Yahya P, Sulong S, Harun A, et al. Analysis of the genetic structure of the Malay population: Ancestry-informative marker SNPs in the Malay of Peninsular Malaysia. Forensic Sci Int Genet 2017; 30: 152-9. URL DOI
Vihinen M, Hancock JM, Maglott DR, Landrum MJ, Schaafsma GC, Taschner P. Human Variome Project Quality Assessment Criteria for Variation Databases. Hum Mutat 2016; 37(6): 549-58. URL DOI
Vihinen M. Establishment of an international database for genetic variants in esophageal cancer. Ann N Y Acad Sci 2016; 1381(1): 45-9. URL DOI
Hassan NN, Plazzer JP, Smith TD, et al. Harmonizing the interpretation of genetic variants across the world: the Malaysian experience. BMC Res Notes 2016; 9: 125. URL DOI
den Dunnen JT, Dalgleish R, Maglott DR, et al. HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat 2016; 37(6): 564-9. URL DOI
Burn J, Watson M. The Human Variome Project. Hum Mutat 2016; 37(6): 505-7. URL DOI
Vihinen M. Muddled genetic terms miss and mess the message. Trends Genet 2015; 31(8): 423-5. URL DOI
Smith TD, Vihinen M, Project HV. Standard development at the Human Variome Project. Database-Oxford 2015. URL
Smith T, Taylor G. Richard Graham Hay Cotton 1940-2015. Nat Genet 2015; 47(8): 850. URL DOI
Savige J, Dalgleish R, Cotton RG, den Dunnen JT, Macrae F, Povey S. The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease. Pediatr Nephrol 2015; 30(11): 1893-901. URL DOI
Halim-Fikri H, Etemad A, Abdul Latif AZ, et al. The first Malay database toward the ethnic-specific target molecular variation. BMC Res Notes 2015; 8: 176. URL DOI
The Editor. Marshaling the Variome. Nat Genet 2015; 47(8): 849. URL DOI
Savige J, Dagher H, Povey S. Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available? Hum Mutat 2014; 35(7): 791-3. URL DOI
International Alport Mutation C, Savige J, Ars E, et al. DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr Nephrol 2014; 29(6): 971-7. URL DOI
Cotton RG, Langer R, Leong T, et al. Coping with esophageal cancer approaches worldwide. Ann N Y Acad Sci 2014; 1325: 138-58. URL DOI
Cotton R. Human variome project - current overview. Molecular cytogenetics 2014; 7(Suppl 1 Proceedings of the International Conference on Human): I1. URL DOI
Bennetts B, Caramins M, Hsu A, et al. Quality standards for DNA sequence variation databases to improve clinical management under development in Australia. Appl Transl Genom 2014; 3(3): 54-7. URL DOI
Plazzer JP, Sijmons RH, Woods MO, et al. The InSiGHT database: utilizing 100 years of insights into Lynch syndrome. Fam Cancer 2013; 12(2): 175-80. URL DOI
Oetting WS, Robinson PN, Greenblatt MS, et al. Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project. Hum Mutat 2013; 34(4): 661-6. URL DOI
Kohonen-Corish MR, Smith TD, Robinson HM, delegates of the 4th Biennial Meeting of the Human Variome Project C. Beyond the genomics blueprint: the 4th Human Variome Project Meeting, UNESCO, Paris, 2012. Genet Med 2013; 15(7): 507-12. URL DOI
The Editor. Abstracts of InSiGHT 5th Biennial Meeting. Pedigree, familial aspects of cancer and the Human Variome Project in conjunction with the COSA Familial Cancer Group. August 28-31, 2013. Fam Cancer 2013; 12 Suppl 2: S29-110. URL DOI
Vihinen M, den Dunnen JT, Dalgleish R, Cotton RG. Guidelines for establishing locus specific databases. Hum Mutat 2012; 33(2): 298-305. URL DOI
Sobrido MJ, Cacheiro P, Carracedo A, Bertram L. Databases for neurogenetics: introduction, overview, and challenges. Hum Mutat 2012; 33(9): 1311-4. URL DOI
Smith TD, Robinson HM, Cotton RG. The Human Variome Project Beijing meeting. J Med Genet 2012; 49(4): 284-9. URLDOI
Plazzer JP, den Dunnen JT, Smith T, Macrae F, Cotton RG. Reporting of Genetic Variants by Diagnostic Laboratories and other Centres. Clin Biochem Rev 2012; 33(1): 21-4. URL
