Work

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)

Year: 2019

Type: article

Source: Genetics in Medicine

DOI: 10.1038/s41436-019-0686-8

Authors: Erin Rooney Riggs, Erica F. Andersen, Athena M. Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I. Ritter, Sarah T. South, Erik C. Thorland, Daniel Pineda-Alvarez, Swaroop Aradhya, Christa Lese Martin

Institutions: Geisinger Medical Center, Autism & Developmental Medicine Institute, Geisinger Health System, University of Utah, ARUP Laboratories (United States), Stanford Medicine, Stanford University, Quest Diagnostics (United States), Mayo Clinic, Children's Hospital Los Angeles, Baylor College of Medicine, Invitae (United States)

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: National Human Genome Research Institute

Awards: The Clinical Genome Resource - Expert Curation and EHR Integration, Clinical Genome Resource, Clinical Genome Resource (ClinGen)

OpenAlex ID: W2983742483

FWCI: 73.61

Cites: 17

Cited by: 1,934

Related to: 10