P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*
2024 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2024.100879
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Jenny Goldstein
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Jenny Goldstein is an academic researcher from University of North Carolina at Chapel Hill. The author has contributed to research in topics: Genomics and Rare Diseases & Lysosomal Storage Disorders Research & Genomic variations and chromosomal abnormalities. The author has an h-index of 2, co-authored 7 publications.
Papers by this author
worksP695: Uncertainty in interpretation of GAA variants detected through newborn screening without clinical manifestation of Pompe disease
2024 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2024.101599
O39: The ClinGen Lysosomal Diseases Variant Curation Expert Panel’s guidance on classification of IDUA variants for mucopolysaccharidosis type I
2024 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2024.100877
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