De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome

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

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

Life Sciences, Bioinformatics, Genetics +15

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 981 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Modular Organization and Assembly of SWI/SNF Family Chromatin Remodeling Complexes

Nazar Mashtalir, Brittany C. Michel, Jie Luo et al. · Cell · 2018 · 780 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Identifying facial phenotypes of genetic disorders using deep learning

Yaron Gurovich, Yair Hanani, Omri Bar et al. · Nature Medicine · 2018 · 732 citations

Medicine, Genetics, Molecular Genetics +16