Work

eP409: Clinical utility of a sponsored, no-charge skeletal dysplasia gene panel testing program: Results from >2600 tests

Year: 2022

Type: article

Study design: Observational Study

Source: Genetics in Medicine

DOI: 10.1016/j.gim.2022.01.444

Authors: Gretchen MacCarrick, William Mackenzie, Cathleen Raggio, Klane White, Deborah Krakow, Emanuela Izzo, Vikram Pansare, Abigail Hunt, Renée Shediac, Dorna Chu, Tiffany Yar Pang, Sarah Poll, Heather McLaughlin, Guillermo Seratti

Institutions: Johns Hopkins University, Alfred I. duPont Hospital for Children, Hospital for Special Surgery, Seattle Children's Hospital, University of California, Los Angeles, BioMarin (United States), Invitae (United States)

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W4220657461

FWCI:

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