Search Results - "Kurfiss, Anne"
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Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study
Published in JAMA pediatrics (01-05-2021)“…A targeted genomic sequencing platform focused on diseases presenting in the first year of life may minimize financial and ethical challenges associated with…”
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Journal Article -
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Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder
Published in JAMA : the journal of the American Medical Association (11-07-2023)“…IMPORTANCE: Genomic testing in infancy guides medical decisions and can improve health outcomes. However, it is unclear whether genomic sequencing or a…”
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Journal Article