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Molecular Genetics and Metabolism|January 23, 2009
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiencyGeorgianne L Arnold, Johan Van Hove, Debra Freedenberg, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 14, 2020
The association between newborn screening analytes as measured on a second screen and childhood autism in a Texas Medicaid populationPeter H Langlois, Mark A Canfield, Gary W Rutenberg, et al.Human Molecular Genetics|February 19, 2005
Relapsing diabetes can result from moderately activating mutations in KCNJ11Anna L Gloyn, Frank Reimann, Christophe Girard, et al.International Journal of Neonatal Screening|April 23, 2025
Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis FoundationMeghan E McGarry, Karen S Raraigh, Philip Farrell, et al.Plos One|July 5, 2024
Newborn screening analytes and structural birth defects among 27,000 newbornsPhilip J Lupo, Natalie P Archer, Rachel D Harris, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2006
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio, Ping Fang, Fernando Scaglia, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 2, 2007
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome regionJonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, et al.Cell|September 20, 2011
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangementsPengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, et al.JAMA|August 21, 2014
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United StatesAntonia Kwan, Roshini S Abraham, Robert Currier, et al.Pageof 2