Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

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

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

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A copy number variation morbidity map of developmental delay

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Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in <i>GNAQ</i>

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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

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