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An online compendium of treatable genetic disorders.

Autor: Bick, David, Bick, Sarah L., Dimmock, David P., Fowler, Tom A., Caulfield, Mark J., Scott, Richard H.

Publikováno v: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Mar2021, Vol. 187 Issue 1, p48-54, 7p

Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders.

Autor: Bick SL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA; Harvard Medical School, Boston, MA., Nathan A; Department of Biomedical Informatics, Harvard Medical School, Boston, MA., Park H; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA., Green RC; Harvard Medical School, Boston, MA; Mass General Brigham, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA; Ariadne Labs, Boston, MA., Wojcik MH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA., Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA; Harvard Medical School, Boston, MA. Electronic address: ngold@mgh.harvard.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 28; Vol. 27 (1), pp. 101284. Date of Electronic Publication: 2024 Sep 28.