<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
2017 · Journal of Medical Genetics · 249 citations
https://doi.org/10.1136/jmedgenet-2016-104509
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Alison M. Muir
GenVec(US)
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Alison M. Muir is an academic researcher from GenVec. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Epilepsy research and treatment. The author has an h-index of 22, co-authored 34 publications.
ORCID: 0000-0002-9420-085XPapers by this author
worksAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019 · Nature Communications · 242 citations
https://doi.org/10.1038/s41467-019-10910-w
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
2018 · Genetics in Medicine · 69 citations
https://doi.org/10.1038/s41436-018-0137-y
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
2020 · Genetics in Medicine · 55 citations
https://doi.org/10.1038/s41436-020-00988-9
WBSCR16 Is a Guanine Nucleotide Exchange Factor Important for Mitochondrial Fusion
2017 · Cell Reports · 21 citations
https://doi.org/10.1016/j.celrep.2017.06.090
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
2024 · The American Journal of Human Genetics · 16 citations
https://doi.org/10.1016/j.ajhg.2024.06.008
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