Swaroop Aradhya

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Erin Rooney Riggs, Erica Andersen, Athena M. Cherry et al. · Genetics in Medicine · 2019 · 1.7K citations · Full text

Clinical Genome Resource, Genetic Testing, Technical Standards +13

The DNA sequence of the human X chromosome

Mark T. Ross, Darren Grafham, Alison J. Coffey et al. · Nature · 2005 · 1.2K citations · Full text

Chromatin, Dna, Genetics +7

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky, Vineith Kaul, Justin Paschall et al. · Genetics in Medicine · 2011 · 444 citations · Full text

Intellectual Impairment, Psychiatry, Genetic Disorder +6

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Daniel Moreno‐De‐Luca, Jennifer G. Mullé, Erin B. Kaminsky et al. · The American Journal of Human Genetics · 2010 · 331 citations · Full text

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

David A. Koolen, Andrew J. Sharp, Jane A. Hurst et al. · Journal of Medical Genetics · 2008 · 215 citations