Patrinos GP, Smith TD, Howard H, et al. Human Variome Project country nodes: documenting genetic information within a country. Hum Mutat 2012; 33(11): 1513-9. URL DOI
Lill CM, Bertram L. Developing the "next generation" of genetic association databases for complex diseases. Hum Mutat 2012; 33(9): 1366-72. URL DOI
Howard HJ, Beaudet A, Gil-da-Silva Lopes V, et al. Disease-specific databases: why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011. Am J Med Genet A 2012; 158A(11): 2763-6. URL DOI
Hersheson J, Haworth A, Houlden H. The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics. Hum Mutat 2012; 33(9): 1324-32. URL DOI
Hammond P, Suttie M. Large-scale objective phenotyping of 3D facial morphology. Hum Mutat 2012; 33(5): 817-25. URL DOI
Elson JL, Sweeney MG, Procaccio V, et al. Toward a mtDNA locus-specific mutation database using the LOVD platform. Hum Mutat 2012; 33(9): 1352-8. URL DOI
Celli J, Dalgleish R, Vihinen M, Taschner PE, den Dunnen JT. Curating gene variant databases (LSDBs): toward a universal standard. Hum Mutat 2012; 33(2): 291-7. URL DOI
Taschner PE, den Dunnen JT. Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat 2011; 32(5): 507-11. URL DOI
Samuels ME, Rouleau GA. The case for locus-specific databases. Nat Rev Genet 2011; 12(6): 378-9. URL DOI
Patrinos GP, Al Aama J, Al Aqeel A, et al. Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection. Hum Mutat 2011; 32(1): 2-9. URL DOI
Pan M, Cong P, Wang Y, et al. Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population. Hum Mutat 2011; 32(12): 1335-40. URL DOI
Ozdemir V, Rosenblatt DS, Warnich L, et al. Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA). Curr Pharmacogenomics Person Med 2011; 9(4): 243-51. URL
Moller P, Clark N. CGEN--a Clinical GENetics software application. Hum Mutat 2011; 32(5): 537-42. URL DOI
Lopes P, Dalgleish R, Oliveira JL. WAVe: web analysis of the variome. Hum Mutat 2011; 32(7): 729-34. URL DOI
Lindblom A, Robinson PN. Bioinformatics for human genetics: promises and challenges. Hum Mutat 2011; 32(5): 495-500. URL DOI
Kohonen-Corish MR, Macrae F, Genuardi M, et al. Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. Hum Mutat 2011; 32(4): 491-4. URL DOI
Haworth A, Bertram L, Carrera P, et al. Call for participation in the neurogenetics consortium within the Human Variome Project. Neurogenetics 2011; 12(3): 169-73. URL DOI
Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT. LOVD v.2.0: the next generation in gene variant databases. Hum Mutat 2011; 32(5): 557-63. URL DOI
Cotton RG, Vihinen M, den Dunnen JT, Human Variome Project N, Standards G. Genetic tests need the Human Variome Project. Genet Test Mol Biomarkers 2011; 15(1-2): 3. URL DOI
Cotton RG. Rare disease registries and mutation/variation databases. Hum Mutat 2011; 32(10): 1073-4. URLDOI
Cassereau J, Chevrollier A, Bonneau D, et al. A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K. Orphanet J Rare Dis 2011; 6: 87. URL DOI
Auerbach AD, Burn J, Cassiman JJ, et al. Mutation (variation) databases and registries: a rationale for coordination of efforts. Nat Rev Genet 2011; 12(12): 881; discussion URL DOI
AlAama J, Smith TD, Lo A, et al. Initiating a Human Variome Project Country Node. Hum Mutat 2011; 32(5): 501-6. URL DOI
The Editor. Crowdsourcing human mutations. Nat Genet 2011; 43(4): 279. URL DOI
Povey S, Al Aqeel AI, Cambon-Thomsen A, et al. Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs). Hum Mutat 2010; 31(11): 1179-84. URL DOI
Mitropoulou C, Webb AJ, Mitropoulos K, Brookes AJ, Patrinos GP. Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use. Hum Mutat 2010; 31(10): 1109-16. URL DOI
Massie RJ, Delatycki MB. Reducing the burden of inherited disease: the Human Variome Project. Med J Aust 2010; 193(7): 430-1. URL
Kohonen-Corish MR, Al-Aama JY, Auerbach AD, et al. How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat 2010; 31(12): 1374-81. URL DOI
