Work

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

Year: 2015

Type: article

Source: Genetics in Medicine

DOI: 10.1038/gim.2015.161

Authors: Jessica X. Chong, Joon-Ho Yu, Peter Lorentzen, Karen M. Park, Seema M. Jamal, Holly K. Tabor, Anita Rauch, Margarita Sifuentes Saenz, Eugen Boltshauser, Karynne E. Patterson, Deborah A. Nickerson, Michael J. Bamshad

Institutions: University of Washington, University of California, Berkeley, Seattle Children's Research Institute, Treuman Katz Center for Pediatric Bioethics and Palliative Care, University of Zurich, University of Colorado Anschutz, University Children's Hospital Zurich, Seattle Children's Hospital

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

Funders: Washington Research Foundation, University of Washington, National Institutes of Health, National Human Genome Research Institute, National Institute of Child Health and Human Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: UW Center for Mendelian Genomics, Genetic and Molecular Basis of Congenital Contractures, Ethical and Social Issues in the Study of Genetics of Complex Traits, Next Generation Mendelian Genetics, UW Center for Mendelian Genomics

OpenAlex ID: W2412386353

FWCI: 4.968

Cites: 42

Cited by: 106

Related to: 10