Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ClinVar: public archive of relationships among sequence variation and human phenotype

Melissa Landrum, Jennifer M. Lee, Wonhee Jang et al. · Nucleic Acids Research · 2013 · 3.7K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Truncations of Titin Causing Dilated Cardiomyopathy

Daniel S. Herman, Lien Lam, Matthew R.G. Taylor et al. · New England Journal of Medicine · 2012 · 1.5K citations

Medicine, Genetics, Molecular Genetics +11

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

Laura M. Amendola, Gail P. Jarvik, Michael C. Leo et al. · The American Journal of Human Genetics · 2016 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.

Yoko Miyoshi, Hitoshi Ando, Hiroki Nagase et al. · Proceedings of the National Academy of Sciences · 1992 · 563 citations

Life Sciences, Genetics, Molecular Genetics +17