SoftGenetics - Software PowerTools for Genetic Analysis


Conferences and Papers

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Citations of SoftGenetics Mutation Surveyor and Mutation Explorer.



  1. IDH1 or -2 mutations do not predict outcome and do not cause loss of 5-
    hydroxymethylcytosine or altered histone modifications in central chondrosarcomas

    Cleven, et al
    Clinical Sarcoma Research20177:8 (Read the article)
  2. Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach
    Shah, et al
    Appl Clin Genet. 2017; 10: 27–35. (Read the article)
  3. Comparison of Direct Sequencing, Real-Time PCR-High Resolution Melt (PCR-HRM) and PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) Analysis for Genotyping of Common Thiopurine Intolerant Variant Alleles NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C)
    W-Y Fong et al
    Diagnostics 2017, 7(2), 27; doi:10.3390/diagnostics7020027 (Read the article)
  4. Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
    Tatton-Brown, et al
    Cell (Read the article)
  5. Mutations of MAP2K1 are frequent in pediatric-type follicular lymphoma and result in ERK pathway activation
    Schmidt, et al
    Blood 2017 :blood-2017-03-776278; doi: (Read the article)
  6. Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative
    Johnsen, et al
    bloodadvances.2016002923 (Read the article)
  7. Clinical and Molecular Characterization of Patients with Fructose 1,6-Bisphosphatase Deficiency
    Li, et al
    International Journal of Molecular Sciences (Read the article)
  8. 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)
  9. 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)
  10. 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)
  11. EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension
    Best et al
    Chest Journal April 2017, Vol 151, No. 4 (Read the article)
  12. A comprehensive SNP-based genetic analysis of inbred mouse strains
    Tsang, et al
    Mammalian Genome 16(7):476-80 (Read the article)
  13. 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)
  14. 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)
  15. 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)
  16. 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)
  17. 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)
  18. 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)
  19. MED12 is recurrently mutated in Middle Eastern colorectal cancer
    Siraj et al (Read the article)
  20. Immunohistochemical and Molecular Features of Gastric Hyperplastic Polyps
    Saab et al
    Advances in Cytology & Pathology
    Volume 2 Issue 1 – 2017 (Read the article)
  21. 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)


  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 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)



  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.

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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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  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.

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  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.

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  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.

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