Search Results - "Koval‐Burt, Carrie"
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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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Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot
Published in International journal of neonatal screening (22-09-2022)“…Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia…”
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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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Abstract PO1-08-10: Impact of Oncologist-Led Genetic Counseling and Testing on Prophylactic Mastectomy Rates Among Multi-Ethnic Women with Operable Breast Cancer
Published in Cancer research (Chicago, Ill.) (02-05-2024)“…Abstract Introduction: Approximately 5-10% of breast cancers are attributed to an inherited pathogenic variant (PV) in breast cancer predisposition genes, such…”
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