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Molecular Genetics and Metabolism|March 7, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromesJennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, et al.
American Journal of Medical Genetics. Part A|August 6, 2025
Exonic Variation and Its Clinical Impact in 7221 Old Order AmishBraxton D Mitchell, Ebuka Onyenobi, Joshua P Lewis, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 12, 2014
Implementation of pharmacogenetics: the University of Maryland Personalized Anti-platelet Pharmacogenetics ProgramAlan R Shuldiner, Kathleen Palmer, Ruth E Pakyz, et al.
Circulation. Cardiovascular Genetics|February 9, 2013
Genetic variation in PEAR1 is associated with platelet aggregation and cardiovascular outcomesJoshua P Lewis, Kathleen Ryan, Jeffrey R O'Connell, et al.
Diabetes|December 16, 2022
Identification of Genetic Variation Influencing Metformin Response in a Multiancestry Genome-Wide Association Study in the Diabetes Prevention Program (DPP)Josephine H Li, James A Perry, Kathleen A Jablonski, et al.
Diabetes Care|June 28, 2022
Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine ProgramHaichen Zhang, Jeffrey W Kleinberger, Kristin A Maloney, et al.
BMC Medical Genomics|May 24, 2017
Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) networkNina R Sperber, Janet S Carpenter, Larisa H Cavallari, et al.
Nature Genetics|October 8, 2024
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genesAlicia Huerta-Chagoya, Philip Schroeder, Ravi Mandla, et al.
Medrxiv : the Preprint Server for Health Sciences|August 30, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen Clinical Validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
Molecular Genetics and Metabolism|October 19, 2024
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity frameworkEmily Groopman, Shruthi Mohan, Amber Waddell, et al.
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