SoftGenetics - Software PowerTools for Genetic Analysis

 

 

 

 

 

 

 

Conferences and Papers

We are pleased and proud that leading researchers over the world choose our analytical tools to insure the accuracy of their research:

 

Mutation Surveyor citations
Mutation Explorer citations
GeneMarker citations
GeneMarker HID
citations

GeneMarker HTS citations
NextGENe citations
ChimerMarker citations

GeneticistAssistant citations

 

Citations of SoftGenetics Mutation Surveyor and Mutation Explorer.

 

2020

  1. Aldakeel, Sumayh A., Neda Z. Ghanem, Amani M. Al-Amodi, Ahoud Khalid Osman, Lubna Ibrahim Al Asoom, Nazish Rafique Ahmed, Noor B. Almandil, Mohammed Shakil Akhtar, Sayed Abdul Azeez, and J. Francis Borgio. Identification of Seven Novel Variants in the β-Globin Gene in Transfusion-Dependent and Normal Patients. Archives of Medical Science; Poznan 16, no. 2 (2020): 453–59. (Read the article)
  2. Beara-Lasic, Lada, Andrea Cogal, Kristin Mara, Felicity Enders, Ramila A. Mehta, Zejfa Haskic, Susan L. Furth, et al. Prevalence of Low Molecular Weight Proteinuria and Dent Disease 1 CLCN5 Mutations in Proteinuric Cohorts. Pediatric Nephrology 35, no. 4 (April 1, 2020): 633–40. (Read the article)
  3. Kaur, Harjeevan, Lihong Wang, Natalia Stawniak, Raymond Sloan, Harrie van Erp, Peter Eastmond, and Ian Bancroft. The Impact of Reducing Fatty Acid Desaturation on the Composition and Thermal Stability of Rapeseed Oil. Plant Biotechnology Journal 18, no. 4 (2020): 983–91. (Read the article)
  4. Brisson, G.D., de Almeida Lopes, B., Andrade, F.G., Bueno, F.V. dos S., Sardou-Cezar, I.,
    Gonçalves, B.A. de A., Terra-Granado, E., Paraguassú-Braga, F.H., Pombo-de-Oliveira,
    M.S., 2018. EPHX1 rs1051740 T>C (Tyr113His) is strongly associated with acute
    myeloid leukemia and KMT2A rearrangements in early age.
    Archives of Toxicology. Archiv für Toxikologie; Heidelberg 92, 2001–2012. (Read the article)
  5. Khan, M.T., Malik, S.I., Sajid, A., Masood, N., Nadeem, T., Khan, A.S., Afzal, M.T., 2019.
    Pyrazinamide resistance and mutations in pncA among isolates of Mycobacterium tuberculosis from Khyber Pakhtunkhwa, Pakistan. BMC Infectious Diseases; London 19. (Read the article)
  6. Cao, Y.-Y., Zhang, W.-H., Qu, Y.-J., Bai, J.-L., Jin, Y.-W., Wang, H., Song, F., 2018.
    Diagnosis of Spinal Muscular Atrophy: A Simple Method for Quantifying the Relative Amount of Survival Motor Neuron Gene 1/2 Using Sanger DNA Sequencing. Chin. Med. J. 131, 2921–2929. (Read the articles)
  7. Elango, T., Sun, J., Zhu, C., Zhou, F., Zhang, Y., Sun, L., Yang, S., Zhang, X., 2018.
    Mutational analysis of epidermal and hyperproliferative type I keratins in mild
    and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of
    psoriasis along with disease severity.
    Hum. Genomics 12, 27. (Read the article)
  8. Kénémé, B., Sembène, M., 2019. GTn Repeat Microsatellite Instability in Uterine Fibroids. Front Genet 10, 810. (Read the article)
  9. Shah, N.D., Shah, P.S., Panchal, Y.Y., Katudia, K.H., Khatri, N.B., Ray, H.S.P., Bhatiya,
    U.R., Shah, S.C., Shah, B.S., Rao, M.V., 2018. Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients. Appl Clin Genet 11, 59–67. (Read the article)
  10. Abath Neto, O., Moreno, C. de A.M., Malfatti, E., Donkervoort, S., Böhm, J., Guimarães,
    J.B., Foley, A.R., Mohassel, P., Dastgir, J., Bharucha-Goebel, D.X., Monges, S., Lubieniecki, F., Collins, J., Medne, L., Santi, M., Yum, S., Banwell, B., Salort-Campana, E., Rendu, J., Fauré, J., Yis, U., Eymard, B., Cheraud, C., Schneider, R., Thompson, J., Lornage, X., Mesrob, L., Lechner, D., Boland, A., Deleuze, J.-F., Reed, U.C., Oliveira, A.S.B., Biancalana, V., Romero, N.B., Bönnemann, C.G., Laporte, J., Zanoteli, E., 2017. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients. Neuromuscular Disorders 27, 975–985. (Read the article)
  11. Andersen, K.J., Knudsen, A.R., Jepsen, B.N., Meier, M., Gunnarsson, A.P.A., Jensen, U.B.,
    Nyengaard, J.R., Hamilton-Dutoit, S., Mortensen, F.V., 2017. A new technique for accelerated liver regeneration: An experimental study in rats. Surgery 162, 233–247. (Read the article)
  12. Badowski, C., Sim, A.Y.L., Verma, C., Szeverényi, I., Natesavelalar, C., Terron-Kwiatkowski, A., Harper, J., O’Toole, E.A., Lane, E.B., 2017. Modeling the Structure of Keratin 1 and 10 Terminal Domains and their Misassembly in Keratoderma. Journal of Investigative Dermatology 137, 1914–1923. (Read the article)
  13. Chang, F., Liu, L., Fang, E., Zhang, G., Chen, T., Cao, K., Li, Y., Li, M.M., 2017. Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel. The Journal of Molecular Diagnostics 19, 613–624. (Read the article)
  14. Chen, L., Li, X., Zhao, Y., Liu, W., Wu, Hui-juan, Liu, J., Mu, X., Wu, Hong-bo, 2017. Down-regulated microRNA-375 expression as a predictive biomarker in non-small cell lung cancer brain metastasis and its prognostic significance. Pathology - Research and Practice 213, 882–888. (Read the article)
  15. Cherkaoui Jaouad, I., Lyahyai, J., Guaoua, S., El Alloussi, M., Zrhidri, A., Doubaj, Y., Boulanouar, A., Sefiani, A., 2017. Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome. European Journal of Medical Genetics 60, 239–244. (Read the article)
  16. Chetty, R., Kalimuthu, S.N., Heinonen, H.-R., 2017. Primary inferior vena cava smooth muscle tumor with diffuse bizarre giant nuclei and low mitotic rate: a nomenclatural conundrum. Cardiovascular Pathology 30, 1–5. (Read the article)
  17. Dai, Z., Whitt, Z., Mighion, L.C., Pontoglio, A., Bean, L.J.H., Colombo, R., Hegde, M., 2017. Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder. European Journal of Medical Genetics 60, 312–316. (Read the article)
  18. Fader, A.N., Bergstrom, J., Jernigan, A., Tanner, E.J., Roche, K.L., Stone, R.L., Levinson,
    K.L., Ricci, S., Wethingon, S., Wang, T.-L., Shih, I.-M., Yang, B., Zhang, G., Armstrong, D.K., Gaillard, S., Michener, C., DeBernardo, R., Rose, P.G., 2017. Primary cytoreductive surgery and adjuvant hormonal monotherapy in women with advanced low-grade serous ovarian carcinoma: Reducing overtreatment without compromising survival? Gynecologic Oncology 147, 85–91. (Read the article)
  19. Farag, S., Somaiah, N., Choi, H., Heeres, B., Wang, W.-L., van Boven, H., Nederlof, P.,
    Benjamin, R., van der Graaf, W., Grunhagen, D., Boonstra, P.A., Reyners, A.K.L., Gelderblom, H., Steeghs, N., 2017. Clinical characteristics and treatment outcome in a large multicentre observational cohort of PDGFRA exon 18 mutated gastrointestinal stromal tumour patients. European Journal of Cancer 76, 76–83. (Read the article)
  20. Ferreira, C.R., Chen, D., Abraham, S.M., Adams, D.R., Simon, K.L., Malicdan, M.C., Markello, T.C., Gunay-Aygun, M., Gahl, W.A., 2017. Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. Molecular Genetics and Metabolism 120, 288–294. (Read the article)
  21. Ferreira, P., Shin, I., Sosova, I., Dornevil, K., Jain, S., Dewey, D., Liu, F., Liu, A., 2017.
    Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency. Molecular Genetics and Metabolism 120, 317–324. (Read the article)
  22. Gatto, E.M., Allegri, R.F., Da Prat, G., Chrem Mendez, P., Hanna, D.S., Dorschner, M.O.,
    Surace, E.I., Zabetian, C.P., Mata, I.F., 2017. Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America. Neurobiology of Aging 53, 195.e11-195.e17. (Read the article)
  23. Ge, M.-M., Hu, L., Li, Z., Cheng, G., Yan, K., Kong, Y., Wang, H., Yang, L., Zhou, W.,
    2017. Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing. Clinica Chimica Acta 470, 24–28. (Read the article)
  24. Ghatak, S., Yadav, R.P., Rathore, H.S., Thou, K., Jakha, F., Sumi, K.T., Sanga, Z., Senthil
    Kumar, N., 2017. Mitochondrial control region and GSTP1 polymorphism associated with familial urinary bladder cancer in Karbi-Anglong tribe of Assam, Northeast India. Egyptian Journal of Medical Human Genetics 18, 99–104. (Read the article)
  25. Gomes, C., Alonso, A., Marquina, D., Guardià, M., López-Matayoshi, C., Palomo-Díez, S.,
    Perea-Peréz, B., Gibaja, J.F., Arroyo-Pardo, E., 2017. “Inhibiting inhibitors”: Preliminary results of a new “DNA extraction-amplification” disinhibition technique in critical human samples. Forensic Science International: Genetics Supplement Series 6, e197–e199. (Read the article)
  26. Gomez Limia, C.E., Devalle, S., Reis, M., Sochacki, J., Carneiro, M., Madeiro da Costa, R.,
    D’Andrea, M., Padilha, T., Zalcberg, I.R., Solza, C., Daumas, A., Rehen, S., Monte-Mór, B., Bonamino, M.H., 2017. Generation and characterization of a human induced pluripotent stem (iPS) cell line derived from an acute myeloid leukemia patient evolving from primary myelofibrosis carrying the CALR 52bp deletion and the ASXL1 p.R693X mutation. Stem Cell Research 24, 16–20. (Read the article)
  27. Hao, S., Jin, L., Li, C., Wang, H., Zheng, F., Ma, D., Zhang, T., 2017. Mutational analysis
    of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia.
    International Journal of Pediatric Otorhinolaryngology 93, 78–82. (Read the article)
  28. Kerkhof, J., Schenkel, L.C., Reilly, J., McRobbie, S., Aref-Eshghi, E., Stuart, A., Rupar,
    C.A., Adams, P., Hegele, R.A., Lin, H., Rodenhiser, D., Knoll, J., Ainsworth, P.J., Sadikovic, B., 2017. Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels. The Journal of Molecular Diagnostics 19, 905–920. (Read the article)
  29. Kharbanda, M., Hunter, A., Tennant, S., Moore, D., Curtis, S., Hancox, J.C., Murday, V.,
    2017. Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation. European Journal of Medical Genetics 60, 233–238. (Read the article)
  30. Kröger, N., Panagiota, V., Badbaran, A., Zabelina, T., Triviai, I., Araujo Cruz, M.M., Shahswar, R., Ayuk, F., Gehlhaar, M., Wolschke, C., Bollin, R., Walter, C., Dugas, M., Wiehlmann, L., Lehmann, U., Koenecke, C., Chaturvedi, A., Alchalby, H., Stadler, M., Eder, M., Christopeit, M., Göhring, G., Koenigsmann, M., Schlegelberger, B., Kreipe, H.-H., Ganser, A., Stocking, C., Fehse, B., Thol, F., Heuser, M., 2017. Impact of Molecular Genetics on Outcome in Myelofibrosis Patients after Allogeneic Stem Cell Transplantation. Biology of Blood and Marrow Transplantation 23, 1095–1101. (Read the article)
  31. Mackay, A., Burford, A., Carvalho, D., Izquierdo, E., Fazal-Salom, J., Taylor, K.R., Bjerke,
    L., Clarke, M., Vinci, M., Nandhabalan, M., Temelso, S., Popov, S., Molinari, V., Raman, P., Waanders, A.J., Han, H.J., Gupta, S., Marshall, L., Zacharoulis, S., Vaidya, S., Mandeville, H.C., Bridges, L.R., Martin, A.J., Al-Sarraj, S., Chandler, C., Ng, H.-K., Li, X., Mu, K., Trabelsi, S., Brahim, D.H.-B., Kisljakov, A.N., Konovalov, D.M., Moore, A.S., Carcaboso, A.M., Sunol, M., de Torres, C., Cruz, O., Mora, J., Shats, L.I., Stavale, J.N., Bidinotto, L.T., Reis, R.M., Entz-Werle, N., Farrell, M., Cryan, J., Crimmins, D., Caird, J., Pears, J., Monje, M., Debily, M.-A., Castel, D., Grill, J., Hawkins, C., Nikbakht, H., Jabado, N., Baker, S.J., Pfister, S.M., Jones, D.T.W., Fouladi, M., von Bueren, A.O., Baudis, M., Resnick, A., Jones, C., 2017. Integrated Molecular Meta-Analysis of 1,000 Pediatric High-Grade and Diffuse Intrinsic Pontine Glioma. Cancer Cell 32, 520-537.e5. (Read the article)
  32. Martins, L., Giovani, P.A., Rebouças, P.D., Brasil, D.M., Haiter Neto, F., Coletta, R.D.,
    Machado, R.A., Puppin-Rontani, R.M., Nociti Jr., F.H., Kantovitz, K.R., 2017. Computational analysis for GNAQ mutations: New insights on the molecular etiology of Sturge-Weber syndrome. Journal of Molecular Graphics and Modelling 76, 429–440. (Read the article)
  33. Nowak, J.A., Yurgelun, M.B., Bruce, J.L., Rojas-Rudilla, V., Hall, D.L., Shivdasani, P.,
    Garcia, E.P., Agoston, A.T., Srivastava, A., Ogino, S., Kuo, F.C., Lindeman, N.I., Dong,
    F., 2017. Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing. The Journal of Molecular Diagnostics 19, 84–91. (Read the article)
  34. Palisoul, M.L., Mullen, M.M., Feldman, R., Thaker, P.H., 2017. Identification of molecular targets in vulvar cancers. Gynecologic Oncology 146, 305–313. (Read the article)
  35. Palomo-Díez, S., Esparza-Arroyo, Á., Gomes, C., Rickards, O., Velasco-Vázquez, J., López-
    Parra, A.M., Richer, C.B., Martínez-Labarga, C., Arroyo-Pardo, E., 2017a. Genetic
    characterization and determination of the number of individuals by molecular
    analysis in a prehistoric finding.
    Forensic Science International: Genetics Supplement
    Series 6, e487–e489. (Read the article)
  36. Palomo-Díez, S., Esparza-Arroyo, Á., Velasco-Vázquez, J., Gomes, C., López-Parra, A.M.,
    Arroyo-Pardo, E., 2017b. An unexpected case in the prehistory of the Iberian Peninsula: Biogeographical origin analysis through mitochondrial DNA. Forensic Science International: Genetics Supplement Series 6, e205–e207. (Read the article)
  37. Palomo-Díez, S., Martínez-Labarga, C., Gomes, C., Esparza-Arroyo, Á., Rickards, O.,
    Arroyo-Pardo, E., 2017c. Comparison of two different DNA extraction methodologies for critical bone or teeth samples. Forensic Science International: Genetics Supplement Series 6, e359–e361. (Read the article)
  38. Potulska-Chromik, A., Hoffman-Zacharska, D., Łukawska, M., Kostera-Pruszczyk, A., 2017.
    Dopa-responsive dystonia or early-onset Parkinson disease – Genotype–phenotype correlation. Neurologia i Neurochirurgia Polska 51, 1–6. (Read the article)
  39. Simon, D.K., Wu, C., Tilley, B.C., Lohmann, K., Klein, C., Payami, H., Wills, A.-M., Aminoff, M.J., Bainbridge, J., Dewey, R., Hauser, R.A., Schaake, S., Schneider, J.S., Sharma, S., Singer, C., Tanner, C.M., Truong, D., Wei, P., Wong, P.S., Yang, T., 2017. Caffeine, creatine, GRIN2A and Parkinson’s disease progression. Journal of the Neurological Sciences 375, 355–359. (Read the article)
  40. Tatton-Brown, K., Loveday, C., Yost, S., Clarke, M., Ramsay, E., Zachariou, A., Elliott, A.,
    Wylie, H., Ardissone, A., Rittinger, O., Stewart, F., Temple, I.K., Cole, T., Mahamdallie, S., Seal, S., Ruark, E., Rahman, N., 2017. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. The American Journal of Human Genetics 100, 725–736. (Read the article)
  41. Trible, W., Olivos-Cisneros, L., McKenzie, S.K., Saragosti, J., Chang, N.-C., Matthews, B.J.,
    Oxley, P.R., Kronauer, D.J.C., 2017. orco Mutagenesis Causes Loss of Antennal Lobe Glomeruli and Impaired Social Behavior in Ants. Cell 170, 727-735.e10. (Read the article)
  42. Vavrova, E., Kantorova, B., Vonkova, B., Kabathova, J., Skuhrova-Francova, H., Diviskova,
    E., Letocha, O., Kotaskova, J., Brychtova, Y., Doubek, M., Mayer, J., Pospisilova, S., 2017. Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia. Leukemia Research 60, 145–150. (Read the article)
  43. Wimalasena, S.H.M.P., De Silva, B.C.J., Hossain, S., Pathirana, H.N.K.S., Heo, G.-J., 2017.
    Prevalence and characterisation of quinolone resistance genes in Aeromonas spp. isolated from pet turtles in South Korea. Journal of Global Antimicrobial Resistance 11, 34–38. (Read the article)
  44. Xing, D., Suryo Rahmanto, Y., Zeppernick, F., Hannibal, C.G., Kjaer, S.K., Vang, R., Shih,
    I.-M., Wang, T.-L., 2017. Mutation of NRAS is a rare genetic event in ovarian low-grade serous carcinoma. Human Pathology 68, 87–91. (Read the article)
  45. Zrhidri, A., Jaouad, I.C., Lyahyai, J., Raymond, L., Egéa, G., Taoudi, M., El Mouatassim, S.,
    Sefiani, A., 2017. Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature. Gene 628, 190–193. (Read the article)
  46. Abstracts, 2018. . The Journal of Molecular Diagnostics 20, 895–1039. (Read the article)
  47. Al-Badr, A.A., Ajarim, T.D.S., 2018. Chapter One - Ganciclovir, in: Brittain, H.G. (Ed.), Profiles of Drug Substances, Excipients and Related Methodology. Academic Press, pp. 1–208. (Read the article)
  48. Ali, E.Z., Ngu, L.-H., 2018. Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population. Molecular Genetics and Metabolism Reports 17, 22–30. (Read the article)
  49. Aran, V., Masson Domingues, P., Carvalho de Macedo, F., Moreira de Sousa, C.A., Caldas
    Montella, T., de Souza Accioly, M.T., Ferreira, C.G., 2018. A cross-sectional study examining the expression of splice variants K-RAS4A and K-RAS4B in advanced non-small-cell lung cancer patients. Lung Cancer 116, 7–14. (Read the article)
  50. Bellido, F., Sowada, N., Mur, P., Lázaro, C., Pons, T., Valdés-Mas, R., Pineda, M., Aiza, G.,
    Iglesias, S., Soto, J.L., Urioste, M., Caldés, T., Balbín, M., Blay, P., Rueda, D., Durán, M., Valencia, A., Moreno, V., Brunet, J., Blanco, I., Navarro, M., Calin, G.A., Borck, G., Puente, X.S., Capellá, G., Valle, L., 2018. Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer. Gastroenterology 154, 181-194.e20. (Read the article)
  51. Caglar, H.O., Tumer, S., Olgun, H.N., Altungoz, O., 2018. Analysis of sporadic neuroblastic tumors reveals a novel PHOX2B mutation in neuroblastoma. Gene Reports 11, 239–243. (Read the article)
  52. Chen, X., Gao, Y., Yang, L., Wu, B., Dong, X., Liu, B., Lu, Y., Zhou, W., Wang, H., 2018. Speech and language delay in a patient with WDR4 mutations. European Journal of Medical Genetics 61, 468–472. (Read the article)
  53. Costa, H.Z., Pereira, N.F., kaminski, L., Pasquini, R., Funke, V.A.M., Mion, A.L.V., 2018.
    Mutations in the breakpoint cluster region-Abelson murine leukemia 1 gene in Brazilian patients with chronic myeloid leukemia. Hematology, Transfusion and Cell Therapy 40, 363–367. (Read the article)
  54. Fransquet, P.D., Lacaze, P., Saffery, R., McNeil, J., Woods, R., Ryan, J., 2018. Blood DNA
    methylation as a potential biomarker of dementia: A systematic review.
    Alzheimer’s & Dementia 14, 81–103. (Read the article)
  55. Ghatak, S., Chakraborty, P., Sarathbabu, S., Pautu, J.L., Zohmingthanga, J., Lalchhandama, C., Kumar, N.S., 2018. Influence of TP53 gene somatic mutations in Helicobacter pylori infected gastric tumor. Meta Gene 17, 108–114. (Read the article)
  56. Gomez Limia, C.E., Devalle, S., Reis, M., Sochacki, J., Madeiro da Costa, R., D’Andrea, M.,
    Padilha, T., Zalcberg, I.R., Solza, C., Daumas, A., Rehen, S., Bonamino, M.H., Monte-Mór, B., 2018. Characterization of a human induced Pluripotent Stem (iPS) cell line (INCABRi002-A) derived from a primary myelofibrosis patient harboring the 5-bp insertion in CALR and the p.W146X mutation in TP53. Stem Cell Research 33, 130–134. (Read the article)
  57. Ibrahim Khalil, A., Bendahhou, K., Rhouda, T., Lyahyai, J., Qachach, F., Zrhidri, A., Natiq,
    A., Benider, A., Mestaghanmi, H., 2018. Variation of exon 11 of the BRCA1 gene in patients with familial breast cancer at Mohammed VI center for treatment of cancers. Gene Reports 12, 243–247. (Read the article)
