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Presentation: Limb-girdle Muscular Dystrophy: A Clinical Review and Test Utilization Guide
Publication: The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Publication: Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts
Publication: Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD