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GenomeDiver: a platform for phenotype-guided medical genomic diagnosis

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Year: 2021
Type: article
Source: Genetics in Medicine
DOI: 10.1038/s41436-021-01219-5
Authors: Nathaniel M. Pearson, Christian Stolte, Kevin Shi, Faygel Beren, Noura S. Abul-Husn, Gabrielle Bertier, Kaitlyn Brown, George A. Diaz, Jacqueline A. Odgis, Sabrina A. Suckiel, Carol R. Horowitz, Melissa Wasserstein, Bruce D. Gelb, Eimear E. Kenny, Charles Gagnon, Vaidehi Jobanputra, Toby Bloom, John M. Greally
Institutions: New York Genome Center, Columbia University, Icahn School of Medicine at Mount Sinai, Children's Hospital at Montefiore, Albert Einstein College of Medicine
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: Regeneron Pharmaceuticals, National Institutes of Health, Genentech, National Human Genome Research Institute, National Institute on Minority Health and Health Disparities, Eunice Kennedy Shriver National Institute of Child Health and Human Development
Awards: G4978073257, Incorporating genomics into the clinical care of diverse NYC children, G7872806469, SUPPORT FOR THE ROSE F KENNEDY IDDRC P50
OpenAlex ID: W3169795140
FWCI: 0.424
Cites: 23
Cited by: 7
Related to: 10
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