  58. Jafaryazdi, R., Shams, S., Isaian, A., Ebadi, E., Safaralizadeh, R., Teimourian, S., 2018. A
    novel compound heterozygote mutation in the ARSB gene in a patient with Maroteaux-Lamy syndrome and its Insilico evaluation.
    Meta Gene 18, 127–131. (Read the article)
  59. Jiao, J., Tian, W., Qiu, P., Norton, E.L., Wang, M.M., Chen, Y.E., Yang, B., 2018. Induced
    pluripotent stem cells with NOTCH1 gene mutation show impaired differentiation into smooth muscle and endothelial cells: Implications for bicuspid aortic valve-related aortopathy.
    The Journal of Thoracic and Cardiovascular Surgery 156, 515-522.e1. (Read the article)
  60. Kang, H., Zhang, M., Ouyang, M., Guo, R., Yu, Q., Peng, Q., Zhang, N., Zhang, Y., Duan,
    Y., Tang, X., Mishra, V., Fang, F., Li, W., Huang, H., Peng, Y., 2018. Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion tensor MR imaging. European Journal of Radiology 102, 22–29. (Read the article)
  61. Khan, M.T., Rehaman, A.U., Junaid, M., Malik, S.I., Wei, D.-Q., 2018. Insight into novel
    clinical mutants of RpsA-S324F, E325K, and G341R of Mycobacterium tuberculosis associated with pyrazinamide resistance.
    Computational and Structural Biotechnology Journal 16, 379–387. (Read the article)
  62. Krishnaswamy, S., Bukhari, I., Mohammed, A.K., Amer, O.E., Tripathi, G., Alokail, M.S.,
    Al-Daghri, N.M., 2018. Identification of the splice variants of Recepteur d’Origine nantais (RON) in lung cancer cell lines. Gene 679, 335–340. (Read the article)
  63. Lamont, R.E., Xi, Y., Popko, C., Lazier, J., Bernier, F.P., Lauzon, J.L., Innes, A.M., Parboosingh, J.S., Thomas, M.A., 2018. Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies. Journal of Obstetrics and Gynaecology Canada 40, 1417–1423. (Read the article)
  64. Liu, X., Li, W., Han, T., Wei, K., Qiao, S., Su, L., Chi, Z., 2018. The finding of a new
    heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing.
    Clinical Neurology and Neurosurgery 169, 86–91. (Read the article)
  65. Mackay, A., Burford, A., Molinari, V., Jones, D.T.W., Izquierdo, E., Brouwer-Visser, J.,
    Giangaspero, F., Haberler, C., Pietsch, T., Jacques, T.S., Figarella-Branger, D., Rodriguez, D., Morgan, P.S., Raman, P., Waanders, A.J., Resnick, A.C., Massimino, M., Garrè, M.L., Smith, H., Capper, D., Pfister, S.M., Würdinger, T., Tam, R., Garcia, J., Thakur, M.D., Vassal, G., Grill, J., Jaspan, T., Varlet, P., Jones, C., 2018. Molecular, Pathological, Radiological, and Immune Profiling of Non-brainstem Pediatric High-Grade Glioma from the HERBY Phase II Randomized Trial. Cancer Cell 33, 829-842.e5. (Read the article)
  66. Manley, P.N., Abu-Abed, S., Kirsch, R., Hawrysh, A., Perrier, N., Feilotter, H., Pollett, A.,
    Riddell, R.H., Hookey, L., Walia, J.S., 2018. Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype. Human Pathology 76, 52–57. (Read the article)
  67. Mendes, M.I., Gutierrez Salazar, M., Guerrero, K., Thiffault, I., Salomons, G.S., Gauquelin,
    L., Tran, L.T., Forget, D., Gauthier, M.-S., Waisfisz, Q., Smith, D.E.C., Simons, C., van der Knaap, M.S., Marquardt, I., Lemes, A., Mierzewska, H., Weschke, B., Koehler, W., Coulombe, B., Wolf, N.I., Bernard, G., 2018. Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy. The American Journal of Human Genetics 102, 676–684. (Read the article)
  68. Moey, L.H., Abdul Azize, N.A., Yakob, Y., Leong, H.Y., Keng, W.T., Chen, B.C., Ngu,
    L.H., 2018. Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients. Pediatrics & Neonatology 59, 397–403. (Read the article)
  69. Olm, C.A., McMillan, C.T., Irwin, D.J., Van Deerlin, V.M., Cook, P.A., Gee, J.C., Grossman, M., 2018. Longitudinal structural gray matter and white matter MRI changes in presymptomatic progranulin mutation carriers. NeuroImage: Clinical 19, 497–506. (Read the article)
  70. Pathirana, H., Shin, G.-W., Wimalasena, S., De Silva, B., Hossain, S., Heo, G.-J., 2018.
    PREVALENCE AND CHARACTERIZATION OF QUINOLONE RESISTANCE GENES IN PROTEUS SPECIES ISOLATED FROM PET TURTLES. Journal of Exotic Pet Medicine 27, 67–73. (Read the article)
  71. Ravikumar, A., Arzumanyan, G.A., Obadi, M.K.A., Javanpour, A.A., Liu, C.C., 2018. Scalable, Continuous Evolution of Genes at Mutation Rates above Genomic Error Thresholds. Cell 175, 1946-1957.e13. (Read the article)
  72. Rohani, M., Shahidi, G., Vali, F., Lang, A.E., Slow, E., Gahl, W.A., Behnam, B., 2018. Oculogyric crises in PLA2G6 associated neurodegeneration. Parkinsonism & Related Disorders 52, 111–112. (Read the article)
  73. Soda, N., Verma, L., Giri, J., 2018. CRISPR-Cas9 based plant genome editing: Significance, opportunities and recent advances. Plant Physiology and Biochemistry, Genome Editing Technologies for Plant Physiology 131, 2–11. (Read the article)
  74. Spaans, V.M., Nyoman Bayu Mahendra, I., Purwoto, G., Trietsch, M.D., Osse, M., ter Haar,
    N., Peters, A.A.W., Fleuren, G.J., Jordanova, E.S., 2018. The landscape of somatic mutations in Indonesian cervical cancer is predominated by the PI3K pathway. Gynecologic Oncology 148, 189–196. (Read the article)
  75. Wang, L., Xiao, Y., Tian, T., Jin, L., Lei, Y., Finnell, R.H., Ren, A., 2018. Digenic variants
    of planar cell polarity genes in human neural tube defect patients.
    Molecular Genetics and Metabolism 124, 94–100. (Read the article)
  76. Xu, Y., Sun, S., Li, N., Yu, T., Wang, X., Wang, J., Bao, N., 2018. Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis. Gene 641, 144–150. (Read the article)
  77. Yuzyuk, T., Balakrishnan, B., Schwarz, E.L., De Biase, I., Hobert, J., Longo, N., Mao, R., Lai, K., Pasquali, M., 2018. Effect of genotype on galactose-1-phosphate in classic galactosemia patients. Molecular Genetics and Metabolism 125, 258–265. (Read the article)
  78. Zuo, L., Zhao, H., Yang, R., Wang, L., Ma, H., Xu, X., Zhou, P., Kong, L., 2018. Lamin
    A/C might be involved in the EMT signalling pathway.
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  79. Abdulfatah, E., Wakeling, E., Sakr, S., Al-Obaidy, K., Bandyopadhyay, S., Morris, R., Feldman, G., Ali-Fehmi, R., 2019. Molecular classification of endometrial carcinoma applied to endometrial biopsy specimens: Towards early personalized patient management. Gynecologic Oncology 154, 467–474. (Read the article)
  80. Adadi, N., Zrhidri, A., Fellat, I., Bouzelmat, H., Benzaroual, D., Bouhouch, R., Radi, F.Z.,
    Lyahyai, J., Ratbi, I., Sefiani, A., 2019. First application of next-generation sequencing in patients with hypertrophic cardiomyopathy in Morocco and report of a novel frameshift mutation of MYBPC3 gene: Case report. Meta Gene 22, 100590. (Read the article)
  81. Alexiev, B.A., Obeidin, F., Jennings, L.J., 2019. Ewing sarcoma with myxoid stroma: Case report of an unusual histological variant. Pathology - Research and Practice 215, 152665. (Read the article)
  82. Al-Hamed, M.H., Imtiaz, F., Al-Hassnan, Z., Al-Owain, M., Al-Zaidan, H., Alamoudi, M.S.,
    Faqeih, E., Alfadhel, M., Al-Asmari, A., Saleh, M.M., Al Mutairi, F., Moghrabi, N., AlSayed, M., 2019. Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia. Molecular Genetics and Metabolism Reports 18, 22–29. (Read the article)
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    Sanches, A., Baptista, A., Lopes, J.M., Soares, P., 2019. TERT promoter mutations are associated with poor prognosis in cutaneous squamous cell carcinoma. Journal of the American Academy of Dermatology 80, 660-669.e6. (Read the article)
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    Lee, J.H., Jung, K.W., Kim, M.J., Kim, M.-J., Kim, Y.J., Yun, S.-C., Hong, S.-M., Myung, S.-J., Klein, C., 2019. Association of SNCA variants with α-synuclein of gastric and colonic mucosa in Parkinson’s disease. Parkinsonism & Related Disorders 61, 151–155. (Read the article)
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    Herrera, R., López-Parra, A.M., Palomo-Díez, S., Labajo-González, E., Perea-Pérez, B., López-Matayoshi, C., Baeza-Richer, C., Arroyo-Pardo, E., 2019. Evaluation of two FTA card elutions with sterile vs distilled water. Forensic Science International: Genetics Supplement Series. (Read the article)
  93. Gubert, F., Vasques, J.F., Cozendey, T.D., Domizi, P., Toledo, M.F., Kasai-Brunswick, T.H.,
    Loureiro, M.P.S., Lima, J.M.B., Gress, C.H., Cabello, G.M.K., Cabello, P.H., Borgonovo, T., Vaz, I.M., Silva, R., Mendez-Otero, R., 2019. Generation of four patient-specific pluripotent induced stem cell lines from two Brazilian patients with amyotrophic lateral sclerosis and two healthy subjects. Stem Cell Research 37, 101448. (Read the article)
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  95. Hossain, M.A., Wu, C., Yanagisawa, H., Miyajima, T., Akiyama, K., Eto, Y., 2019. Future
    clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.
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  96. Jarzabek, K., Koda, M., Chrusciel, M., Kanczuga-Koda, L., Sobczynska-Tomaszewska, A.,
    Rahman, N.A., Wolczynski, S., 2019. Features of the fetal gonad in androgen synthesis in the postpubertal testis are preserved in complete androgen insensitivity syndrome due to a novel genetic splice site donor variant in androgen receptor gene intron 1. The Journal of Steroid Biochemistry and Molecular Biology 193, 105420. (Read the article)
  97. Li, G., Xu, Y., Hu, X., Li, N., Yao, R., Yu, T., Wang, X., Guo, W., Wang, J., 2019. Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG). European Journal of Medical Genetics 62, 44–46. (Read the article)
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    Fan, X., Niu, X., Liu, Y., Liu, R., An, P., Qu, T., Chang, W., Wang, Q., Zhou, L., Li, Jiao, Wang, Z., Jiao, J., Wang, Y., Wang, G., Liang, N., Liang, J., Liang, Y., Hou, H., Shi, Y., Yang, Xiaohong, Li, Juan, Dang, E., Yin, G., Yang, Xukui, Zhang, G., Gao, Q., Fang, X., Li, Xinhua, Zhang, K., 2019. Multi-omics study in monozygotic twins confirm the contribution of de novo mutation to psoriasis. Journal of Autoimmunity 102349. (Read the article)
  99. Mahamdallie, S., Yost, S., Poyastro-Pearson, E., Holt, E., Zachariou, A., Seal, S., Elliott, A.,
    Clarke, M., Warren-Perry, M., Hanks, S., Anderson, J., Bomken, S., Cole, T., Farah, R.,
    Furtwaengler, R., Glaser, A., Grundy, R., Hayden, J., Lowis, S., Millot, F., Nicholson, J., Ronghe, M., Skeen, J., Williams, D., Yeomanson, D., Ruark, E., Rahman, N., 2019. Identification of new Wilms tumour predisposition genes: an exome sequencing study. The Lancet Child & Adolescent Health 3, 322–331. (Read the article)
  100. Mármol, P., Gómez, B., Gomes, C., Romero, C., Baeza-Richer, C., Hernández-Cordero, A.,
    Martín-Arrebola, M., Rosell-Herrera, R., López-Parra, A.M., Palomo-Díez, S., Labajo-González, E., Perea-Pérez, B., López-Matayoshi, C., Arroyo-Pardo, E., 2019. An innovative DNA extraction method: Water versus commercial buffers. Forensic Science International: Genetics Supplement Series. (Read the article)
  101. Oracz, G., Kujko, A.A., Fjeld, K., Wertheim-Tysarowska, K., Adamus-Białek, W., Steine, S.J., Koziel, D., Gluszek, S., Molven, A., Rygiel, A.M., 2019. The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis. Pancreatology 19, 531–534. (Read the article)
  102. Padula, M.C., Leccese, P., Lascaro, N., Carbone, T., Gilio, M., Padula, A.A., Martelli, G.,
    D’Angelo, S., 2019. Genotyping of Italian patients with Behçet syndrome identified two novel ERAP1 polymorphisms using sequencing-based approach. Human Immunology, Biology of Endoplasmic Reticulum Aminopeptidases 80, 335–338. (Read the article)
  103. Palomo-Díez, S., Baeza-Richer, C., Esparza-Arroyo, A., Velasco-Vázquez, J., Gomes, C.,
    Sánchez-Polo, A., López-Parra, A.M., Blanco-González, A., Arroyo-Pardo, E., 2019a. Kinship analysis on skeletal ancient remains: The case of “el cerro de la horra” (Burgos, Spain). Forensic Science International: Genetics Supplement Series. (Read the article)
  104. Palomo-Díez, S., Cebrián-Fernández, R., Hortelano-Uceda, I., Labajo-González, E., Perea-
    Pérez, B., Gomes, C., Arroyo-Pardo, E., 2019b. Diachronic mtDNA study of the long time occupied archaeological site of Segobriga (Spain) and comparison with nowadays population. Forensic Science International: Genetics Supplement Series. (Read the article)
  105. Placek, K., Baer, G.M., Elman, L., McCluskey, L., Hennessy, L., Ferraro, P.M., Lee, E.B.,
    Lee, V.M.Y., Trojanowski, J.Q., Van Deerlin, V.M., Grossman, M., Irwin, D.J., McMillan, C.T., 2019. UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis. Neurobiology of Aging 73, 190–199. (Read the article)
  106. Riva, V., Mozzi, A., Forni, D., Trezzi, V., Giorda, R., Riva, S., Villa, M., Sironi, M., Cagliani, R., Mascheretti, S., 2019. The influence of DCDC2 risk genetic variants on reading: Testing main and haplotypic effects. Neuropsychologia, Developmental dyslexia: From genes to remediation 130, 52–58. (Read the article)
  107. Sana, G., Madigan, J.P., Gartner, J.J., Fourrez, M., Lin, J., Qutob, N., Narayan, J., Shukla, S., Ambudkar, S.V., Xia, D., Rosenberg, S.A., Gottesman, M.M., Samuels, Y., Gillet, J.-P.,
    2019. Exome Sequencing of ABCB5 Identifies Recurrent Melanoma Mutations that Result in Increased Proliferative and Invasive Capacities. Journal of Investigative Dermatology 139, 1985-1992.e10. (Read the article)
  108. Visioli, A., Giani, F., Trivieri, N., Pracella, R., Miccinilli, E., Cariglia, M.G., Palumbo, O., Arleo, A., Dezi, F., Copetti, M., Cajola, L., Restelli, S., Papa, V., Sciuto, A., Latiano, T.P., Carella, M., Amadori, D., Gallerani, G., Ricci, R., Alfieri, S., Pesole, G., Vescovi, A.L., Binda, E., 2019. Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies. EBioMedicine 44, 346–360. (Read the article)
  109. Weiss, K., Ekhilevitch, N., Cohen, L., Bratman-Morag, S., Bello, R., Martinez, A.F., Hadid,
    Y., Shlush, L.I., Kurolap, A., Paperna, T., Mory, A., Baris, H.N., Muenke, M., 2019. Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population. European Journal of Medical Genetics 103643. (Read the article)
  110. Xuan, L., Wang, Y., Chen, J., Jiang, E., Gao, L., Wu, B., Deng, L., Liang, X., Huang, F.,
    Fan, Z., Tang, X., Sun, J., Zhang, X., Han, M., Wu, D., Huang, X., Liu, Q., 2019. Sorafenib Therapy Is Associated with Improved Outcomes for FMS-like Tyrosine Kinase 3 Internal Tandem Duplication Acute Myeloid Leukemia Relapsing after Allogeneic Hematopoietic Stem Cell Transplantation. Biology of Blood and Marrow Transplantation 25, 1674–1681. (Read the article)
  111. Ye, Z., Huang, Y., Wang, Y., Lu, J., Wu, J., Yu, Z., 2019. Phenotype and Genotype of a
    Cohort of Chinese Children with Early-Onset Protein-Losing Enteropathy.
    The Journal of Pediatrics 208, 38-42.e3. (Read the article)
  112. Youssef, G., Gillett, C., Rampling, D., Chagtai, T., Virasami, A., Barton, J., Edwards, D.,
    Sebire, N., Anderson, J., Montano, X., 2019. The presence of Y674/Y675 phosphorylated NTRK1 via TP53 repression of PTPN6 expression as a potential prognostic marker in neuroblastoma. Human Pathology 86, 182–192. (Read the article)
  113. Itzcovich, T., Chrem-Méndez, P., Vázquez, S., Barbieri-Kennedy, M., Niikado, M., Martinetto, H., Allegri, R., Sevlever, G., Surace, E.I., 2020. A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer’s disease. Neurobiology of Aging 85, 155.e9-155.e12. (Read the article)
  114. Padula, M.C., Leccese, P., Lascaro, N., Carbone, T., Limongi, A.R., Radice, R.P., Padula,
    A.A., D’Angelo, S., Martelli, G., 2020. From structure to function for the characterization of ERAP1 active site in Behçet syndrome. A novel polymorphism associated with known gene variations. Molecular Immunology 117, 155–159. (Read the article)
  115. Barrett, M.T., Deiotte, R., Lenkiewicz, E., Malasi, S., Holley, T., Evers, L., Posner, R.G.,
    Jones, T., Han, H., Sausen, M., Velculescu, V.E., Drebin, J., O’dwyer, P., Jameson, G.,
    Ramanathan, R.K., Von Hoff, D.D., 2017. Clinical study of genomic drivers in pancreatic ductal adenocarcinoma. The British Journal of Cancer; London 117, 572–582. (Read the article)
  116. Chen, H.H., Händel, N., Ngeow, J., Muller, J., Hühn, M., Yang, H.-T., Heindl, M., Berbers,
    R.-M., Hegazy, A.N., Kionke, J., Yehia, L., Sack, U., Bläser, F., Rensing-Ehl, A., Reifenberger, J., Keith, J., Travis, S., Merkenschlager, A., Kiess, W., Wittekind, C., Walker, L., Ehl, S., Aretz, S., Dustin, M.L., Eng, C., Powrie, F., Uhlig, H.H., 2017. Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. Journal of Allergy and Clinical Immunology; St. Louis 139, 607–620. (Read the article)
  117. Dámaso, E., Castillejo, A., Arias, M. del M., Canet-Hermida, J., Navarro, M., Valle, J. del,
    Campos, O., Fernández, A., Marín, F., Turchetti, D., de Dios García-Díaz, J., Lázaro, C., Genuardi, M., Rueda, D., Alonso, Á., Soto, J.L., Hitchins, M., Pineda, M., Capellá, G., 2018. Primary constitutional MLH1 epimutations: a focal epigenetic event. The British Journal of Cancer; London 119, 978–987. (Read the article)
  118. Golan, T., Sella, T., O’reilly, E.M., Katz, M.H.G., Epelbaum, R., Kelsen, D.P., Borgida, A.,
    Maynard, H., Kindler, H., Friedmen, E., Javle, M., Gallinger, S., 2017. Overall survival and clinical characteristics of BRCA mutation carriers with stage I/II pancreatic cancer. The British Journal of Cancer; London 116, 697–702. (Read the article)
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    Novel mutant alleles of the starch synthesis gene TaSSIVb-D result in the reduction of starch granule number per chloroplast in wheat. BMC Genomics; London 18. (Read the article)
  120. Hänninen, U.A., Wirta, E.-V., Katainen, R., Tanskanen, T., Hamberg, J., Taipale, M., Böhm,
    J., Renkonen-Sinisalo, L., Lepistö, A., Forsström, L.M., Pitkänen, E., Palin, K., Seppälä, T.T., Mäkinen, N., Mecklin, J.-P., Aaltonen, L.A., 2019. Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers. The British Journal of Cancer; London 120, 922–930. (Read the article)
  121. Jamaluddin, M.F.B., Nahar, P., Tanwar, P.S., 2018a. Proteomic Characterization of the
    Extracellular Matrix of Human Uterine Fibroids.
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    Byrne, D.A., Hondermarck, H., Baker, M.A., Dun, M.D., Scott, R.J., Nahar, P., Tanwar, P.S., 2018b. Proteomic Profiling of Human Uterine Fibroids Reveals Upregulation of the Extracellular Matrix Protein Periostin. Endocrinology; Washington 159, 1106–1118. (Read the article)
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    heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing.
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2019

