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Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 19, 2017
Using high-resolution variant frequencies to empower clinical genome interpretationNicola Whiffin, Eric Minikel, Roddy Walsh, et al.
Human Molecular Genetics|July 21, 2009
Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in miceGo Suzuki, Kathryn M Harper, Takeshi Hiramoto, et al.
The Journal of Molecular Diagnostics : JMD|January 25, 2022
A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards InstituteMarco L Leung, Jianling Ji, Samuel Baker, et al.
Human Mutation|September 8, 2018
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterionAhmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, et al.
Genome Medicine|July 2, 2025
Understanding how gene-disease relationships can impact clinical utility: adaptations and challenges in hereditary cancer testingJennifer Herrera-Mullar, Carolyn Horton, Amybeth Weaver, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2025
Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence levelGwendolyn Bennett, Izabela Karbassi, Wenjie Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification frameworkSean V Tavtigian, Marc S Greenblatt, Steven M Harrison, et al.
Archives of Pathology & Laboratory Medicine|October 18, 2023
Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence VariantsKaren D Tsuchiya, Birgit Funke, Madhuri Hegde, et al.
Human Mutation|June 15, 2013
Genetic abnormalities in FOXP1 are associated with congenital heart defectsSheng-Wei Chang, Mona Mislankar, Chaitali Misra, et al.
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