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Health Promotion Practice|March 3, 2012
Standardized patients: a promising tool for health education and health promotionMeredith Weaver, Lori Erby
Journal of Genetic Counseling|March 13, 2012
Direct-to-Consumer genetic testing: what are we talking about?Meredith Weaver, Toni I Pollin
Clinical Pediatrics|March 15, 2023
Gastrointestinal and Sleep Issues in Toddlers With Autism Versus Other Neurodevelopmental DisordersKatrine Zlatnik, Anna Milliken, Meredith Weaver, et al.
Molecular Genetics and Metabolism|May 26, 2023
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the peroxisomal disease nomenclatureShruthi Mohan, Megan Mayers, Meredith Weaver, et al.
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.
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.
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.
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