  1. Ahmadifard, Mohamadreza, Abdolmohamad Kajbafzadeh, Samareh Panjeh-Shahi, Fatemeh Vand-Rajabpour, Reza Ahmadi-Beni, Hamid Arshadi, Aria Setoodeh, Parastoo Rostami, Javad Tavakkoly-Bazzaz, and Mina Tabrizi. Molecular Investigation of Mutations in Androgen Receptor and 5-Alpha-Reductase-2 Genes in 46,XY Disorders of Sex Development with Normal Testicular Development. Andrologia 51, no. 5 (2019): e13250. (Read the article)
  2. Alamo, Isabella V. Ciuffetelli, Callie S. Kwartler, Ellen R. Regalado, Rana O. Afifi, Sandhya
    Parkash, Andrea Rideout, Dong-chuan Guo, and Dianna M. Milewicz. Grange Syndrome Due to Homozygous YY1AP1 Missense Rare Variants. American Journal of Medical Genetics Part A 179, no. 12 (2019): 2500–2505. (Read the article)
  3. Al-Hamed, Mohamed H., Nada Alsahan, Sarah J. Rice, Noel Edwards, Eman Nooreddeen, Maha Alotaibi, Wesam Kurdi, et al. Bialleleic PKD1 Mutations Underlie Early-Onset Autosomal Dominant Polycystic Kidney Disease in Saudi Arabian Families. Pediatric Nephrology 34, no. 9 (September 1, 2019): 1615–23. (Read the article)
  4. Belhadj, Sami, Isabel Quintana, Pilar Mur, Pau M. Munoz-Torres, M. Henar Alonso, Matilde
    Navarro, Mariona Terradas, et al. NTHL1 Biallelic Mutations Seldom Cause Colorectal Cancer, Serrated Polyposis or a Multi-Tumor Phenotype, in Absence of Colorectal Adenomas. Scientific Reports 9, no. 1 (June 1, 2019): 1–5. (Read the article)
  5. Bogaard, Ellen H. J. van den, Michel van Geel, Ivonne M. J. J. van Vlijmen-Willems, Patrick A. M. Jansen, Malou Peppelman, Piet E. J. van Erp, Selma Atalay, et al. Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin. Genetics in Medicine 21, no. 7 (July 2019): 1559–67. (Read the article)
  6. Braggin, Jacquelyn E., Stephanie A. Bucks, Meredith M. Course, Carole L. Smith, Bryce Sopher, Leah Osnis, Kiel D. Shuey, et al. Alternative Splicing in a Presenilin 2 Variant Associated with Alzheimer Disease. Annals of Clinical and Translational Neurology 6, no. 4 (2019): 762–77. (Read the article)
  7. Butel-Simoes, G. I., A. D. Spigelman, R. J. Scott, and R. E. Vilain. Low-Level Parental Mosaicism in an Apparent de Novo Case of Peutz–Jeghers Syndrome. Familial Cancer; Dordrecht 18, no. 1 (2019): 109. (Read the article)
  8. Cao, Ye, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, et al. A Clinical Survey of Mosaic Single Nucleotide Variants in Disease-Causing Genes Detected by Exome Sequencing. Genome Medicine 11, no. 1 (July 1, 2019): 1–11. (Read the article)
  9. Cardus, Beatrix, Richard Colling, Angela Hamblin, and Elizabeth Soilleux. Comparison of
    Methodologies for the Detection of BRAF Mutations in Bone Marrow Trephine Specimens.
    Journal of Clinical Pathology 72, no. 6 (June 1, 2019): 406–11. (Read the article)
  10. Cerretini, Roxana, Graciela Mercado, Josh Morganstein, Jorge Schiaffi, Mónica Reynoso, Diana Montoya, Rita Valdéz, Steven A. Narod, and Mohammad R. Akbari. Germline Pathogenic Variants in BRCA1, BRCA2, PALB2 and RAD51C in Breast Cancer Women from Argentina. Breast Cancer Research and Treatment 178, no. 3 (December 1, 2019): 629–36. (Read the article)
  11. Chao, Ling, Ruifang Sui, Fengxia Yao, Zhihong Wu, Xue Zhang, and Shuyang Zhang. Whole Exome Sequencing Identified a Novel Truncation Mutation in the NHS Gene Associated with Nance-Horan Syndrome. BMC Medical Genetics; London 20 (2019). (Read the article)
  12. Chen, Junjue, Wei Yan, Linlu Tian, and Xiaoli Kang. A Novel Frameshift Mutation in FRMD7 Causes X-Linked Infantile Nystagmus in a Chinese Family. BMC Medical Genetics; London 20 (2019). (Read the article)
  13. Clarkson, Benjamin D. S., Reghann G. LaFrance-Corey, Robert J. Kahoud, Raquel Farias-Moeller, Eric T. Payne, and Charles L. Howe. Functional Deficiency in Endogenous Interleukin-1 Receptor Antagonist in Patients with Febrile Infection-Related Epilepsy Syndrome. Annals of Neurology 85, no. 4 (2019): 526–37. (Read the article)
  14. Deng, Lisha, Yuanzhen Liu, Wenjun Xia, Jiongjiong Hu, and Zhaoxin Ma. Identification of ANLN as a New Likely Pathogenic Gene of Branchio-Otic Syndrome in a Three-Generation Chinese Family. Molecular Genetics & Genomic Medicine 7, no. 2 (2019): e00525. (Read the article)
  15. Field, Michael, Tracy Dudding-Byth, Marta Arpone, Emma K. Baker, Solange M. Aliaga, Carolyn Rogers, Chriselle Hickerton, et al. Significantly Elevated FMR1 MRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing. International Journal of Molecular Sciences 20, no. 16 (August 1, 2019): 3907. (Read the article)
  16. Imboden, Sara, Denis Nastic, Mehran Ghaderi, Filippa Rydberg, Tilman T. Rau, Michael D. Mueller, Elisabeth Epstein, and Joseph W. Carlson. Phenotype of POLE-Mutated Endometrial Cancer. PLOS ONE 14, no. 3 (March 27, 2019): e0214318. (Read the article)
  17. Jafaryazdi, Rokhsareh, Sedigheh Shams, Anna Isaian, Aria Setoodeh, and Shahram Teimourian. Identification of Eleven Different Mutations Including Six Novel, in the Arylsulfatase B Gene in Iranian Patients with Mucopolysaccharidosis Type VI. Molecular Biology Reports 46, no. 3 (June 1, 2019): 3417–26. (Read the article)
  18. Jamaluddin, M. Fairuz B., Prathima B. Nagendra, Pravin Nahar, Christopher Oldmeadow, and Pradeep S. Tanwar. Proteomic Analysis Identifies Tenascin-C Expression Is Upregulated in Uterine Fibroids. Reproductive Sciences 26, no. 4 (April 1, 2019): 476–86. (Read the article)
  19. Jay, Kristy, Amit Mitra, Taylor Harding, David Matthes, and Brian Van Ness. Identification of a de Novo FOXP1 Mutation and Incidental Discovery of Inherited Genetic Variants Contributing to a Case of Autism Spectrum Disorder and Epilepsy. Molecular Genetics & Genomic Medicine 7, no. 7 (July 1, 2019): n/a-n/a. (Read the article)
  20. Kadakia, Sejal, Lauge Farnaes, David Dimmock, Shimul Chowdhury, Yan Ding, Eric J. Anderson, Stephen Kingsmore, and Ron S. Newfield. Diagnosis and Treatment of a Boy with IPEX Syndrome Presenting with Diabetes in Early Infancy. Clinical Case Reports 7, no. 11 (November 1, 2019): 2123–27. (Read the article)
  21. Karolak, Justyna A., Albino Bacolla, Qian Liu, Patrick E. Lantz, John Petty, Pamela Trapane, Karin Panzer, et al. A Recurrent 8 Bp Frameshifting Indel in FOXF1 Defines a Novel Mutation Hotspot Associated with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. American Journal of Medical Genetics Part A 179, no. 11 (2019): 2272–76. (Read the article)
  22. Keller, Christian W., Tobias Ruck, Donal McHugh, Steffen Pfeuffer, Catharina C. Gross, Catharina Korsukewitz, Nico Melzer, et al. Impact of FcγR Variants on the Response to Alemtuzumab in Multiple Sclerosis. Annals of Clinical and Translational Neurology 6, no. 12 (2019): 2586–94. (Read the article)
  23. Khan, Muhammad Tahir, Abbas Khan, Ashfaq Ur Rehman, Yanjie Wang, Khalid Akhtar, Shaukat Iqbal Malik, Wei Dong-Qing. Structural and Free Energy Landscape of Novel Mutations in Ribosomal Protein S1 (RpsA) Associated with Pyrazinamide Resistance. Scientific Reports (Nature Publisher Group); London 9 (May 2019): 1–12. (Read the article)
  24. Kontos, Georgios, Jennifer Kwan, Kanmin Xue, Maria I. Patrício, Penny Clouston, Emily Packham, Robert E. MacLaren, and Susan M. Downes. Atypical Choroideremia Presenting with Early-Onset Macular Atrophy. Acta Ophthalmologica 97, no. 6 (2019): 633–36. (Read the article)
  25. Li, Jun, Yunliang Shi, Weiwei Zhang, Hui Yan, Kangming Lin, Shujiao Wei, Haiyan Wei, et al. K13-Propeller Gene Polymorphisms of Plasmodium Falciparum and the Therapeutic Effect of Artesunate among Migrant Workers Returning to Guangxi, China (2014–2017). Malaria Journal 18, no. 1 (October 1, 2019): 1–7. (Read the article)
  26. Li, Long, Yulan Qin, Yajie Su, Haili Jiang, Nuerya Rejiafu, Mingzhu Li, Ayijiamali Muhetaer,
    Yongqiao Liu, and Yan Ren. Gene Mutation and Pedigree Analysis of Tetrahydrobiopterin Deficiency in a Uygur Family of China. Journal of Clinical Laboratory Analysis 33, no. 2 (2019): e22665. (Read the article)
  27. Li, Xiaojin, Wei Zhang, Donghu Zhou, Tingxia Lv, Anjian Xu, Hejing Wang, Xinyan Zhao, et al. Complex ATP7B Mutation Patterns in Wilson Disease and Evaluation of a Yeast Model for Functional Analysis of Variants. Human Mutation 40, no. 5 (2019): 552–65. (Read the article)
  28. Li, Xin, Qing Cheng, Yu Ding, Qun Li, Ruen Yao, Jian Wang, and Xiumin Wang. TRMA Syndrome with a Severe Phenotype, Cerebral Infarction, and Novel Compound Heterozygous SLC19A2 Mutation: A Case Report. BMC Pediatrics 19, no. 1 (July 1, 2019): 1–6. (Read the article)
  29. Lv, Mingming, Guoling You, Jinbing Wang, Qihua Fu, Anand Gupta, Jun Li, and Jian Sun.
    Identification of a Novel ANO5 Missense Mutation in a Chinese Family with Familial Florid Osseous Dysplasia. Journal of Human Genetics 64, no. 7 (July 2019): 599–607. (Read the article)
  30. Madani, Hanan, Rasha Elkaffas, Badawy Alkholy, Noha Musa, Yomna Shaalan, Rania Elkaffas, Mona Hassan, et al. Identification of Novel Variants in Neonatal Diabetes Mellitus Genes in Egyptian Patients with Permanent NDM. International Journal of Diabetes in Developing Countries 39, no. 1 (January 1, 2019): 53–59. (Read the article)
  31. McKenna, Malachi J., Julie Martin-Grace, Rachel Crowley, Patrick J. Twomey, and Mark T. Kilbane. Congenital Hypophosphataemia in Adults: Determinants of Bone Turnover Markers and Amelioration of Renal Phosphate Wasting Following Total Parathyroidectomy. Journal of Bone and Mineral Metabolism 37, no. 4 (July 1, 2019): 685–93. (Read the article)
  32. Mei, Fanbiao, Jingjing Ren, Long Long, Jilin Li, Kezhi Li, Haizhou Liu, Yanping Tang, et al.
    Analysis of HBV X Gene Quasispecies Characteristics by Next-Generation Sequencing and Cloning-Based Sequencing and Its Association with Hepatocellular Carcinoma Progression. Journal of Medical Virology 91, no. 6 (2019): 1087–96. (Read the article)
  33. Nada, Dina, Cédric Julien, Pierre H. Rompré, Marie-Yvonne Akoume, Kristen F. Gorman, Mark E. Samuels, Emile Levy, Jason Kost, Dawei Li, and Alain Moreau. Association of Circulating YKL-40 Levels and CHI3L1 Variants with the Risk of Spinal Deformity Progression in Adolescent Idiopathic Scoliosis. Scientific Reports 9, no. 1 (April 1, 2019): 1–13. (Read the article)
  34. Niu, Li, Yufei Xu, Yi Zhang, Guoqiang Li, Tingting Yu, Ruen Yao, YunFang Zhou, et al. Biallelic ERBB3 Loss-of-Function Variants Are Associated with a Novel Multisystem Syndrome without Congenital Contracture. Orphanet Journal of Rare Diseases; London 14 (2019): 1–10. (Read the article)
  35. Padula, Maria Carmela, Pietro Leccese, Nancy Lascaro, Angela Anna Padula, Teresa Carbone, Giuseppe Martelli, and Salvatore D’Angelo. Identification of a de Novo NLRP3 Gene Variation in an Italian Behçet Syndrome Patient. International Journal of Immunogenetics 46, no. 5 (2019): 339–41. (Read the article)
  36. Padula, Maria Carmela, Pietro Leccese, Emanuela Pellizzieri, Angela Anna Padula, Michele Gilio, Teresa Carbone, Nancy Lascaro, Giuseppina Tramontano, Giuseppe Martelli, and Salvatore D’Angelo. Distribution of Rs17482078 and Rs27044 ERAP1 Polymorphisms in a Group of Italian Behçet’s Syndrome Patients: A Preliminary Case–Control Study. Internal and Emergency Medicine 14, no. 5 (August 1, 2019): 713–18. (Read the article)
  37. Papachristoforou, Rena, Petros P. Petrou, Hilary Sawyer, Maggie Williams, and Anthi Drousiotou. Classic Galactosaemia in the Greek Cypriot Population: An Epidemiological and Molecular Study. Annals of Human Genetics 83, no. 5 (2019): 291–98. (Read the article)
  38. Paradis, C., M. Cadieux-Dion, C. Meloche, M. Gravel, J. Paradis, A. Des Roches, G. Leclerc, P. Cossette, and P. Begin. TREX-1-Related Disease Associated with the Presence of
    Cryofibrinogenemia.
    Journal of Clinical Immunology 39, no. 1 (January 1, 2019): 118–25. (Read the article)
  39. Pareja, Fresia, Arnaud Da Cruz Paula, Melissa P. Murray, Timothy Hoang, Rodrigo Gularte-Mérida, David Brown, Edaise M. da Silva, et al. Recurrent MED12 Exon 2 Mutations in Benign Breast Fibroepithelial Lesions in Adolescents and Young Adults. Journal of Clinical Pathology 72, no. 3 (March 1, 2019): 258–62. (Read the article)
  40. Pater, Justin A., Jane Green, Darren D. O’Rielly, Anne Griffin, Jessica Squires, Burt Taylor, Sara Fernandez, et al. Novel Usher Syndrome Pathogenic Variants Identified in Cases with Hearing and Vision Loss. BMC Medical Genetics; London 20 (2019). (Read the article)
  41. Peterson, Jess F., Rhett P. Ketterling, Li Huang, Laura E. Finn, Min Shi, Nicole L. Hoppman, Patricia T. Greipp, and Linda B. Baughn. A Near-Haploid Clone Harboring a BCR/ABL1 Gene Fusion in an Adult Patient with Newly Diagnosed B-Lymphoblastic Leukemia. Genes, Chromosomes and Cancer 58, no. 9 (2019): 665–68. (Read the article)
  42. Poles, Anthony, Geoff Lucas, Frances Green, Piers Walser, Sue Davey, Kay Ridgwell, and Philip Wylie. Neonatal Alloimmune Thrombocytopenia Due to a New Alloantigen Bl(a) Defined by an Asp458Gly Substitution in GPIIIa. Transfusion 59, no. 1 (2019): 396–404. (Read the article)
  43. Pop, Ana, Eduard A. Struys, Erwin E. W. Jansen, Matilde R. Fernandez, Warsha A. Kanhai, Silvy J. M. van Dooren, Senay Ozturk, et al. D-2-Hydroxyglutaric Aciduria Type I: Functional Analysis of D2HGDH Missense Variants. Human Mutation 40, no. 7 (2019): 975–82. (Read the article)
  44. Ruiz-Heiland, G., S. Lenz, N. Bock, and S. Ruf. Prevalence of WNT10A Gene Mutations in Non-Syndromic Oligodontia. Clinical Oral Investigations 23, no. 7 (July 1, 2019): 3103–13. (Read the article)
  45. Sahli, Maryem, Abdelali Zrhidri, Siham Chafai Elaloui, Wiam Smaili, Jaber Lyahyai, Fatima Zohra Oudghiri, and Abdelaziz Sefiani. Clinical Exome Sequencing Identifies Two Novel Mutations of the SCN1A and SCN2A Genes in Moroccan Patients with Epilepsy: A Case Series. Journal of Medical Case Reports 13, no. 1 (August 1, 2019): 1–4. (Read the article)
  46. Schwarze, Ulrike, Tim Cundy, Yajuan J. Liu, Paul L. Hofman, and Peter H. Byers. Compound Heterozygosity for a Frameshift Mutation and an Upstream Deletion That Reduces Expression of SERPINH1 in Siblings with a Moderate Form of Osteogenesis Imperfecta. American Journal of Medical Genetics Part A 179, no. 8 (2019): 1466–75. (Read the article)
  47. Siraj, Abdul K., Sandeep Kumar Parvathareddy, Rong Bu, Kaleem Iqbal, Sarah Siraj, Tariq Masoodi, Rica Micaela Concepcion, et al. Germline POLE and POLD1 Proofreading Domain Mutations in Endometrial Carcinoma from Middle Eastern Region. Cancer Cell International; London 19 (2019): 1–9. (Read the article)
  48. Tan, Yi-Hung Carol, Saumya Srivastava, Brian M. Won, Rajani Kanteti, Qudsia Arif, Aliya N.
    Husain, Hubert Li, et al. EPHA2 Mutations with Oncogenic Characteristics in Squamous Cell Lung Cancer and Malignant Pleural Mesothelioma. Oncogenesis 8, no. 9 (September 1, 2019): 1–11. (Read the article)
  49. Veldic, Marin, Vincent Millischer, John D. Port, Ada Man-Choi Ho, et al. Genetic Variant in SLC1A2 Is Associated with Elevated Anterior Cingulate Cortex Glutamate and Lifetime History of Rapid Cycling. Translational Psychiatry; London 9 (May 2019): 1–10. (Read the article)
  50. Vishwakarma, Gautam, Ravi Prakash Sanyal, Ajay Saini, Parmeshwar Kumar Sahu, Ravi Raj Singh Patel, Deepak Sharma, Ratan Tiwari, and Bikram Kishore Das. GLADS: A Gel-Less Approach for Detection of STMS Markers in Wheat and Rice. PLoS ONE 14, no. 11 (January 1, 2019): e0224572. (Read the article)
  51. Vosberg, Daniel E., Vincent Beaulé, Angélica Torres-Berrío, Danielle Cooke, Amanda Chalupa, Natalia Jaworska, Sylvia M. L. Cox, et al. Neural Function in DCC Mutation Carriers with and without Mirror Movements. Annals of Neurology 85, no. 3 (2019): 433–42. (Read the article)
  52. Wang, Linlin, Aiguo Ren, Tian Tian, Nan Li, Xuanye Cao, Peng Zhang, Lei Jin, et al. Whole-Exome Sequencing Identifies Damaging de Novo Variants in Anencephalic Cases. Frontiers in Neuroscience 13 (November 1, 2019). (Read the article)
  53. Wang, Tao, Qinggang Li, Shunlai Shang, Guangrui Geng, Yuansheng Xie, Guangyan Cai, and Xiangmei Chen. Identifying Gene Mutations of Chinese Patients with Polycystic Kidney Disease through Targeted Next-Generation Sequencing Technology. Molecular Genetics & Genomic Medicine 7, no. 6 (2019): e720. (Read the article)
  54. Wang, Xiong, Yan-wei Sha, Wen-ting Wang, Yuan-qing Cui, Jie Chen, Wei Yan, Xiao-tao Hou, Li-bin Mei, Cui-cui Yu, and Jiahui Wang. Novel IFT140 Variants Cause Spermatogenic Dysfunction in Humans. Molecular Genetics & Genomic Medicine 7, no. 9 (September 1, 2019): n/a-n/a. (Read the article)
  55. Wooderchak-Donahue, Whitney L., Gulsen Akay, Kevin Whitehead, Eric Briggs, David A.
    Stevenson, Brendan O’Fallon, Matthew Velinder, et al. Phenotype of CM-AVM2 Caused by Variants in EPHB4 : How Much Overlap with Hereditary Hemorrhagic Telangiectasia (HHT)? Genetics in Medicine 21, no. 9 (September 2019): 2007–14. (Read the article)
  56. Xue, Mingming, Juan Cheng, Jiangyun Zhao, Shuling Zhang, Jinli Jian, Yanhong Qiao, and Bei Liu. Outcomes of 219 Chronic Myeloid Leukaemia Patients with Additional Chromosomal Abnormalities and/or Tyrosine Kinase Domain Mutations. International Journal of Laboratory Hematology 41, no. 1 (2019): 94–101. (Read the article)
  57. Yan, Xiaoyi, Jie Lin, Yifan Wang, Junli Xuan, Ping Yu, Tingwei Guo, and Jin Fan. A Novel Small Deletion of LMX1B in a Large Chinese Family with Nail-Patella Syndrome. BMC Medical Genetics; London 20 (2019). (Read the article)
  58. Yang, Yan-mei, Kai Yan, Bei Liu, Min Chen, Li-ya Wang, Ying-zhi Huang, Ye-qing Qian, Yi-xi Sun, Hong-ge Li, and Min-yue Dong. Comprehensive Genetic Diagnosis of Patients with Duchenne/Becker Muscular Dystrophy (DMD/BMD) and Pathogenicity Analysis of Splice Site Variants in the DMD Gene. Journal of Zhejiang University. Science. B 20, no. 9 (September 2019): 753–65. (Read the article)
  59. Ye, Ziqing, Ying Huang, Cuifang Zheng, Yuhuan Wang, Junping Lu, Huijun Wang, Bingbing Wu, Xiaochuan Wang, Rong Zhang, and Jin Wang. Clinical and Genetic Spectrum of Children with Congenital Diarrhea and Enteropathy in China. Genetics in Medicine 21, no. 10 (October 2019): 2224–30. (Read the article)
  60. Zhang, Ran-ran, Ke Cai, Lian Liu, Qian Yang, Ping Zhang, Yong-hao Gui, and Feng Wang. A Regulatory Variant in TBX2 Promoter Is Related to the Decreased Susceptibility of Congenital Heart Disease in the Han Chinese Population. Molecular Genetics & Genomic Medicine 7, no. 2 (2019): e00530. (Read the article)
  61. Zhao, Zhengshan, Yongkun Zhan, Weicheng Chen, Xiaojing Ma, Wei Sheng, and Guoying Huang. Functional Analysis of Rare Variants of GATA4 Identified in Chinese Patients with Congenital Heart Defect. Genesis 57, no. 11–12 (2019): e23333. (Read the article)
  62. Zhou, Yongan, Chao Li, Min Li, Zhonghua Zhao, Shuxiong Tian, Hou Xia, Peixian Liu, et al.
    Mutation Analysis of Common Deafness Genes among 1,201 Patients with Non-Syndromic Hearing Loss in Shanxi Province. Molecular Genetics & Genomic Medicine 7, no. 3 (2019): e537. (Read the article)
  63. Zhytnik, Lidiia, Katre Maasalu, Binh Ho Duy, Andrey Pashenko, Sergey Khmyzov, Ene Reimann, Ele Prans, Sulev Kõks, and Aare Märtson. IFITM5 Pathogenic Variant Causes Osteogenesis Imperfecta V with Various Phenotype Severity in Ukrainian and Vietnamese Patients. Human Genomics 13, no. 1 (June 1, 2019): 1–11. (Read the article)

