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Human Genetics|May 12, 2016
Regulating whole exome sequencing as a diagnostic testValentina Lapin, Lindsey C Mighion, Cristina P da Silva, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 5, 2024
Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Bryce A Seifert, Honey V Reddi, Benjamin E Kang, et al.
The Journal of Molecular Diagnostics : JMD|January 14, 2011
Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testingSyed Hussain Askree, Lawrence N Hjelm, Muhammad Ali Pervaiz, et al.
Annals of Neurology|November 8, 2014
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yieldArunkanth Ankala, Cristina da Silva, Francesca Gualandi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2019
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG)Lora J H Bean, Birgit Funke, Colleen M Carlston, et al.
Ophthalmology|November 2, 2010
Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathiesPatrick Yu-Wai-Man, Suma P Shankar, Valérie Biousse, et al.
American Journal of Medical Genetics. Part A|May 9, 2018
Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoformAnjali Sadhwani, Neville E Sanjana, Jennifer M Willen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2021
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Catherine Rehder, Lora J H Bean, David Bick, et al.
Genetic Epidemiology|September 25, 2004
Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndromeKimberly F Kerstann, Eleanor Feingold, Sallie B Freeman, et al.
Molecular Genetics and Metabolism Reports|October 9, 2018
The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginineHong Li, Lihua Zhao, Rani Singh, et al.
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