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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working GroupRyan J Schmidt, Marcie Steeves, Pinar Bayrak-Toydemir, et al.
American Heart Journal|April 29, 2008
The genetic response to short-term interventions affecting cardiovascular function: rationale and design of the Heredity and Phenotype Intervention (HAPI) Heart StudyBraxton D Mitchell, Patrick F McArdle, Haiqing Shen, et al.
Diabetes|August 29, 2006
Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1qEleftheria Zeggini, Coleen M Damcott, Robert L Hanson, et al.
BMC Medical Genomics|January 6, 2016
The IGNITE network: a model for genomic medicine implementation and researchKristin Wiisanen Weitzel, Madeline Alexander, Barbara A Bernhardt, et al.
Genome Medicine|November 6, 2016
Somatic cancer variant curation and harmonization through consensus minimum variant level dataDeborah I Ritter, Sameek Roychowdhury, Angshumoy Roy, et al.
Molecular Genetics and Metabolism|October 31, 2023
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert PanelJennifer L Goldstein, Jennifer McGlaughon, Dona Kanavy, et al.
Molecular Genetics and Metabolism|May 26, 2026
Variant classification for mucopolysaccharidosis type I; ACMG/AMP specification for IDUA from the ClinGen lysosomal diseases variant curation expert panelMelanie Lacaria, Jennifer L Goldstein, Carlos Aschoff, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2016
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variationJessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, et al.
JACC. Cardiovascular Interventions|November 6, 2017
Multisite Investigation of Outcomes With Implementation of CYP2C19 Genotype-Guided Antiplatelet Therapy After Percutaneous Coronary InterventionLarisa H Cavallari, Craig R Lee, Amber L Beitelshees, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 28, 2017
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigreesGoo Jun, Alisa Manning, Marcio Almeida, et al.
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