Kohonen-Corish M, Weber TK, Lindblom A, Macrae F, Meeting P. Report of the combined meeting of the International Society for Gastrointestinal Hereditary Tumours, the Human Variome Project and the National Cancer Institute Colon Cancer Family Registry, Duesseldorf, Germany, 24 June 2009. Fam Cancer 2010; 9(4): 705-11. URL DOI
Kaput J, Evelo CT, Perozzi G, van Ommen B, Cotton R. Connecting the Human Variome Project to nutrigenomics. Genes Nutr 2010; 5(4): 275-83. URL DOI
Howard HJ, Horaitis O, Cotton RG, et al. The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards". Hum Mutat 2010; 31(3): 366-7. URL DOI
Gao S, Zhang N, Zhang L, Duan GY, Zhang T. [The human variome project and its progress]. Yi Chuan 2010; 32(11): 1105-13. URL
Cotton RG, Macrae FA. Reducing the burden of inherited disease: the Human Variome Project. Med J Aust 2010; 192(11): 628-9. URL
Olivier M, Petitjean A, Teague J, et al. Somatic Mutation Databases as Tools for Molecular Epidemiology and Molecular Pathology of Cancer: Proposed Guidelines for Improving Data Collection, Distribution, and Integration. Hum Mutat 2009; 30(3): 275-82. URL
Kaput J, Cotton RG, Hardman L, et al. Planning the human variome project: the Spain report. Hum Mutat 2009; 30(4): 496-510. URL DOI
Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009; 37(9): e67. URL DOI
den Dunnen JT, Sijmons RH, Andersen PS, et al. Sharing Data between LSDBs and Central Repositories. Hum Mutat 2009; 30(4): 493-5. URL
Cotton RG, Al Aqeel AI, Al-Mulla F, et al. Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project. Genet Med 2009; 11(12): 843-9. URL DOI
Cotton RG. Collection of variation causing disease--the Human Variome Project. Hum Genomics 2009; 3(4): 301-3. URL
Brookes AJ, Lehvaslaiho H, Muilu J, et al. The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation. Hum Mutat 2009; 30(6): 968-77. URL DOI
Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PEM. Improving sequence variant descriptions in mutation Databases and literature using the mutalyzer sequence variation nomenclature checker. Hum Mutat 2008; 29(1): 6-13. URL
Plon SE, Eccles DM, Easton D, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008; 29(11): 1282-91. URL DOI
Cotton RGH, Auerbach AD, Beckmann JS, et al. Recommendations for locus-speciific databases and their curation. Hum Mutat 2008; 29(1): 2-5. URL
Cotton RG, Auerbach AD, Axton M, et al. GENETICS. The Human Variome Project. Science (New York, NY) 2008; 322(5903): 861-2. URL DOI
The Editor. Human variome microattribution reviews. Nature Genetics 2008; 40(1): 1-. URL
Horaitis O, Talbot CC, Jr., Phommarinh M, Phillips KM, Cotton RG. A database of locus-specific databases. Nat Genet 2007; 39(4): 425. URL DOI
Cotton RGH, Auerbach AD, Brown AF, et al. A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases. Hum Mutat 2007; 28(10): 931-2. URL
Cotton RG, Human Variome P, Appelbe W, et al. Recommendations of the 2006 Human Variome Project meeting. Nat Genet 2007; 39(4): 433-6. URL DOI
The Editor. Compete, collaborate, compel. Nat Genet 2007; 39(8): 931. URL DOI
The Editor. What is the human variome project? Nat Genet 2007; 39(4): 423. URL DOI
Ring HZ, Kwok PY, Cotton RG. Human Variome Project: an international collaboration to catalogue human genetic variation. Pharmacogenomics 2006; 7(7): 969-72. URL DOI
The Editor. The germinating seed of Arab genomics. Nat Genet 2006; 38(8): 851. URL DOI
Patrinos GP, Brookes AJ. DNA, diseases and databases: disastrously deficient. Trends Genet 2005; 21(6): 333-8. URL DOI
Cotton RG, Sallee C, Knoppers BM. Locus-specific databases: from ethical principles to practice. Hum Mutat 2005; 26(5): 489-93. URL DOI
Horaitis O, Cotton RG. The challenge of documenting mutation across the genome: the human genome variation society approach. Hum Mutat 2004; 23(5): 447-52. URL DOI
den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15(1): 7-12. URL DOI