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2017

  1. Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency
    Li, et al
    International Journal of Molecular Sciences (Read the article)
  2. Clinical characteristics and treatment outcome in a large multicentre observational cohort of PDGFRA exon 18 mutated gastrointestinal stromal tumour patients
    S Farag, et al
    European Journal of Cancer Volume 76, May 2017, Pages 76–83 (Read the article)
  3. Pre‐clinical validation of a selective anti‐cancer stem cell therapy for Numb‐deficient human breast cancers
    Tosoni, et al
    EMBO Molecular Medicine (2017) e201606940 (Read the article)
  4. Multiple clinical characteristics separate MED12-mutation- positive and -negative uterine leiomyomas
    Heinonen, et al
    Scientific Reports 7, Article number: 1015 (2017) doi:10.1038/s41598-017- 01199-0 (Read the article)
  5. EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension
    Best et al
    Chest Journal April 2017, Vol 151, No. 4 (Read the article)
  6. A comprehensive SNP-based genetic analysis of inbred mouse strains
    Tsang, et al
    Mammalian Genome 16(7):476-80 (Read the article)
  7. Clinicopathological features and outcome of chronic lymphocytic leukaemia in Chinese patients
    T. Chan et al
    Oncotarget. 2017; 8:25455-25468. doi: 10.18632/oncotarget.16037 (Read the article)
  8. Primary Clear Cell Microcystic Adenoma of the Sinonasal Cavity: Pathological or Fortuitous Association?
    Cooper, et al
    Case Reports in Pathology Volume 2017 (2017), Article ID 9236780, 5 pages (Read the article)
  9. Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus
    Yau, et al
    Diagn Pathol. 2017; 12: 1. Published online 2017 Jan 3. doi: 10.1186/s13000-016-0592-1 (Read the article)
  10. Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity
    Mendes, et al
    Human Mutation First published: 14 February 2017 (Read the article)
  11. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
    Reynolds et al
    Nature Genetics (2017) doi:10.1038/ng.3790 (Read the article)
  12. Validation of an Extensive CYP2D6 Assay Panel Based on Invader and TaqMan Copy Number Assays
    Leung et al
    Journal of Applied Laboratory Medicine DOI: 10.1373/jalm.2016.021923 Published February 2017 (Read the article)
  13. MED12 is recurrently mutated in Middle Eastern colorectal cancer
    Siraj et al (Read the article)
  14. Immunohistochemical and Molecular Features of Gastric Hyperplastic Polyps
    Saab et al
    Advances in Cytology & Pathology
    Volume 2 Issue 1 – 2017 (Read the article)
  15. Potential actionable targets in appendiceal cancer detected by immunohistochemistry, fluorescent in situ hybridization, and mutational analysis
    Borazanci et al
    Journal of Gastrointestinal Oncology
    Vol 8, No 1 (February 2017) (Read the article)

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2015-2016

  1. Exome Sequencing Reveals Germline Gain-of- Function EGFR Mutation in an Adult with Lhermitte-Duclos Disease
    Colby, et al (Read the article)
  2. GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism
    Guan, et al (Read the article)
  3. HIRA Gene is Lower Expressed in the Myocardium of Patients with Tetralogy of Fallot

    Zhao, et al (Read the article)

  4. CLN8 disease caused by large genomic deletions

    Beesley, et al

    Molecular Genetics & Genomic Medicine

    Early View, Version of Record online: 23 NOV 2016 (Read the article)

  5. Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

    Reis, et al

    Molecular Vision 2016; 22:1229-1238 (Read the article)

  6. The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

    Mata, et al

    l. Molecular Neurodegeneration (2015) 10:50 DOI 10.1186/s13024-015- 0045-4 (Read the article)

  7. Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations

    Huang-Doran, et al

    insight.jci.org doi:10.1172/jci.insight.88766

  8. Child–Parent Familial Hypercholesterolemia Screening in Primary Care

    Wald, et al

    N Engl J Med 2016;375:1628-37. DOI: 10.1056/NEJMoa1602777 (Read the article)

  9. Organophosphorus (OP) substances trigger toxic symptoms including convulsions coma and loss (Read the article)
  10. Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta

    Duy et al

    Human Genomics201610:27 DOI: 10.1186/s40246-016- 0083-1 (Read the article)

  11. Integrated molecular pathway analysis informs a synergistic combination therapy targeting PTEN/PI3K and EGFR pathways for basal-like breast cancer

    She et al

    BMC Cancer. 2016; 16: 587 (Read the article)

  12. Mutational profiling of kinases in glioblastoma
    Bleeker et al

    Cancer 2014, 14:718 (Read the article)

  13. Human Determinants and the Role of Melanocortin-1 Receptor Variants in Melanoma Risk Independent of UV Radiation Exposure
    Wendt et al

    JAMA Dermatol. 2016;152(7):776-782. doi:10.1001/jamadermatol.2016.0050 (Read the article)

  14. Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome
    Wang et al

    Molecular Vision June 23, 2016 (Read the article)

  15. Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk
    Jingjing Liu, Wendy J. C. Prager–van der Smissen, Marjanka K. Schmidt, J. Margriet Collée, Sten Cornelissen, Roy Lamping, Anja Nieuwlaat, John A. Foekens, Maartje J. Hooning, Senno Verhoef, Ans M. W. van den Ouweland, Frans B. L. Hogervorst, John W. M. Martens & Antoinette Hollestelle

    Nature Scientific Reports 6, Article number: 30026 (2016) (Read the article)

  16. Ultrasensitive measurement of hotspot mutations in tumor DNA in blood using error-suppressed multiplexed deep sequencing
    Azeet Narayan, Nicholas J. Carriero, Scott N. Gettinger, Jeannie Kluytenaar, Nicole E. Muscato6, Kevin R. Kozak, Pedro Ugarelli, Torunn I. Yock, Roy H. Decker, Abhijit A. Patel (Read the article)
  17. MDL based method for identifying differentially methylated regions in high density methylation array data

    Raivo Kolde, Kaspar Martens, Kaie Lokk, Jaak Vilo (Read the article)

  18. Functional and transport analyses of CLCN5 genetic changes identified in Dent disease patients

    Tang, et al (Read the article)

  19. NGS-based assay for frequent newborn inherited diseases: from development to implementation

    Simakova, et al (Read the article)

  20. Somatic Mutations and Genetic Variants of NOTCH1 in Head and Neck Squamous Cell Carcinoma Occurrence and Development

    Yu-Fan Liu, et al (Read the article)

  21. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

    Trump et al (Read the article)

  22. Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

    Wang, et al (Read the article)

  23. The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease
    Mata et al. Molecular Neurodegeneration (2015) 10:50. DOI 10.1186/s13024-015-0045-4 (Read the article)
  24. De novo variants in sporadic cases of childhood onset schizophrenia
    Amirthagowri Ambalavana etal. European Journal of Human Genetics advance online publication 28 October 2015; doi: 10.1038/ejhg.2015.218 (Read the article)
  25. Imprinting control regions (ICRs) are marked by mono-allelic bivalent chromatin when transcriptionally inactive
    Stéphanie Maupetit-Méhouas, Bertille Montibus, David Nury, Chiharu Tayama, Michel Wassef, Satya K. Kota, Anne Fogli, Fabiana Cerqueira Campos, Kenichiro Hata, Robert Feil, Raphael Magueron, Kazuhiko Nakabayashi, Franck Court and Philippe Arnaud (Read the article)

  26. The RAB39B p.G192R mutation causes X-linked dominant Parkinson’s disease
    Ignacio F. Mata, Yongwoo Jang, Chun-Hyung Kim, David S. Hanna, Michael O. Dorschner, Ali Samii, Pinky Agarwa, John W. Roberts, Olga Klepitskaya, David R. Shprecher, Kathryn A. Chung, Stewart A. Factor, Alberto J. Espay, Fredy J. Revilla, Donald S. Higgins, Irene Litvan, James B. Leverenz, Dora Yearout, Miguel Inca-Martinez, Erica Martinez, Tiffany R. Thompson, Brenna A. Cholerton, Shu-Ching Hu, Karen L. Edwards, Kwang-Soo Kim and Cyrus P. Zabetian (Read the article)

  27. Genomic analyses reveal recurrent mutations in epigenetic modifiers and the JAK–STAT pathway in Sézary syndrome
    Mark J. Kiel, Anagh A. Sahasrabuddhe, Delphine C. M. Rolland, Thirunavukkarasu Velusamy, Fuzon Chung, Matthew Schaller, Nathanael G. Bailey, Bryan L. Betz, Roberto N. Miranda, Pierluigi Porcu, John C. Byrd, L. Jeffrey Medeiros, Steven L. Kunkel, David W. Bahler, Megan S. Lim & Kojo S. J. Elenitoba-Johnson (Read the article)

  28. Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke
    Laura L. Kilarski, Loes C. A. Rutten-Jacobs, Steve Bevan, Rob Baker, Ahamad Hassan, Derralynn A. Hughes, Hugh S. Markus, and UK Young Lacunar Stroke DNA Study. PLoS Onev.10(8); 2015PMC4549151 (Read the article)

  29. Structural insight into selectivity and resistance profiles of ROS1 tyrosine kinase inhibitors
    Monika A. Davare et. al. ( Read the article)

  30. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours
    Sarah F. Barclay, Casey M. Rand, Lauren A. Borch, Lisa Nguyen, Paul A. Gray, William T. Gibson, Richard J. A. Wilson, Paul M. K. Gordon, Zaw Aung, Elizabeth M. Berry-Kravis, Diego Ize-Ludlow, Debra E. Weese-Mayer and N. Torben Bech-Hansen (Read the article)

  31. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
    Laura A. Jansen , Ghayda M. Mirzaa , Gisele E. Ishak , Brian J. O'Roak , Joseph B. Hiatt , William H. Roden , Sonya A. Gunter , Susan L. Christian , Sarah Collins , Carissa Adams , Jean-Baptiste Rivière , Judith St-Onge , Jeffrey G. Ojemann , Jay Shendure , Robert F. Hevner , William B. Dobyns; First published online: 26 February 2015 (Read the article)
  32. Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts
    Brett Deml, Ariana Kariminejad, Razieh H. R. Borujerdi, Sanaa Muheisen, Linda M. Reis, Elena V. Semina (Read the article)
  33. Diagnosis and treatment of neonatal diabetes: an United States experience
    Stoy et al (Read the article)
  34. Novel recurrently mutated genes in African American colon cancers
    K. Guda et al, PNAS 2015 112 (4) 1149-1154 (Read the article)

