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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.
The Journal of Molecular Diagnostics : JMD|January 4, 2019
Designing and Implementing NGS Tests for Inherited Disorders: A Practical Framework with Step-by-Step Guidance for Clinical LaboratoriesAvni Santani, Birgitte B Simen, Marian Briggs, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 3, 2006
A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome)Wendy R Kates, Kevin M Antshel, Nuria Abdulsabur, et al.
Behavioral and Brain Functions : BBF|October 20, 2005
COMT genetic variation confers risk for psychotic and affective disorders: a case control studyBirgit Funke, Anil K Malhotra, Christine T Finn, et al.
Human Mutation|October 13, 2018
Updated recommendation for the benign stand-alone ACMG/AMP criterionRajarshi Ghosh, Steven M Harrison, Heidi L Rehm, et al.
Biorxiv : the Preprint Server for Biology|September 26, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordanceJennifer J Johnston, Kristy Lee, Deborah I Ritter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2026
Specification of frequency criteria for secondary findings genes to improve variant classification concordanceJennifer J Johnston, Kristy Lee, Deborah I Ritter, et al.
Circulation. Genomic and Precision Medicine|January 26, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy GenesJodie Ingles, Jennifer Goldstein, Courtney Thaxton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2016
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencingDiana Mandelker, Ryan J Schmidt, Arunkanth Ankala, et al.
Human Mutation|October 8, 2015
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 LocusAhmad N Abou Tayoun, Heather Mason-Suares, Ashley L Frisella, et al.
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