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A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early check implementation
October 04, 2024
Article
Clinician perspectives of gene therapy as a treatment option for Duchenne muscular dystrophy
September 01, 2024
Article
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
August 22, 2024
Article
Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation
May 01, 2024