Citations and Papers

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Citations of SoftGenetics Mutation Surveyor and Mutation Explorer.


  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)
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  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
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  4. Multiple clinical characteristics separate MED12-mutation- positive and -negative uterine leiomyomas
    Heinonen, et al
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  5. EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension
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  6. A comprehensive SNP-based genetic analysis of inbred mouse strains
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  7. Clinicopathological features and outcome of chronic lymphocytic leukaemia in Chinese patients
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  8. Primary Clear Cell Microcystic Adenoma of the Sinonasal Cavity: Pathological or Fortuitous Association?
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    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
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    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
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  11. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
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  12. Validation of an Extensive CYP2D6 Assay Panel Based on Invader and TaqMan Copy Number Assays
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    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
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  14. Immunohistochemical and Molecular Features of Gastric Hyperplastic Polyps
    Saab et al
    Advances in Cytology & Pathology
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  15. Potential actionable targets in appendiceal cancer detected by immunohistochemistry, fluorescent in situ hybridization, and mutational analysis
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    Vol 8, No 1 (February 2017) (Read the article)



  1. Exome Sequencing Reveals Germline Gain-of- Function EGFR Mutation in an Adult with Lhermitte-Duclos Disease
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  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

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  4. CLN8 disease caused by large genomic deletions

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    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

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

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

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    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 doi:10.1172/jci.insight.88766

  8. Child–Parent Familial Hypercholesterolemia Screening in Primary Care

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    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
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    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
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    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)



  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)


  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)


  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


  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.

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  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.

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