Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
2020 · Nature Communications · 70 citations
https://doi.org/10.1038/s41467-020-17452-6
K
Keri Ramsey
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Keri Ramsey is an academic researcher from Translational Genomics Research Institute. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & RNA modifications and cancer. The author has an h-index of 20, co-authored 38 publications.
Papers by this author
worksTwo additional males with X‐linked, syndromic mental retardation carry de novo mutations in <i>HNRNPH2</i>
2019 · Clinical Genetics · 20 citations
https://doi.org/10.1111/cge.13580
An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach
2016 · Molecular Genetics and Metabolism Reports · 13 citations
https://doi.org/10.1016/j.ymgmr.2016.12.005
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant
2023 · Rare · 6 citations
https://doi.org/10.1016/j.rare.2023.100017
Family and caregiver perspectives on gene therapy for Rett syndrome
2024 · Rare · 3 citations
https://doi.org/10.1016/j.rare.2024.100045
P226: Genome sequencing after negative exome sequencing: Results in a rare disease cohort
2025 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2025.102191
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