  35. Mucosal Malignant Melanoma of Inferior Concha and Nasal Septum: A Case Report with Mutation Analysis
    Ismail Yilmaz et al J Otol Rhinol 2014, 3:6 (Read the article)
  36. A murine model for metastatic conjunctival melanoma
    de Waard NE, Cao J, McGuire SP, et al. Invest Ophthalmol Vis Sci. 2015;56:2325–2333. DOI:10.1167/iovs.14-15239 (Read the article)

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2013-2014

  1. ATM gene mutations in sporadic breast cancer patients from Brazil
    Flavia Rotea Mangone et al (Read the article)

  2. Targeted deletion and inversion of tandemly arrayed genes in Arabidopsis thaliana using zinc finger nucleases
    Yiping Qi et. al ; G3: Genes|Genomes|Genetics Early Online, published on August 26, 2013 as doi:10.1534/g3.113.006270 (Read the article)

  3. Relapse specific mutations in NT5C2 in childhood acute lymphoblastic leukemia
    Julia A. Meyer et al; Nat Genet. 2013 March; 45(3): 290-294. (Read the article)

  4. An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
    Michael N Weedon,et. al ; Nature Genetics 45, 947-950 (2013) doi:10.1038/ng.2670 (Read the article)

  5. Muscle Hemangiomatosis Presenting as a Severe Feature in a Patient with the Pten Mutation: Expanding the Phenotype of Vascular Malformations in Bannayan-Riley-ruvalcaba Syndrome
    Soysal Y,Acun T,Lourenço CM,4 Marques W Jr, Yakıcıer MC; BJMG 15/1 (2012) 45-50 10.2478/v10034-012-0007- (Read the article)

  6. Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption
    Lotte Risom, Line Christoffersen, Jette Daugaard-Jensen, Hanne Dahlgaard Hove,Henriette Skovgaard Andersen, Brage Storstein Andresen, Sven Kreiborg, and Morten Duno
    PLoS One. 2013; 8(9): e74601. (Read the article)

  7. Concurrent MEK2 Mutation and BRAF Amplification Confer Resistance to BRAF and MEK Inhibitors in Melanoma
    Villanueva et al; Cell Reports, 19 September 2013 (Read the article)

  8. Acetylated Tau Neuropathology in Sporadic and Hereditary Tauopathies
    David J. Irwin,Todd J. Cohen,Murray Grossman,Steven E. Arnold Elisabeth McCarty-Wood, Vivianna M. Van Deerlin, Virginia M.-Y. Lee, and John Q. Trojanowski; The American Journal of Pathology, Vol. 183, No. 2, August 2013 (Read the article)

  9. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
    Hum. Mol. Genet. first published online August 4, 2013 (Read the article)

  10. Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics
    Reza Vazifehmand, Sandro Rossetti, Sassan Saber, Hamid Reza Khorram Khorshid and Peter C Harris (Read the article)

2011-2012

  1. Carriers of a novel frame-shift insertion in WNT16a possess elevated pancreatic expression of TCF7L2
    Eric W Howard1, Latonya F Been2, Megan Lerner3, Daniel Brackett4, Stan Lightfoot3, Elizabeth C Bullen1 and Dharambir K Sanghera2* (Read the article)

  2. Intellectual disability associated with a homozygous missense mutation in THOC6
    Chandree L Beaulieu, Lijia Huang, A M Innes, Marie-Andree Akimenko, Erik G Puffenberger, Charles Schwartz, Paul Jerry, Carole Ober, Robert A Hegele, D R McLeod, Jeremy Schwartzentruber, FORGE Canada Consortium, Jacek Majewski, Dennis E Bulman, Jillian S Parboosingh and Kym M Boycott (Read the article)

  3. SLITRK6 mutations cause myopia and deafness in humans and mice
    Mustafa Tekin, Barry A. Chioza, Yoshifumi Matsumoto, Oscar Diaz-Horta, Harold E. Cross, Duygu Duman, Haris Kokotas, Heather L. Moore-Barton7, Kazuto Sakoori, Maya Ota, Yuri S. Odaka4, Joseph Foster, II, F. Basak Cengiz, Suna Tokgoz-Yilmaz, Oya Tekeli, Maria Grigoriadou, Michael B. Petersen, Ajith Sreekantan-Nair, Kay Gurtz, Xia-Juan Xia, Arti Pandya, Michael A. Patton, Juan I. Young, Jun Aruga and Andrew H. Crosby (Read the article)

  4. Copy Number Aberrations of Genes Regulating Normal Thymus Development in Thymic Epithelial Tumors
    Iacopo Petrini, Yisong Wang, Paolo A. Zucali, Hye Seung Lee, Trung Pham, Donna Voeller, Paul S. Meltzer, and Giuseppe Giaccone (Read the article)
  5. G6PD Deficiency in Palestinian children increases risk of hospitalization which differs according to G6PD variant N. Scott Reading, Mahmoud Sirdah, Sherrie L. Perkins, Andrew R. Wilson, Mohammad E. Shubair, Lina Aboud and Josef T. Prchal (Read the article)

  6. PIK3CA exon 20 mutations are associated with poor prognosis in breast cancer patients Flavia R. Mangone, Irina G. Bobrovnitchaia, Sibeli Salaorni, Erika Manuli, and Maria A. Nagai (Read the article)

  7. A combined oncogenic pathway signature of BRAF, KRAS and PI3KCA mutation improves colorectal cancer classification and cetuximab treatment prediction Tian Sun, Iris Simon, Victor Moreno, Paul Roepman, Josep Tabernero, Mireille Snel, Laura van't Veer, Ramon Salazar, Rene Bernards, Gabriel Capella (Read the article)

  8. Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada Annika F.M. Haywood1, Nancy D. Merner, Kathy A. Hodgkinson, Jim Houston, Petros Syrris, Valerie Booth, Sean Connors, Antonios Pantazis, Giovanni Quarta, Perry Elliott, William McKenna and Terry-Lynn Young (Read the article)

  9. Translocation t(11;17) in de novo Myelodysplastic Syndrome Not Associated with Acute Myeloid or Acute Promyelocytic Leukemia Muhamed Baljevica, Omar Abdel-Wahabb, c, Raajit Rampalb, Peter G. Maslakb, Virginia M. Klimekb, Todd L. Rosenblatb, Dan Douerb, Ross L. Levineb, c, Martin S. Tallmanb (Read the article)

  10. Novel p.C620L RET Mutation Detected in a Patient with Medullary Thyroid Carcinoma Rebecca L. Margraf, Patti M. F. Krautscheid, David C. Pattison, Karl V. Voelkerding, Rong Mao (Read the article)

  11. Mutation Patterns of 16 Genes in Primary and Secondary Acute Myeloid Leukemia (AML) with Normal Cytogenetics Marta Fernandez-Mercado, Bon Ham Yip, Andrea Pellagatti, Carwyn Davies, Marı´a Jose´ Larrayoz, Toshinori Kondo, Cristina Pe´ rez, Sally Killick, Emma-Jane McDonald, Marı´a Dolores Odero,
    Xabier Agirre, Felipe Pro´ sper, Marı´a Jose´ Calasanz, James S. Wainscoat, Jacqueline Boultwood (Read the article)

  12. PITX2 and FOXC1 spectrum of mutations in ocular syndromes
    Linda M Reis, Rebecca C Tyler, Bethany A Volkmann Kloss, Kala F Schilter, Alex V Levin, R Brian Lowry, Petra J G Zwijnenburg, Eliza Stroh, Ulrich Broeckel, Jeffrey C Murray and Elena V Semina
    European Journal of Human Genetics , (9 May 2012) | doi:10.1038/ejhg.2012.80 (Read the article)

  13. Germline BRCA1 mutations increase prostate cancer risk
    D Leongamornlert, N Mahmud, M Tymrakiewicz, E Saunders, T Dadaev, E Castro, C Goh, K Govindasami, M Guy, L O'Brien, E Sawyer1, A Hall, R Wilkinson, D Easton, The UKGPCS Collaborators, D Goldgar, R Eeles and Z Kote-Jarai1 (Read the article)

  14. Hepatitis C Viral Evolution in Genotype 1 Treatment-Naıve and Treatment-Experienced Patients Receiving Telaprevir-Based Therapy in Clinical Trials
    Tara L. Kieffer1*, Sandra De Meyer2, Doug J. Bartels1, James C. Sullivan1, Eileen Z. Zhang1, Ann Tigges1,
    Inge Dierynck2, Joan Spanks1, Jennifer Dorrian1, Min Jiang1, Bambang Adiwijaya1, Anne Ghys2,
    Maria Beumont2, Robert S. Kauffman1, Nathalie Adda1, Ira M. Jacobson3, Kenneth E. Sherman4,
    Stefan Zeuzem5, Ann D. Kwong1, Gaston Picchio6
    1 Vertex Pharmaceuticals Incorporated, Cambridge, Massachusetts, United States of America, 2 Janssen Infectious Diseases BVBA, Beerse, Belgium, 3 Weill Cornell Medical College, New York, New York, United States of America, 4 University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America, 5 Johann Wolfgang Goethe University Medical Center, Frankfurt am Main, Germany, 6 Janssen Research and Development, Titusville, New Jersey, United States of America (Read the article)
  15. Mesenchymal Transition and PDGFRA Amplification/Mutation Are Key Distinct Oncogenic Events in Pediatric Diffuse Intrinsic Pontine Gliomas
    Stephanie Puget, Cathy Philippe, Dorine A. Bax, Bastien Job, Pascale Varlet, Marie-Pierre Junier, Felipe Andreiuolo, Dina Carvalho, Ricardo Reis, Lea Guerrini-Rousseau, Thomas Roujeau, Philippe Dessen, Catherine Richon, Vladimir Lazar, Gwenael Le Teuff, Christian Sainte-Rose, Birgit Geoerger, Gilles Vassal, Chris Jones, Jacques Grill (Read the article)

  16. Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers
    Nadine Tung, Alexander Miron, Stuart J Schnitt, Shiva Gautam, Katharina Fetten, Jennifer Kaplan, Yosuf Yassin, Ayodele Buraimoh2, Ji-Young Kim, Attila M Szász, Ruiyang Tian, Zhigang C Wang, Laura C Collins, Jane Brock, Karen Krag, Robert D Legare, Dennis Sgroi, Paula D Ryan, Daniel P Silver, Judy E Garber, Andrea L Richardson (Read the article)

  17. A Novel Splicing Mutation Alters DSPP Transcription and Leads to Dentinogenesis Imperfecta Type II (Read the article)

  18. Natriuretic peptide pharmacogenetics: Membrane metallo-endopeptidase (MME): Common gene sequence variation, functional characterization and degradation Naveen L. Pereira, Pinar Aksoy, Irene Moon, Yi Pen, Margaret M. Redfield, John C. Burnett Jr., Eric D. Wieben, Vivien C. Yee, Richard M. Weinshilboum (Read the article)

  19. Replication of the Association of a MET Variant with Autism in a Chinese Han Population Xue Zhou, Yang Xu, Jia Wang, Hongbo Zhou, Xian Liu, Qasim Ayub, Xuelai Wang, Chris Tyler-Smith, Lijie Wu, Yali Xue (Read the article)

  20. Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer (Read the article)

  21. Diagnosis and treatment of neonatal diabetes: an United States experience (Read the article)

  22. HVR-1 heterogeneity during treatment with telaprevir with or without pegylated interferon alfa-2a (Read the article)

  23. DNA Sequencing Electropherogram Interpretation (Read the article)

  24. Methionine Adenosyltransferase 2A/2B and Methylation: Gene Sequence Variation and Functional Genomics (Read the article)

  25. Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high resolution SNP-microarrays (Read the article)

  26. Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms (Read the article)

  27. EGFR Mutation Is a Better Predictor of Response to Tyrosine Kinase Inhibitors in Non-Small Cell Lung Carcinoma Than FISH, CISH, and Immunohistochemistry (Read the article)

  28. Analysis of the coding genome of diffuse large B-cell lymphoma (Read the article)

  29. KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2 (Read the article)

  30. The Y641C mutation of EZH2 alters substrate specificity for histone H3 lysine 27 methylation states (Read the article)

  31. Functional Role of the Polymorphic 647 T/C Variant of ENT1 (SLC29A1) and Its Association with AlcoholWithdrawal Seizures (Read the article)

  32. A Conserved Tryptophan at the Membrane-Water Interface Acts as a Gatekeeper for Kir6.2/SUR1 Channels and Causes Neonatal Diabetes when Mutated (Read the article)

  33. Avoidance of pseudogene interference in the detection of 3′deletions in PMS2 (Read the article)

  34. Germline mutations in RAD51D confer susceptibility to ovarian cancer (Read the article)

  35. Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML (Read the article)

  36. Simultaneous genotyping of multiple polymorphisms in human serotonin transporter gene and detection of novel allelic variants (Read the article)

  37. NF1 Exon 22 Analysis of Individuals with the Clinical Diagnosis of Neurofibromatosis Type 1 (Read the article)

  38. Efficient generation of a biallelic knockout in pigs using zinc-finger nucleases (Read the article)

  39. Mutation Surveyor: An In Silico Tool for Sequencing Analysis Chongmei Dong and Bing Yu (Read the article)

  40. An Evolutionary Conserved Role for Anaplastic Lymphoma Kinase in Behavioral Responses to Ethanol (Read the article)

  41. Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma (Read the article)

  42. The glycinergic system in human startle disease: a genetic screening approach (Read the article)

  43. Mutation surveyor: software for DNA sequence analysis (Read the article)

  44. Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML (Read the article)

  45. Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms (Read the article)

2009

  1. Chong D. 2009 Simultaneous mutation detection of three homoeologous genes in wheat by High Resolution Melting analysis and Mutation Surveyor^® *. /BMC Plant Biology/*, *9:*143. doi:10.1186/1471-2229-9-143

2007

  1. Timothy M. Frayling, Nicholas J. Timpson, Michael N. Weedon, Eleftheria Zeggini, Rachel M. Freathy, Cecilia M. Lindgren, John R. B. Perry, Katherine S. Elliott, Hana Lango, Nigel W. Rayner, Beverley Shields, Lorna W. Harries, Jeffrey C. Barrett, Sian Ellard, Christopher J. Groves, Bridget Knight, Ann-Marie Patch, Andrew R. Ness, Shah Ebrahim, Debbie A. Lawlor, Susan M. Ring, Yoav Ben-Shlomo, Marjo-Riitta Jarvelin, Ulla Sovio, Amanda J. Bennett, David Melzer, Luigi Ferrucci, Ruth J. F. Loos, In?s Barroso, Nicholas J. Wareham, Fredrik Karpe, Katharine R. Owen, Lon R. Cardon, Mark Walker, Graham A. Hitman, Colin N. A. Palmer, Alex S. F. Doney, Andrew D. Morris, George Davey-Smith, Andrew T. Hattersley, Mark I. McCarthy. A Common Variant in the FTO Gene Is Associated with Body Mass Index and Predisposes to Childhood and Adult Obesity. Science, 2007, April 12.

  2. Wee J. Chng;, Lawrence A. Loeb, Jason H. Bielas;, Bernard S. Strauss;, Tobias Sjöblom, Siân Jones, Laura D. Wood, D. Williams Parsons, Jimmy Lin, Thomas Barber, Diana Mandelker, Rebecca J. Leary, Janine Ptak, Natalie Silliman, Steve Szabo, Phillip Buckhaults, Christopher Farrell, Paul Meeh, Sanford D. Markowitz, Joseph Willis, Dawn Dawson, James K V. Willson, Adi F. Gazdar, James Hartigan, Leo Wu, Changsheng Liu, Giovanni Parmigiani, Ben Ho Park, Kurtis E. Bachman, Nickolas Papadopoulos, Bert Vogelstein, Kenneth W. Kinzler, and Victor E. Velculescu. Limits to the Human Cancer Genome Project? Science, 2007, 315: 762-766.

  3. Sangkyou Lee, Joon Jeong, Tadeusz Majewski, Steven E. Scherer, Mi-Sook Kim, Tomasz Tuziak, Kuang S. Tang, Keith Baggerly, Herbert Barton Grossman, Jain-Hua Zhou, Lanlan Shen, Jolanta Bondaruk, Saira S. Ahmed, Susmita Samanta, Philippe Spiess, Xifeng Wu, Slawomir Filipek, David McConkey, Menashe Bar-Eli, Jean-Pierre Issa, William F. Benedict, and Bogdan Czerniak. Forerunner genes contiguous to RB1 contribute to the development of in situ neoplasia. PNAS, 2007 Aug; doi: 10.1073/ pnas.0701771104.

  4. Juraj Stanik, Daniela Gasperikova, Magdalena Paskova, Lubomir Barak, Jana Javorkova, Emilia Jancova, Miriam Ciljakova, Peter Hlava, Jozef Michalek, Sarah E. Flanagan, Ewan Pearson, Andrew T. Hattersley, Sian Ellard and Iwar Klimes. Prevalence of permanent neonatal diabetes in slovakia and successful replacement of insulin. Journal of Clinical Endocrinology & Metabolism, 2007; 92(4), 1276-1282.

  5. WS Oetting. The 2006 Human Genome Variation Society scientific meeting. Human Mutation 2007; 28(5), 517-521.

  6. Rodrigo A. Toledo, Delmar M. Lourenco Jr, Flavia L. Coutinho, Elisangela Quedas, Ivone Mackowiack,Marcel C. C. Machado, Fabio Montenegro, Malebranche B. C. Cunha-Neto, Bernardo Liberman, Maria A. A. Pereira, Pedro H. S. Correa and Sergio P. A. Toledo. Novel MEN1 germline mutations in Brazilian families with Multiple endocrine neoplasia type. Clinical Endocrinology, 2007, June 06.

  7. E John. Major, Genomic Mutation Consequence Calculator. Bioinformatics, 2007; June 28.

  8. GS Sellick, M Qureshi, S Fielding, D Catovsky, RS, Germline mutations in SPI1 and MADD do not contribute to familial chronic lymphocytic leukaemia. Leukemia, 2007, 21(6): 1315-8

  9. M Mitchell, HL Fields, RL White, TM Meadoff,TM Meadoff,; G Joslyn; MC Rowbotham, The Asp 40 µ-opioid receptor allele does not predict naltrexone treatment efficacy in heavy drinkers, Journal of Clinical Psychopharmacology. 2007, 27(1): 112-114,.

  10. GT Powell, H Yang, C Tyler-Smith, Y Xue, SC Tyler. The population history of the Xibe in northern China: a comparison of autosomal, mtDNA and Y-chromosomal analyses of migration and gene flow. Forensic Science International: Genetics, 2007; 1:115-119.

  11. SH Korman, C Jakobs, PS Darmin, A Gutman, MS van ,Z Ben, I Dweikat, ID. Wexler and GS. Salomons. Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel. European Journal of Paediatric Neurology, 2007, 11(2):81-89

  12. MB Consugar, VJ Kubly, DJ Lager, CJ Hommerding, WC wong, E Bakker, VH Gattone, VE Torres, MH Breuning, PC Harris. Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Human genetic. 2007; 121(5):591-9.

  13. A Balakrishnan, EF. Bleeker, S Lamba, M Rodolfo, M Daniotti, A Scarpa, AA. van Tilborg, S Leenstra, C Zanon and A Bardelli ; Novel Somatic and Germline Mutations in Cancer Candidate Genes in Glioblastoma, Melanoma, and Pancreatic Carcinoma. Cancer Research, 2007, 67: 3545-3550.

