Search Results - "Cohen, Lilian L"
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Pilot study of population-based newborn screening for spinal muscular atrophy in New York state
Published in Genetics in medicine (01-06-2018)“…Purpose To determine feasibility and utility of newborn screening for spinal muscular atrophy (SMA) in New York State. Methods We validated a multiplex TaqMan…”
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Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study
Published in Annals of clinical and translational neurology (01-08-2023)“…Objective Duchenne muscular dystrophy (DMD) is an X‐linked disorder resulting in progressive muscle weakness and atrophy, cardiomyopathy, and in late stages,…”
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Natural history variations for neuronal ceroid lipofuscinosis type 2: In support of newborn screening
Published in Epilepsia (Copenhagen) (01-05-2023)Get full text
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Translating Advances in Cardiogenetics Into Effective Clinical Practice
Published in Qualitative health research (01-10-2014)“…In this article we describe a qualitative research study in which we explored individuals’ subjective experiences of both genetic testing and cardiogenetic…”
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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions
Published in JAMA : the journal of the American Medical Association (24-10-2024)“…IMPORTANCE: The feasibility of implementing genome sequencing as an adjunct to traditional newborn screening (NBS) in newborns of different racial and ethnic…”
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