Delineating the <i>GRIN1</i> phenotypic spectrum
2016 · Neurology · 202 citations
https://doi.org/10.1212/wnl.0000000000002740
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Newell Belnap
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Newell Belnap is an academic researcher from Translational Genomics Research Institute. The author has contributed to research in topics: Genomics and Rare Diseases & Genetics and Neurodevelopmental Disorders & Epigenetics and DNA Methylation. The author has an h-index of 14, co-authored 34 publications.
ORCID: 0009-0003-8868-5891Papers by this author
worksImproved methods for RNAseq-based alternative splicing analysis
2021 · Scientific Reports · 42 citations
https://doi.org/10.1038/s41598-021-89938-2
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
2023 · eLife · 36 citations
https://doi.org/10.7554/elife.81032
Two 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
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