  14. O'Toole, John; Otto, Edgar; Hoefele, Julia; Helou, Juliana; Hildebrandt, Friedhelm. Mutational analysis in 119 families with nephronophthisis; Pediatric Nephrology, 2007, 22(3): 366-370.

  15. FR Hirsch, M Varella-Garcia, F Cappuzzo, J McCoy, L Bemis, AC Xavier, R Dziadziuszko, P Gumerlock, K Chansky, H West, AF Gazdar, L Crino, DR Gandara, WA Franklin and PA Bunn, Jr; Combination of EGFR gene copy number and protein expression predicts outcome for advanced non-small-cell lung cancer patients treated with gefitinib. Annals of oncology. 2007, 18(4): 752-760.

  16. G Salomons,C Jakobs; L Pope; A Errami; M Potter; M Nowaczyk; S Olpin; N Manning; J Raiman; T Slade; M Champion; D Peck; D Gavrilov; R Hillman; G Hoganson; K Donaldson; J Shield; D Ketteridge; M Wasserstein; K Gibson; Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency; Journal of inherited metabolic disease ; 2007, 30(1): 23-28.

  17. WK Scott, S Schmidt, MA Hauser, P Gallins, N Schnetz-Boutaud KL Spencer, JR Gilbert, A Agarwal, EA Postel, JL Haines, MA Pericak-Vance; Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular egeneration. Ophthalmology. 2007, 114(6): 1151-6.

  18. AJ. Aldave , B Sonmez , N Bourla , G Schultz, JC. Papp ; AK. Salem ; S A. Rayner ; VS. Yellore ; Autosomal Dominant Cornea Plana is not Associated with Pathogenic Mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2; Ophthalmic Genetics. 2007, 28(2): 57 - 67.

  19. SC Collins, J Luan, AJ Thompson, A Daly, RK Semple, S O'rahilly, NJ Wareham, I Barroso. Adiponectin receptor genes: mutation screening in syndromes of insulin resistance and association studies for type 2 diabetes and metabolic traits in UK populations. Diabetologia, 2007, 50(3): 555-62.

  20. D Oglesbee , M He , N Majumder , J Vockley , A Ahmad , B Angle , B Burton , J Charrow , R Ensenauer , C Ficicioglu , L Keppen , D Marsden , S Tortorelli , S Hahn , D Matern. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genetics in Medicine. 2007, 9(2): 108-116.

  21. S Tompson, V Ruiz-Perez, H Blair; S Barton, V Navarro, J Robson, M Wright; J Goodship. Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Human Genetics. 2007; 1205): 663-670.

  22. J Cotignola, B Reva, N Mitra, N Ishill, S Chuai, A Patel , S Shah , G Vanderbeek , D Coit , K Busam , A Halpern , A Houghton , C Sander , M Berwick , I Orlow. Matrix Metalloproteinase-9 (MMP-9) polymorphisms in patients with cutaneous malignant melanoma. BMC Medical Genetics. 2007, 8(1): 10.

  23. Catherine Heddle and Sabine L. Mazaleyrat. Development of a screening platform for directed evolution using the reef coral fluorescent protein ZsGreen as a solubility reporter. Protein Engineering, Design and Selection. 2007, June.

  24. Vivek Yellore, Jeanette Papp, Eric Sobel, Ali Khan, Sylvia Rayner, Debora Farber, Anthony Aldave. Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. Genetics in Medicine. 2007, 9(4):228-234.

  25. Marjo van Puijenbroek, Maartje Nielsen, Tjitske H. C. M. Reinards, Marjan M. Weiss, Anja Wagner, Yvonne M. C. Hendriks, Hans F. A. Vasen, Carli M. J. Tops, Juul Wijnen, Tom van Wezel, Frederik J. Hes and Hans Morreau. The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family. Familial Cancer, 2007, 6(1): 43-51.

  26. Ilir Agalliu, Erika M. Kwon, Daniel Zadory, Laura McIntosh, Joseph Thompson, Janet L. Stanford and Elaine A. Ostrander. Germline Mutations in the BRCA2 Gene and Susceptibility to Hereditary Prostate Cancer. Clinical Cancer Research, 2007, 13: 839-843.

  27. Ken Chen, Michael D. McLellan, Li Ding, Michael C. Wendl, Yumi Kasai, Richard K. Wilson, and Elaine R. Mardis. PolyScan: An automatic indel and SNP detection approach to the analysis of human resequencing data. Genome Research. 2007, 17: 659-666.

  28. AJ Aldave,VS Yellore, N Bourla, RS Momi, MA Khan, AK Salem, SA Rayner, BJ Glasgow, I Kurtz. Autosomal Recessive CHED Associated With Novel Compound Heterozygous Mutations in SLC4A11. Cornea. 2007, 26(7): 896-900.

  29. Andrew Orr, Marie-Pierre Dubé, Julien Marcadier, Haiyan Jiang, Antonio Federico, Stanley George, Christopher Seamone, David Andrews, Paul Dubord, Simon Holland, Sylvie Provost, Vanessa Mongrain, Susan Evans, Brent Higgins, Sharen Bowman, Duane Guernsey, and Mark Samuels. Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy. PLoS ONE. 2007; 2(8): e685.

  30. Suzanne E. Little, Dorine A. Bax, Maria Rodriguez-Pinilla, Rachael Natrajan, Boo Messahel, Kathy Pritchard-Jones, Gordan M. Vujanic, Jorge S. Reis-Filho and Chris Jones. Multifaceted Dysregulation of the Epidermal Growth Factor Receptor Pathway in Clear Cell Sarcoma of the Kidney. Clinical Cancer Research, 2007, 13: 4360-4364.

  31. April D. Harlin-Cognato, Tim Markowitz, Bernd Würsig, and Rodney L. Honeycutt. Multi-locus phylogeography of the dusky dolphin (Lagenorhynchus obscurus): passive dispersal via the westwind drift or response to prey species and climate change? BMC Evolutionary Biology, 2007, 7:131.

  32. A Bardelli, W Parsons, V Velculescu, K Kinzler, B. Vogelstein. Tyrosine kinome. United States Patent 20070037150.

  33. R. Singh, E. R. Pearson, P. M. Clark and A. T. Hattersley. The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations. Diabetologia, 2007, 50(3): 620-624.

  34. GAN Hai-Yun, LI Jian-Bin, WANG Hong-Mei, GAO Yun-Dong, LIU Wen-Hao. Relationship between the melanocortin receptor 1 (MC1R) gene and the coat color phenotype in cattle. HEREDITAS (Beijing), 2007, 29(2): 195-200.

  35. Yuan Ji, Irene Moon, Jelena Zlatkovic, Oreste E. Salavaggione, Bianca A. Thomae, Bruce W. Eckloff, Eric D. Wieben, Daniel J. Schaid, and Richard M. Weinshilboum. Human Hydroxysteroid Sulfotransferase SULT2B1 Pharmacogenomics: Gene Sequence Variation and Functional Genomics. J. Pharmacol. Exp. Ther., 2007, 322: 529 - 540.

  36. Charles W. Ross, Peter D. Ouillette, Chris M. Saddler, Kerby A. Shedden, and Sami N. Malek. Comprehensive Analysis of Copy Number and Allele Status. Identifies Multiple Chromosome Defects Underlying Follicular Lymphoma Pathogenesis. Clin. Cancer Res., 2007, 13: 4777 - 4785.

  37. Vivianna M. Van Deerlin, Elisabeth McCarty Wood, Peachie Moore, Wuxing Yuan, Mark S. Forman, Christopher M. Clark, Manuela Neumann, Linda K. Kwong, John Q. Trojanowski, Virginia M.-Y. Lee, and Murray Grossman. Clinical, Genetic, and Pathologic Characteristics of Patients with Frontotemporal Dementia and Progranulin Mutations. Arch Neurol, 2007; 64: 1148 - 1153.

  38. E. Dicks, J. W. Teague, P. Stephens, K. Raine, A. Yates, C. Mattocks, P. Tarpey, A. Butler, A. Menzies, D. Richardson, A. Jenkinson, H. Davies, S. Edkins, S. Forbes, K. Gray, C. Greenman, R. Shepherd, M. R. Stratton, P. A. Futreal, and R. Wooster. AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes. Bioinformatics, 2007, 23: 1689 - 1691.

  39. Ahmet Dursun, Hatice Gul Gurakbasi-Dursun, Ayse Gul Zamani, ZerrinGulin Gulbahar, Recep Dursun, and Cengiz Yakicer. Genetic Analysis of MEFV Gene Pyrin Domain in Patients with Behcet's Disease. Mediators of Inflammation, 2006, Article ID 41783, Pages 1-4.

  40. Ann-Charlotte Ronn. Analysis of Nucleotide Variations in Non-human Primates, Doctoral thesis. Uppsala University. 2007.

  41. Sarah E. Flanagan, Ann-Marie Patch, Deborah J.G. Mackay, Emma L. Edghill, Anna L. Gloyn, David Robinson, Julian P.H. Shield, Karen Temple, Sian Ellard, and Andrew T. Hattersley. Mutations in ATP-Sensitive K+ Channel Genes Cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood. Diabetes, 2007; 56: 1930 - 1937.

  42. Robert L. Hanson, David W. Craig, Meredith P. Millis, Kimberly A. Yeatts, Sayuko Kobes, John V. Pearson, Anne M. Lee, William C. Knowler, Robert G. Nelson, and Johanna K. Wolford. Identification of PVT1 as a Candidate Gene for End-Stage Renal Disease in Type 2 Diabetes Using a Pooling-Based Genome-Wide Single Nucleotide Polymorphism Association Study. Diabetes, 2007; 56: 975 - 983.

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2006

  1. Tobias Sjöblom, Siân Jones, Laura D. Wood, D. Williams Parsons, Jimmy Lin, Thomas Barber, Diana Mandelker, Rebecca J. Leary, Janine Ptak, Natalie Silliman, Steve Szabo, Phillip Buckhaults, Christopher Farrell, Paul Meeh, Sanford D. Markowitz, Joseph Willis, Dawn Dawson, James K. V. Willson, Adi F. Gazdar, James Hartigan, Leo Wu, Changsheng Liu, Giovanni Parmigiani, Ben Ho Park, Kurtis E. Bachman, Nickolas Papadopoulos, Bert Vogelstein, Kenneth W. Kinzler, Victor E. Velculescu. The Consensus coding sequences of human breast and colorectal cancers. Science, 2006, 314: 268-274.

  2. Jocelyn Kaiser, CANCER: First pass at cancer genome reveals complex landscape. Science, 2006, 313: 1370

  3. Nelly Pitteloud, James S. Acierno, Jr., Astrid Meysing, Anna V. Eliseenkova, Jinghong Ma, Omar A. Ibrahimi, Daniel L. Metzger, Frances J. Hayes, Andrew A. Dwyer, Virginia A. Hughes, Maria Yialamas, Janet E. Hall, Ellen Grant, Moosa Mohammadi, and William F. Crowley, Jr.. Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. Proceedings of the National Academy of Sciences. 2006, 103(16): 6281-6286.

  4. Jeffrey C.Lee, Igor Vivanco, Rameen Beroukhim, Julie H. Y. Huang, Whei L. Feng, Ralph M. DeBiasi, Koji Yoshimoto, Jennifer C. King, Phioanh Nghiemphu, Yuki Yuza, Qing Xu, Heidi Greulich, Roman K. Thomas, J. Guillermo Paez, Timothy C. Peck, David J. Linhart, Karen A. Glatt, Gad Getz, Robert Onofrio, Liuda Ziaugra, Ross L. Levine, Stacey Gabriel, Tomohiro Kawaguchi, Keith O'Neill, Haumith Khan, Linda M. Liau, Stanley F. Nelson, P. Nagesh Rao, Paul Mischel, Russell O. Pieper, Tim Cloughesy, Daniel J. Leahy, William R. Sellers, Charles L. Sawyers, Matthew Meyerson, Ingo K. Mellinghoff. Epidermal growth factor receptor activation in glioblastoma through novel Missense Mutations in the extracellular domain, PLoS Med .2006,3(12): e485 doi:10.1371/journal.pmed.0030485

  5. Matthew Stephens, James S Sloan, P D Robertson, Paul Scheet , Deborah A Nickerson, Automating sequence-based detection and genotyping of SNPs from diploid samples. Nature Genetics ,2006,38, 375 - 381,

  6. Tushar R Bhangale Matthew Stephens & Deborah A Nickerson, Automating resequencing-based detection of insertion-deletion polymorphisms, Nature Genetics,2006, 38: 1457 - 1462

  7. Sellick GS, Catovsky D, Houlston RS. Relationship between ARLTS1 polymorphisms and risk of chronic lymphocytic leukemia. Leukemia Research, 2006, 30(12):1573-1576.

  8. Yana Pikman, Benjamin H. Lee, Thomas Mercher, Elizabeth McDowell, Benjamin L. Ebert , Maricel Gozo, Adam Cuker, Gerlinde Wernig, Sandra Moore, Ilene Galinsky, Daniel J. DeAngelo, Jennifer J. Clark, Stephanie J. Lee, Todd R. Golub , Martha Wadleigh, D. Gary Gilliland , Ross L. Levine. MPLW515L Is a novel somatic activating mutation in Myelofibrosis with Myeloid Metaplasia. PLoS Med, 2006,3(7): e270

  9. Heather A. Bradeen, Christopher A. Eide, Thomas O'Hare, Kara J. Johnson, Stephanie G. Willis, Francis Y. Lee, Brian J. Druker, and Michael W. Deininger. Comparison of imatinib mesylate, dasatinib (BMS-354825), and nilotinib (AMN107) in an N-ethyl-N-nitrosourea (ENU)-based mutagenesis screen: high efficacy of drug combinations. Blood, 2006, Vol. 108(7):2332-2338

  10. Brian I. Rini, Erich Jaeger, Vivian Weinberg, Nancy Sein, Karen Chew, Kristen Fong, Jeffery Simko, Eric J. Small, Frederic M. Waldman. Clinical response to therapy targeted at vascular endothelial growth factor in metastatic renal cell carcinoma: impact of patient characteristics and Von Hippel-Lindau gene status. BJU International, 2006, 98(4): 756-762,

  11. Stefan Heinen , Pilar Sanchez-Corral , Michael S Jackson , Lisa Strain , Judith A. Goodship , Elizabeth J. Kemp , Christine Skerka , T. Sakari Jokiranta , Kevin Meyers , Eric Wagner , Pierre Robitaille , Jorge Esparza-Gordillo , Santiago Rodriguez de Cordoba , Peter F. Zipfel , Timothy H.J. Goodship. De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. s, 2006, 27(3): 292 - 293.

  12. Robert E. Pyatt, Robert Pilarski and Thomas W. Prior . Mutation screening in juvenile polyposis syndrome. The Journal of Molecular Diagnostics,2006, 8(1) :84

  13. Anca Sterian, Takatsugu Kan, Agnes T. Berki, Yuriko Mori, Andreea Olaru, Karsten Schulmann, Fumiaki Sato, Suna Wang, Bogdan Paun, Kun Cai, James P. Hamilton, John M. Abraham, Stephen J. Meltzer. Mutational and LOH analyses of the chromosome 4q region in esophageal adenocarcinoma. Oncology, 2006, 70(3): 168-172.

  14. Benjamin Liou, Andrzej Kazimierczuk, Min Zhang, C. Ronald Scott, Rashmi S. Hegde, and Gregory A. Grabowski. Analyses of Variant Acid -Glucosidases EFFECTS OF GAUCHER DISEASE MUTATIONS. J. Biol. Chem., 2006, 281(7): 4242-4253.

  15. Anthony J. Aldave, Sylvia A. Rayner, Andrew K. Salem, Gina L. Yoo, Brian T. Kim, Monika Saeedian, Baris Sonmez, and Vivek S. Yellore. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial fuchs corneal dystrophy. Investigative Ophthalmology and Visual Science. 2006,47:3787-3790

  16. Joyce Y Tung, Mitchell P Rosen, Lawrence M Nelson, Paul J Turek, John S Witte, Daniel W Cramer,Marcelle I Cedars, and Renee A Reijo-Pera. Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men. Reprod Biol Endocrinol. 2006, 4: 40.

  17. J R Jass, K Baker, I Zlobec, T Higuchi, M Barker, D Buchanan, J Young. Advanced colorectal polyps with the molecular and morphological features of serrated polyps and adenomas: concept of a 'fusion' pathway to colorectal cancer. Histopathology, 2006, 49( 2) :121-131.

  18. Fiamma Buttitta , Lara Felicioni , Fabio Barassi , Carla Martella, Diego Paolizzi, Giuseppina Fresu, Simona Salvatore, Franco Cuccurullo, Andrea Mezzetti, Daniela Campani, Antonio Marchetti. PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma. The Journal of Pathology, 2006, 208(3): 350 - 355.

  19. Pitteloud N, Meysing A, Quinton R, Acierno JS Jr, Dwyer AA, Plummer L, Fliers E, Boepple P, Hayes F, Seminara S, Hughes VA, Ma J, Bouloux P, Mohammadi M, Crowley WF Jr. Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. Molecular and Cellular Endocrinology, 2006, 254-255: 60-9.

  20. D. Walters, V. Goss, E. Stoffregen, T. Gu, K. Lee, J. Nardone, L. McGreevey, M. Heinrich, M. Deininger, R. Polakiewicz. Phosphoproteomic analysis of AML cell lines identifies leukemic oncogenes. Leukemia Research, 2006, 30 (9): 1097-1104.

  21. T. Tengs, J. Lee, J. Guillermo Paez, X. Zhao, T. LaFramboise, G. Giannoukos, R. Thomas. A transforming MET mutation discovered in non-small cell lung cancer using microarray-based resequencing. Cancer Letters, 2006, 239(2): 227-233.

  22. Douglas R Fullen, Jenny N Poynter, Lori Lowe, Lyndon D Su, James T Elder, Rajan P Nai, Timothy M Johnson and Stephen B Gruber. BRAF and NRAS mutations in spitzoid melanocytic lesions. Modern Pathology, 2006, 19: 1324-1332.

  23. Lecia V. Sequist, Victoria A. Joshi, Pasi A. Jänne, Daphne W. Bell, Panos Fidias, Neal I. Lindeman, David N. Louis, Jeffrey C. Lee, Eugene J. Mark, Janina Longtine, Peter Verlander, Raju Kucherlapati, Matthew Meyerson, Daniel A. Haber, Bruce E. Johnsonand Thomas J. Lynch. Epidermal Growth Factor Receptor Mutation Testing in the Care of Lung Cancer Patients. Clinical Cancer Research, 2006, 12:4403-4408.

  24. TuDung T. Nguyen, Lisa N. Ma, Marilyn L. Slovak, Charles D. Bangs, Athena M. Cherry, Daniel A. Arber. Identification of novel Runx1 (AML1) translocation partner genes SH3D19, YTHDf2, and ZNF687 in acute myeloid leukemia. Genes, Chromosomes and Cancer, 2006, 45(10): 918-32

  25. Joyce Y. Tung, Mitchell P. Rosen, Lawrence M. Nelson, Paul J. Turek, John S. Witte, Daniel W. Cramer, Marcelle I. Cedars and Renee A. Reijo Pera. Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women. Human Genetics, 2006, 118( 6 ).

  26. Alfirevic, Ana; Mills, Tracy; Harrington, Pauline; Pinel, Tracy; Sherwood, James; Jawaid, Ansar; Smith, John C; March, Ruth E.; Barratt, Bryan J; Chadwick, David W.; Kevin Park,Pirmohamed, Munir. Serious carbamazepine-induced hypersensitivity reactions associated with the HSP70 gene cluster. Pharmacogenetics & Genomics, 2006, 16(4): 287-296.

