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Genomics in Newborn Screening |
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| Authors: | Yuval E. Landau Uta Lichter-Konecki Harvey L. Levy |
| Affiliation: | 1 Division of Genetics, Boston Children''s Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA;2 Division of Genetics and Metabolism, Children''s National Medical Center and the Department of Pediatrics, The George Washington University School of Medicine, Washington, DC;3 Pediatric Neurology Unit, Dana Children''s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel |
| Abstract: | |
| Keywords: | ACMG, American College of Medical Genetics NGS, Next-generation sequencing PCR, Polymerase chain reaction PKU, Phenylketonuria VLCAD, Very long chain acyl-CoA dehydrogenase VUS, Variants of unknown significance WES, Whole exome sequencing WGS, Whole genome sequencing |
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