  27. K A White, E M Lange, A M Ray, K J Wojno, K A Cooney. Prohibitin mutations are uncommon in prostate cancer families linked to chromosome 17q. Prostate Cancer and Prostatic Diseases, 2006, 9: 298-302.

  28. Gary L. Gallia, Vikki Rand, I-Mei Siu, Charles G. Eberhart, C. David James, Suely K.N. Marie, Sueli M. Oba-Shinjo, Carlos G. Carlotti, Otavia L. Caballero, Andrew J.G. Simpson, Malcolm V. Brock, Pierre P. Massion, Benjamin S. Carson, Sr. ,Gregory J. Riggins. PIK3CA Gene Mutations in pediatric and adult glioblastoma multiforme. Molecular Cancer Research, 2006, 4:709-714.

  29. Hania Wehbe, Roger Henson, Molly Lang, Fanyin Meng, and Tushar Patel. Pifithrin-a enhances chemosensitivity by a p38 Mitogen-Activated protein kinase-dependent modulation of the eukaryotic Initiation factor 4E in malignant cholangiocytes. Journal of Pharmacology And Experimental Therapeutics, 2006, 319:1153-1161.

  30. Amy E Roberts, Toshiyuki Araki, Kenneth D Swanson, Kate T Montgomery, Taryn A Schiripo, Victoria A Joshi, Li Li, Yosuf Yassin, Alex M Tamburino, Benjamin G Neel & Raju S Kucherlapati. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nature Genetics. 2006, 39:70 - 74.

  31. Yanick J Crow, Andrea Leitch, Bruce E Hayward, Anna Garner, Rekha Parmar, Elen Griffith, Manir Ali, Colin Semple, Jean Aicardi, Riyana Babul-Hirji, Clarisse Baumann, Peter Baxter, Enrico Bertini, Kate E Chandler, David Chitayat, Daniel Cau, Catherine Déry, Elisa Fazzi, Cyril Goizet, Mary D King, Joerg Klepper, Didier Lacombe, Giovanni Lanzi, Hermione Lyall, María Luisa Martínez-Frías, Michèle Mathieu, Carole McKeown, Anne Monier, Yvette Oade, Oliver W Quarrell, Christopher D Rittey, R Curtis Rogers, Amparo Sanchis, John B P Stephenson, Uta Tacke, Marianne Till, John L Tolmie, Pam Tomlin, Thomas Voit, Bernhard Weschke, C Geoffrey Woods, Pierre Lebon, David T Bonthron, Chris P Ponting & Andrew P Jackson. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nature Genetics. 2006, 38:910 - 916.

  32. Simon J. Patton, Andrew J. Wallace,Rob Elles. Benchmark for evaluating the quality of DNA sequencing: proposal from an International external quality assessment scheme. Clinical Chemistry. 2006, 52:728-736.

  33. Qing Song, John W. Cole, Jeffrey R. O'Connell, Oscar C. Stine, Margaret Gallagher, Wayne H. Giles, Braxton D. Mitchell, Marcella A. Wozniak, Barney J. Stern, John D. Sorkin, Patrick F. McArdle, Adam C. Naj, Qin Xu, Gary H. Gibbons and Steven J. Kittner. Phosphodiesterase 4D polymorphisms and the risk of cerebral infarction in a biracial population: the Stroke Prevention in Young Women Study. Human Molecular Genetics. 2006, 15(16):2468-2478.

  34. D. Walters, T. Mercher, T. Gu, T. O'Hare, J. Tyner, M. Loriaux, V. Goss, K. Lee, C. Eide, M. Wong. Activating alleles of JAK3 in acute megakaryoblastic leukemia. Cancer Cell. 2006, 10(1): 65-75.

  35. Fakhrai-Rad Hossein, Eberle James,Zheng Jianbiao,Willis Thomas,Wong Kee,Suyenaga Kent,Moorehead Martin. Identification of rare alleles by enzymatic enrichment of mismatched heteroduplexes. United States Patent. 2006 01:60-102.

  36. Bell Daphne Winifred, Haber Daniel A.,Janne Pasi Antero,Johnson Bruce E.,Lynch Thomas J.,Meyerson Matthew,Paez Juan Guillermo,Sellers William R.,Settleman Jeffrey E.,Sordella Raffaella. Method to determine responsiveness of cancer to epidermal growth factor receptor targeting treatments. United States Patent. 2006 June 7.

  37. Qingwei Wang, Steven C. Hunt, Qin Xu, Yuqing E. Chen, Michael A. Province, John H. Eckfeldt, James S. Pankow, Qing Song. Association study of CRP gene polymorphisms with serum CRP level and cardiovascular risk in the NHLBI family heart study. Am J Physiol Heart Circ Physiol. 2006, 291: H2752-H2757.

  38. Patrick C Ma, X Zhang,Z J Wang. High-throughput mutational analysis of the human cancer genome. Pharmacogenomics. 2006; 7(4): 597-612.

  39. Hall, Marla Dale. Genetic characterization and utilization of multiple Aegilops tauschii derived pest resistance genes in wheat. Kansas State University Doctoral dissertation, 2006 Aug.

  40. Charles A. Kroll, Matt J. Ferber, Brian D. Dawson, Robert M. Jacobson, Kara A. Mensink, Fred Lorey, John Sherwin, George Cunningham, Piero Rinaldo, Dietrich Matern, and Si Houn Hahn. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Molecular Genetics and Metabolism. 2006, 89( 1-2):134-138,

  41. Jennifer O'Neil, Jennifer Calvo, Keith McKenna, Veena Krishnamoorthy, Jon C. Aster, Craig H. Bassing, Frederick W. Alt, Michelle,Kelliher, and A. Thomas Look. Activating Notch1 mutations in mouse models of T-ALL. Blood, 2006; 107(2):781-785.

  42. Y. Terai, M. Sugita, M. Ueda, M. Ueki, L. Bemis, J. Haney and W. A. Franklin. Somatic mutation in the EGFR gene in ovarian carcinoma detected by SSCP and direct sequencing. Journal of Clinical Oncology, 2006 ASCO Annual Meeting Proceedings. 2006, 24(18S): 5063.

  43. Ogechi N. Ikediobi, Helen Davies, Graham Bignell, Sarah Edkins, Claire Stevens, Sarah O'Meara, Thomas Santarius, Tim Avis, Syd Barthorpe, Lisa Brackenbury, Gemma Buck, Adam Butler, Jody Clements, Jennifer Cole, Ed Dicks, Simon Forbes, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills, Jonathan Hinton, Chris Hunter, Andy Jenkinson, David Jones, Vivienne Kosmidou, Richard Lugg, Andrew Menzies, Tatiana Mironenko, Adrian Parker, Janet Perry, Keiran Raine, David Richardson, Rebecca Shepherd, Alex Small, Raffaella Smith, Helen Solomon, Philip Stephens, Jon Teague, Calli Tofts, Jennifer Varian, Tony Webb, Sofie West, Sara Widaa, Andy Yates, William Reinhold, John N. Weinstein, Michael R. Stratton, P. Andrew Futreal and Richard Wooster. Mutation analysis of 24 known cancer genes in the NCI-60 cell line set. Mol Cancer Ther. 2006, 5:2606-2612.

  44. Carmel McConville, Sarah Reid, Linda Baskcomb, Jenny Douglas , Nazneen Rahman. PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. American Journal of Medical Genetics Part A,2006; 140A(12) : 1297 - 1301.

  45. Amy J. Clark, Efraim H. Rosenberg, Ligia S. Almeida, Tim C. Wood, Cornelis Jakobs, Roger E. Stevenson, Charles E. Schwartz and Gajja S. Salomons. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology . Human Genetics, 2006, 119( 6): 604-610.

  46. Patrick Y. Wen, W.K. Alfred Yung, Kathleen R. Lamborn, Patricia L. Dahia, Yanfeng Wang, Bin Peng, Lauren E. Abrey, Jeffrey Raizer, Timothy F. Cloughesy, Karen Fink, Mark Gilbert, Susan Chang, Larry Junck, David Schiff, Frank Lieberman, Howard A. Fine, Minesh Mehta, H. Ian Robins, Lisa M. DeAngelis, Morris D. Groves, Vinay K. Puduvalli, Victor Levin, Charles Conrad, Elizabeth A. Maher, Kenneth Aldape, Michael Hayes, Laurie Letvak, Merrill J. Egorin, Renaud Capdeville, Richard Kaplan, Anthony J. Murgo, Charles Stiles and Michael D. Prados. Phase I/II study of imatinib mesylate for recurrent malignant gliomas: North American brain tumor consortium study 99-08. Clinical Cancer Research. 2006, 12: 4899-4907

  47. Poynter, J. N. Elder, J. T. Fullen, D. R. Nair, R. P. Soengas, M. S. Johnson, T. M. Redman, B. Thomas, N. E. Gruber, S. B., BRAF and NRAS mutations in melanoma and melanocytic nevi, Melanoma Research. 2006, 16(4): 267-273.

  48. LESCHZINER Guy, ZABANEH Delilah, PIRMOHAMED M., OWEN Andrew, ROGERS Jane, COFFEY Alison J., BALDING David J, BENTLEY David B, JOHNSON Michael R.. Exon sequencing and high resolution haplotype analysis of ABC transporter genes implicated in drug resistance, Pharmacogenetics and genomics, 2006, 16(6): 439-450.

  49. Kentaro Nakayama, Naomi Nakayama, Ben Davidson, Hidetake Katabuchi, Robert J. Kurman, Victor E. Velculescu, Ie-Ming Shih, Tian-Li Wang. Homozygous deletion of MKK4 in ovarian serous carcinoma. Cancer Biology & Therapy, 2006, 5(6): 630-4.

  50. Jenny N. Poynter, Kathleen A. Cooney, Joseph D. Bonner, Kirsten A. White, Lynn P. Tomsho, Gad Rennert, and Stephen B. Bruber. APC I1307K and the risk of prostate cancer. Cancer Epidemiol Biomarkers Prev 2006, 15(3): 468-473.

  51. Pasi A. Jänne, Ana M. Borras, Yanan Kuang, Andrew M. Rogers, Victoria A. Joshi, Hema Liyanage, Neal Lindeman, Jeffrey C. Lee, Balazs Halmos, Elizabeth A. Maher, Robert J. Distel, Matthew Meyerson and Bruce E. Johnson, A Rapid and Sensitive Enzymatic Method for Epidermal Growth Factor Receptor Mutation Screening. Clinical Cancer Research, 2006, 12, 751-758.

  52. Laura D. Wood, Eric S. Calhoun, Natalie Silliman, Janine Ptak, Steve Szabo, Steve M. Powell, Gregory J. Riggins, Tian-Li Wang, Hai Yan, Adi Gazdar, Scott E. Kern, Len Pennacchio, Kenneth W. Kinzler, Bert Vogelstein, Victor E. Velculescu. Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers. Human Mutation, 2006, 27(10), 1060 - 1061.

  53. Judith A. Gilbert, Oreste E. Salavaggione, Yuan Ji, Linda L. Pelleymounter, Bruce W. Eckloff, Eric D. Wieben, Matthew M. Ames and Richard M. Weinshilboum. Gemcitabine Pharmacogenomics: Cytidine Deaminase and Deoxycytidylate Deaminase Gene Resequencing and Functional Genomics. Clinical Cancer Research, 2006, 12, 1794-1803.

  54. H Fakhrai-Rad, J Eberle, J Zheng, T Willis, K Wong, etc. Identification of rare alleles by enzymatic enrichment of mismatched heteroduplexes. United States Patent 20060160102.

  55. K Code, SJ Kittner, Q Song, BD Mitchell, etc. Single nucleotide polymorphism associated with stroke susceptibility. United States Patent 20070099223.

  56. DW Bell, DA Haber, PA Janne, BE Johnson, TJ Lynch, etc.. Method to determine responsiveness of cancer to epidermal growth factor receptor targeting treatments. United States Patent 20060147959.

  57. Timothy H.J. Goodship, Véronique Frémeaux-Bacchi and John P. Atkinson. Genetic testing in atypical HUS and the role of membrane cofactor protein (MCP; CD46) and Factor I. Complement and Kidney Disease. Birkhäuser Basel. 2006. ISBN 978-3-7643-7166-1. Page 111-127.

  58. Ian J. Griswold, Mary MacPartlin, Thomas Bumm, Valerie L. Goss, Thomas O'Hare, Kimberly A. Lee, Amie S. Corbin, Eric P. Stoffregen, Caitlyn Smith, Kara Johnson, Erika M. Moseson, Lisa J. Wood, Roberto D. Polakiewicz, Brian J. Druker, and Michael W. Deininger. Kinase Domain Mutants of Bcr-Abl Exhibit Altered Transformation Potency, Kinase Activity, and Substrate Utilization, Irrespective of Sensitivity to Imatinib. Mol. Cell. Biol. 2006, 26 (16), 6082.

  59. Laura Pasqualucci, Mara Compagno, Jane Houldsworth, Stefano Monti, Adina Grunn, Subhadra V. Nandula, Jon C. Aster, Vundavally V. Murty, Margaret A. Shipp, and Riccardo Dalla-Favera. Inactivation of the PRDM1/BLIMP1 gene in diffuse large B cell lymphoma. J. Exp. Med. 2006, 203 (2), 311.

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2005

  1. Jonathan L. Haines, Michael A. Hauser, Silke Schmidt, William K. Scott, Lana M. Olson, Paul Gallins, Kylee L. Spencer, Shu Ying Kwan, Maher Noureddine, John R. Gilbert, Nathalie Schnetz-Boutaud, Anita Agarwal, Eric A. Postel, Margaret A. Pericak-Vance. Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration. Science, 2005, 308(5720), 419 - 421.

  2. Haiying Meng, Shelley D. Smith, Karl Hager, Matthew Held, Jonathan Liu, Richard K. Olson, Bruce F. Pennington, John C. DeFries, Joel Gelernter, Thomas O'Reilly-Pol, Stefan Somlo, Pawel Skudlarski, Sally E. Shaywitz, Bennett A. Shaywitz, Karen Marchione, Yu Wang, Murugan Paramasivam, Joseph J. LoTurco, Grier P. Page and Jeffrey R. Gruen. DCDC2 is associated with reading disability and modulates neuronal development in the brain, Proceedings of National Academy of Sciences, 2005, 102(47): 17053-17058.

  3. Anthony J. Aldave, Vivek S. Yallore, Alexandxre H. Principe, Gelareh Abedi, Kevin Merrill, Meenal Cahlukya, Kent W. Small, Nitin Udar. Candidate gene screening for posterior polymorphous dystrophy. Cornea, 2005, 24(2): 151-155

  4. R.E. Amir, P. Fang, Z. Yu, D.G. Glaze, A.K. Percy, H.Y. Zoghbi, B.B. Roa, I.B. Van den Veyver. Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. Journal of Medical Genetics, 2005, 42:e15.

  5. Antonio Marchetti, Carla Martella, Lara Felicioni, Fabio Barassi, Simona Salvatore, Antonio Chella,Pier P. Camplese, Teodorico Iarussi, Felice Mucilli, Andrea Mezzetti, Franco Cuccurullo,Rocco Sacco,and Fiamma Buttitta, EGFR mutations in non-small-cell lung cancer: analysis of a large series of cases and development of a rapid and sensitive method for diagnostic screening with potential implications on pharmacologic treatment. Journal of Clinical Oncology, 2005, 23(4), 857-865.

  6. Vivek S. Yellore, Sylvia A. Rayner, Leslie Emmert-Buck, Geoffrey C. Tabin, Irving Raber, Sadeer B. Hannush, R. Doyle Stulting, Kapil Sampat, Rominder Momi, Alexandre H. Principe, and Anthony J. Aldave, No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. Investigative Ophthalmology and Visual Science. 2005, 46:1599-1603.

  7. Anthony J. Aldave, Sylvia A. Rayner, Alexandre H. Principe, John A. Affeldt,Douglas Katsev,Vivek S.Yellore, Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy, Molecular Vision, 2005; 11:713-6

  8. Sherif Z. Abdel-Rahman, Marinel M. Ammenheuser, Curtis J. Omiecinski, Jeffrey K. Wickliffe, Judah I. Rosenblatt,and Jonathan B. Ward, Jr., Variability in human sensitivity to 1,3-butadiene: influence of polymorphisms in the 5#-flanking region of the microsomal epoxide hydrolase gene (EPHX1). Toxicological Sciences, 2005, 85: 624-631.

  9. Nicholas CM Hearle,Ian Tomlinson, Wendy Lim,Victoria Murday, Edwin Swarbrick, Guan Lim, Robin Phillips, Peter Lee, John O'Donohue, Richard C Trembath, Patrick J Morrison, Andrew Norman, Rohan Taylor, Shirley Hodgson, Anneke Lucassen and Richard S Houlston, Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome, BMC Genomics, 2005, 6: 38.

  10. Hsiao-Yuan Tang, Anping Xia, John S Oghalai, Fred A Pereira and Raye L Alford, High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss, BMC Medical Genetics, 2005, 6: 30.

  11. Maria Teresa Landi, Peter A. Kanetsky, Shirley Tsang, Bert Gold, David Munroe, Timothy Rebbeck, Jennifer Swoyer, Monica Ter-Minassian, Mohammad Hedayati, Lawrence Grossman, Alisa M. Goldstein, Donato Galista, Ruth M. Pfeiffer. MC1R, ASIP, and DNA repair in sporadic and familial melanoma in Mediterranian population. Journal of the National Cancer Institute, 2005, 97(13): 998-1007.

  12. Edgar A. Otto, Bzart Loeys, Hemant Kanna, Jan Hellemans, Ralf Sudbrak, Shuling Fan, Ulla Muerb, John F O¡¯Toole, Juliana Helou, Massimo Attanasio, Boris Utsch, John A Sayer, Concepcion Lillo, David Jimeno, Paul Coucke, Anne De Paepe, Richard Beinhardt, Sven Klages, Motoyuki Tsuda, Isao Kawakami, Takehiro Kusakabe, Heymut Omran, Anita Imm, Melissa Tippens, Pamela A Raymond, Jo Hill, Phil Beales, Shirley He, Andreas Kispert, Benjamin Margolis, David S Williams, Anand Swaroop and Friedhelm Hildebrandt. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Lorken syndrome and intereacts with RPGR and calmodulin. Nature Genetics, 2005, 37(3):

  13. Byeongwoon Song, Bert Gold, Colm O'hUigin, Hassan Javanbakht, Xing Li, Matthew Stremlau, Cheryl Winkler, Michael Dean, and Joseph Sodroski1. The B30.2(SPRY) domain of the retroviral restriction factor TRIM5 exhibits lineage-specific length and sequence variation in primates. Journal of Virology, 2005, 79(10), 6111-6121.

  14. Alisa M. Goldstein, Maria Teresa Landi, Shirley Tsang, Mary C. Fraser, David J. Munroe, and Margaret A. Tucker. Association of MC1R Variants and Risk of Melonoma in Melonoma-Prone Families with CDKN2A Mutations. Cancer Epidemiol Biomarkers Prev 2005; 14(9): 2208-2212.

  15. P. Rump, H.H. Lemmink, C.C. Verschuuren-Bemelmans, P.M. Grootscholten, J.M. Fock, S.J. Hayflick, S.K. Westaway, Y.J. Vos and A.J. Van Essen. A novel 3-bp deletion in the PANK2 gene of dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect. Neurogenetics, 2005, 6(4): 201-207.

  16. Teh-Ying Chou,Chao-Hua Chiu,Ling-Hui Li,Chun-Yen Hsiao,Chin-Yuan Tzen,Kuo-Ting Chang, Yuh-Min Chen,Reury-Perng Perng,Shih-Feng Tsai, and Chun-Ming Tsai, Mutation in the tyrosine kinase domain of epidermal growth factor receptor is a predictive and prognostic factor for Gefitinib treatment in patients with Non-Small-Cell lung cancer. Clinical Cancer Research, 2005, 11(10): 3750-3757.

  17. Weizhu Zhu, Wenyi Qin, Paul Bradley, Amy Wessel, Charles L.Puckett and Edward R.Sauter, Mitochondrial DNA mutations in breast cancer tissue and in matched nipple aspirate fluid. Carcinogenesis, 2005, 26(1): 145-152.

  18. Lori J. Wirth, Robert I. Haddad, Neal I. Lindeman, Xiaojun Zhao, Jeffrey C. Lee, Victoria A. Joshi, Charles M. Norris Jr, and Marshall R. Posner. Phase I study of Gefitinib plus Celecoxib in recurrent or metastatic squamous cell carcinoma of the head and neck. Journal of Clinical Oncology Original Report, 2005, 23(28): 6976-6981.

  19. Ross L. Levine, Marc Loriaux, Brian J.P. Huntly, Mignon L. Loh, Miroslav Beran, Eric Stoffregen, Roland Berger, Jennifer J. Clark, Stephanie G. Willis, Kim T. Nguyen, Nikki J. Flores, Elihu Estey, Norbert Gattermann, Scott Armstrong, A. Thomas Look, James D. Griffin, Oliver A. Bernard, Michael C. Heinrich, D. Gary Gilliland, Brian Druker, and Michael W.N. Deininger. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood, 2005, 106(10): 3377-3379.

  20. Esther H. Lips, Jan Wellem F. Dierssen, Ronald Van Eijk, Jan Oosting, Paul H.C. Eilers, Rob A.E.M. Tollenaar, Eelco j. De Graaf, Ruben Van¡¯t Slot, Cisca Wijmenga, Hans Morreau and Tom Van Wezel. Reliable high-throughput genotyping and loss-of heterozygosity detection in formalin-fixed, paraffin-embedded tumors using single nucleotide polymorphism arrays. Cancer Research, 2005, 65: 10188-10191.

  21. Robert R. Freimuth, Ming Xiao, Sharon Marsh, Matthew Milton, Nicholas Addleman, Derek J. Van Booven, Howard L. McLeod and Pui-Yan Kwok. Polymorphism discovery in 51 chemotherapy pathway genes. Human Molecular Genetics, 2005, 14(23): 3595-3603.

  22. E. Baxter, L. Scott, P. Campbell, C. East, N. Fourouclas, S. Swanton, G. Vassiliou, A. Bench, E. Boyd, N. Curtin. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. The Lancet, 2005, 365(9464): 1054-1061.

  23. Xiufeng Song, Jian-Hong Deng, Changsheng J. Liu and Yidong Bai. Specific point mutations may not accumulate with aging in the mouse mitochondrial DNA control region. Gene, 2005, 350(2): 193-199.

  24. Vivian Sze Wing Li, Chi Wai Wong, Tsun Leung Chan, Agnes Sze Wah Chan, Wei Zhao, Kent-Man Chu, Samuel So, Xin Chen, Siu Tsan Yuen and Suet Yi Leung. Mutations of PIK3CA in gastric adenocarcinoma. BMC Cancer 2005, 5:29.

  25. Shirley Tsang, Zhonghe Sun, Brian Luke, Claudia Stewart, Nicole Lum, Melissa Gregory, Xiaolin Wu, Marianne Subleski, Nancy A. Jenkins, Neal G. Copeland and David J. Munroe. A comprehensive SNP-based genetic analysis of inbred mouse strains. Mammalian Genome, 2005, 16(7): 476-480.

  26. Imtiaz Yakub, Kristy M. Lillibridge, Ana Moran, Omar Y. Gonzalez, John Belmont, Richard A. Gibbs, and David J. Tweardy. Single Nucleotide Polymorphisms in Genes for 2-5-Oligoadenylate Synthetase and RNase L in Patients Hospitalized with West Nile Virus Infection. The Journal of Infectious Diseases, 2005, 192: 1741-1748.

  27. Nicholas CM Hearle, Ian Tomlinson, Wendy Lim, Victoria Murday, Edwin Swarbrick, Guan Lim, Robin Phillips, Peter Lee, John O'Donohue, Richard C Trembath, Patrick J Morrison, Andrew Norman, Rohan Taylor, Shirley Hodgson, Anneke Lucassen and Richard S Houlston. Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome. BMC Genomics 2005, 6:38.

  28. Eleanor J. Davison, Patrick S. Tarpey, Heike Fiegler, Ian P. M. Tomlinson, Nigel P. Carter. Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization. Genes, Chromosomes and Cancer, 2005, 44(4): 384 - 391.

  29. Colin B. Begg, Irene Orlow, Amanda J. Hummer, Bruce K. Armstrong, Anne Kricker, Loraine D. Marrett, Robert C. Millikan, Stephen B. Gruber, Hoda Anton-Culver, Roberto Zanetti, Richard P. Gallagher, Terence Dwyer, Timothy R. Rebbeck, Nandita Mitra, Klaus Busam, Lynn From, Marianne Berwick. Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. J Natl Cancer Inst, 2005, 97(20): 1507-1515.

  30. J. Kraft, S. Slager, P. McGrath, S. Hamilton. Sequence Analysis of the Serotonin Transporter and Associations with Antidepressant Response. Biological Psychiatry, 2005, 58(5): 374-381.

  31. Ningwu Huang, Amit V. Pandey, Vishal Agrawal, William Reardon, Pablo D. Lapunzina, David Mowat, Ethylin Wang Jabs, Guy Van Vliet, Joseph Sack, Christa E. Flück, and Walter L. Miller. Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis. The American Journal of Human Genetics, 2005, 76: 729-749.

  32. Hamish S Scott. Technophiles seek genomic imperfections with the Greek gods at Atlantis. Nature Genetics, 2005, 37, 1019 - 1021.

  33. R. Levine, M. Wadleigh, J. Cools, B. Ebert, G. Wernig, B. Huntly, T. Boggon, I. Wlodarska, J. Clark, S. Moore. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell, 2005, 7(4): 387-397.

  34. Andrew Biggina, Robert Henkeb, Bruce Bennettsa, c, David R. Thorburnd, e and John Christodouloua. Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography. Molecular Genetics and Metabolism, 2005, 84(1): 61-74.

  35. Carl Manaster, Weiyue Zheng, Markus Teuber, Stefan Wächter, Frank Döring, Stefan Schreiber, Jochen Hampe. InSNP: A tool for automated detection and visualization of SNPs and InDels. Human Mutation, 2005, 26(1): 11 - 19.

  36. Neil Gibson, Ansar Jawaid, Ruth March. Novel technology and the development of pharmacogenetics within the pharmaceutical industry. Pharmacogenomics, 2005, 6(4): 339-356.

  37. X. Zhang, X. Miao, W. Tan, B. Ning, Z. Liu, Y. Hong, W. Song, Y. Guo, X. Zhang, Y. Shen. Identification of Functional Genetic Variants in and Their Association With Risk of Esophageal Cancer. Gastroenterology, 2005, 129(2): 565-576.

  38. Graham Bignell, Raffaella Smith, Chris Hunter, Philip Stephens, Helen Davies , Chris Greenman, Jon Teague, Adam Butler, Sarah Edkins, Claire Stevens, Sarah O'Meara, Adrian Parker, Tim Avis, Syd Barthorpe, Lisa Brackenbury, Gemma Buck, Jody Clements, Jennifer Cole, Ed Dicks, Ken Edwards, Simon Forbes , Matthew Gorton, Kristian Gray, Kelly Halliday, Rachel Harrison, Katy Hills , Jonathon Hinton, David Jones, Vivienne Kosmidou, Ross Laman, Richard Lugg , Andrew Menzies, Janet Perry, Robert Petty, Keiran Raine, Rebecca Shepherd, Alexandra Small, Helen Solomon, Yvonne Stephens, Calli Tofts, Jennifer Varian , Anthony Webb, Sofie West, Sara Widaa, Andy Yates, Ad J. M. Gillis, Hans J. Stoop, Ruud J. H. L. M. van Gurp , J. Wolter Oosterhuis, Leendert H. J. Looijenga, P. Andrew Futreal, Richard Wooster, Michael R. Stratton. Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adults. Genes, Chromosomes and Cancer. 2005,45(1): 42-46.

  39. 1. Nils Rostoks, Justin O Borevitz, Peter E Hedley, Joanne Russell, Sharon Mudie, Jenny Morris, Linda Cardle, David F Marshall and RobbieWaugh, Single-feature polymorphism discovery in the barley transcriptome, Genome Biology 2005, 6: R54.

  40. Graham Casey, Noralane M. Lindor, Nickolas Papadopoulos, Stephen N. Thibodeau, John Moskow, Scott Steelman, Carolyn H. Buzin, Steve S. Sommer, Christine E. Collins, Malinda Butz, Melyssa Aronson, Steven Gallinger, Melissa A. Barker, Joanne P. Young, Jeremy R. Jass, John L. Hopper, Anh Diep, Bharati Bapat, Michael Salem, Daniela Seminara, Robert Haile for the Colon Cancer Family Registry. Conversion Analysis for Mutation Detection in MLH1 and MSH2 in Patients With Colorectal Cancer. JAMA, 16, 2005; 293: 799 - 809.

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2004

  1. Paez JG, Janne PA, Lee JC, Tracy S, Greulich H, Gabriel S, Herman P, Kaye FJ, Lindeman N, Boggon TJ, Naoki K, Sasaki H, Fujii Y, Eck MJ, Sellers WR, Johnson BE, Meyerson M. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science. 2004, 304 (5676):1497-500.

  2. Wang Z, Shen D, Parsons DW, Bardelli A, Sager J, Szabo S, Ptak J, Silliman N, Peters BA, van der Heijden MS, Parmigiani G, Yan H, Wang TL, Riggins G, Powell SM, Willson JK, Markowitz S, Kinzler KW, Vogelstein B, Velculescu VE. Mutational analysis of the tyrosine phosphatome in colorectal cancers. Science. 2004, 304 (5676): 1497-1500.

  3. Yardena Samuels, Zhenghe Wang, Alberto Bardelli, Natalie Silliman, Janine Ptak, Steve Szabo, Hai Yan, Adi Gazdar, Steven M. Powell, Gregory J. Riggins, James K. V. Willson, Sanford Markowitz, Kenneth W. Kinzler, Bert Vogelstein, and Victor E. Velculescu. High frequency of mutations of the PIK3CA gene in human cancers, SCIENCE, 2004, 304(5670): 554.

  4. Rajagopalan H, Jallepalli PV, Rago C, Velculescu VE, Kinzler KW, Vogelstein B, Lengauer C. 2004. Inactivation of hCDC4 can cause chromosomal instability. Nature 2004 428 (6978):77-81.

  5. Frank Diehl, Meng Li, Devin Dressman, Yiping He, Dong Shen, Steve Szabo, Luis A. Diaz, Jr, Steven N. Goodman, Kerstin A. David, Hartmut Juhl, Kenneth W. Kinzler, and Bert Vogelstein. Detection and quantification of mutations in the plasma of patients with colorectal tumors. PNAS, 2005; 102: 16368 - 16373.

  6. Sergey Shulenin, Lawrence M. Nogee, Tarmo Annilo, Susan E. Wert, Jeffrey A. Whitsett, and Michael Dean. ABCA3 gene mutations in newborns with fatal surfactant deficiency. The New England Journal of Medicine, 2004, 350 :1296-303.

  7. Jingrui Jiang, J. Guillermo Paez, Jeffrey C, Lee, Ronghai Bo, Richard M. Stone, Daniel J.DeAngelo, Ilene Galinsky, Brian M. Wolpin, Anna Jonasova, Paula Herman, Edward A Fox, Titus J. Boggon, Michael J. Eck, Ellen Weisberg, James D Griffin, D. Gary Gilliland, Matthew Meyerson, William R. Sellers. Identification and Characterization of a Novel Activating Mutation of the FLT3 tyrosine kinase in AML. Blood, 2004, 104(6): 1855-1858.

  8. Mohamed Bentires-Alf, J. Guillermo Paez, Frank S. David, Heike Keilhack, Balazs Halmos, Katsuhiko Naoki, John M. Maris, Andrea Richardson, Alberto Bardelli, David J. Sugarbaker, William G. Richards, Jinyan Du, Luc Girard, John D. Minna, Mignon L. Loh, David E. Fisher, Victor E. Velculescu, Bert Vogelstein, Matthew Meyerson, William R. Sellers, Benjamin G. Neel. Activating mutations of the Noonan syndrome-associated SHP2/PTPNII gene in human solid tumors and adult acute myelogenous leukemia. Cancer Research, 2004, 64, 8816-8820.

  9. MT Landi, AM Goldstein, S Tsang, D. Munroe, W Modi, M Ter-Minassian, R Steighner, M Dean, N Metheny, B Staats, R Agatep, D Hogg, D Calista. Genetic susceptibility in familial melanoma from northeastern. Italy J Medical Genetics 2004: 41 557-566.

  10. Rosenberg EH. Almeida LS. Kleefstra T. deGrauw RS. Yntema HG. Bahi N. Moraine C. Ropers HH. Fryns JP. deGrauw TJ. Jakobs C. Salomons GS. High prevalence of SLC6A8 deficiency in X-linked mental retardation. American Journal of Human Genetics. 2004, 75(1): 97-105.

  11. K.E. Roberts, J.J. McElroy, W.P.K. Wong, E. Yen, A. Widlitz, R.J. Knowles, J.H. Morse. BMPR2 mutations in pulmonary arterial hypertension with congenital heart disease. European Respiratory Journal, 2004; 24: 371-374.

  12. Fabio Marroni, Paolo Aretini, Emma D¡¯Andrea, Maria Adelaide Caligo, Laura Cortesi, Alessandra Viel, Enrico Ricevuto, Marco Montagna, Giovanna Cipollini, Massimo Federico, Manuela Santarosa, Paolo Marchetti, Joan E. Bailey-Wilson, Generoso Bevilacqua, Giovanni Parmigiani and Silvano Presciuttni. Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations. European Journal of Human Genetics, 2004, 12(1): 899-906.

  13. Zhenghe Wang, Jordan M. Cummins, Dong Shen, Daniel P. Cahill, Prasad V. Jallepalli, Tian-Li Wang, D. Williams Parsons, Giovanni Traverso, Mark Awad, Natalie Silliman, Janine Ptak, Steve Szabo, James K. V. Willson, Sanford D. Markowitz, Michael L. Goldberg, Roger Karess, Kenneth W. Kinzler, Bert Vogelstein, Victor E. Velculescu and Christoph Lengauer. Three classes of genes mutated in colorectal cancers with chromosomal instability. Cancer Research 2004, 64: 2998-3001.

  14. S. H. Korman, G. S. Salomons, A. Gutman, R. Brooks, C. Jakobs. D-2-Hydroxyglutaric Aciduria and Glutaric Aciduria Type 1 in Siblings: Coincidence, or Linked Disorders? Neuropediatrics 2004; 35: 151-156.

  15. M T Landi, A M Goldstein, S Tsang, D Munroe, W Modi, M Ter-Minassian, R Steighner, M Dean, N Metheny, B Staats, R Agatep, D Hogg and D Calista. Genetic susceptibility in familial melanoma from northeastern Italy. Journal of Medical Genetics 2004;41:557-566.

  16. Kimberly A. Zuhlke, Jennifer J. Madeoy, Jennifer Beebe-Dimmer, Kirsten A. White, Angela Griffin, Ethan M. Lange, Stephen B. Gruber, Elaine A. Ostrander and Kathleen A. Cooney. Truncating BRCA1 Mutations Are Uncommon in a Cohort of Hereditary Prostate Cancer Families with Evidence of Linkage to 17q Markers. Clinical Cancer Research 2004, 10: 5975-5980.

  17. Sharon Marsha, Ming Xiao, Jinsheng Yu, Ranjeet Ahluwalia, Matthew Minton, Robert R. Freimuth Pui-Yan Kwok and Howard L. McLeod. Pharmacogenomic assessment of carboxylesterases 1 and 2. Genomics, 2004, 84(4): 661-668.

  18. H. Robert Bergen, III, Steven R. Zeldenrust, Malinda L. Butz, Denise S. Snow, Peter J. Dyck, P. James B. Dyck, Christopher J. Klein, John F. O'Brien, Stephen N. Thibodeau,a and David C. Muddiman. Identification of Transthyretin Variants by Sequential Proteomic and Genomic Analysis. Clinical Chemistry, 2004, 50: 1544-1552.

  19. Daniel K. Broderick, Chunhui Di, Timothy J. Parrett, Yardena R. Samuels, Jordan M. Cummins, Roger E. McLendon, Daniel W. Fults, Victor E. Velculescu, Darell D. Bigner and Hai Yan. Mutations of PIK3CA in Anaplastic Oligodendrogliomas, High-Grade Astrocytomas, and Medulloblastomas. Cancer Research 2004, 64: 5048-5050.

  20. F Hildebrandt, E Otto, H Khanna, A Swaroop. NPHP nucleic acids and proteins. United States Patent 20050214864.

  21. J. Guillermo Paez, Ming Lin, Rameen Beroukhim, Jeffrey C. Lee, Xiaojun Zhao, Daniel J. Richter, Stacey Gabriel, Paula Herman, Hidefumi Sasaki,David Altshuler, Cheng Li, Matthew Meyerson and William R. Sellers. Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. Nucleic Acids Research, 2004, 32(9):e71.

  22. Hossein Fakhrai-Rad, Jianbia Zheng, Thomas D. Willis, Kee Wong, Kent Suyenaga, Martin Moorhead, Jim Eberle, Yvonne R. Thorstenson, Ted Jones, Ronald W. Davis, Eugen Namsaraev and Malek Faham. SNP discovery in pooled samples with mismatch repair detection. Genome Research, 2004, 14: 1404-1412.

  23. Heidi L. Rehm, Molecular Diagnosis of Hearing Loss. Current Protocols in Human Genetics, 2004, Oct.

  24. ChangSheng Liu. Enhanced Accuracy, Sensitivity, and Speed of DNA Variant Detection of Sequence Traces for Discovery and Diagnostics Analysis. AMERICAN BIOTECHNOLOGY LABORATORY, 2004, 6: 30-32.

  25. Mohamed Bentires-Alj, J. Guillermo Paez, Frank S. David, Heike Keilhack, Balazs Halmos, Katsuhiko Naoki, John M. Maris, Andrea Richardson, Alberto Bardelli, David J. Sugarbaker, William G. Richards, Jinyan Du, Luc Girard, John D. Minna, Mignon L. Loh, David E. Fisher, Victor E. Velculescu, Bert Vogelstein, Matthew Meyerson, William R. Sellers, and Benjamin G. Neel. Activating Mutations of the Noonan Syndrome-Associated SHP2/PTPN11 Gene in Human Solid Tumors and Adult Acute Myelogenous Leukemia. Cancer Res., 2004; 64: 8816 - 8820.

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2003

Alberto J. Bardelli, D. Williams Parsons, Natalie Silliman, Janine Ptak, Steve Szabo, Saurabh Saha, Sandford Markowitz, James K.V. Willson, Giovanni Parmigiani, Kenneth W. Kinzler, Bert Vogelstein, Victor Velculescu. Mutational analysis of the tyrosine kinome in colorectal cancers. SCIENCE, 2003, 300(5621): 949.

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2002

Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE. 2002 Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature. 2002, 418(6901): 934.

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