Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
2003 · Nature Genetics · 386 citations
https://doi.org/10.1038/ng1170
R
Richard Person
GenVec(US)
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146
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44
h-index
98
i10-index
Richard Person is an academic researcher from GenVec. The author has contributed to research in topics: Genetics and Neurodevelopmental Disorders & Genomics and Rare Diseases & Genomic variations and chromosomal abnormalities. The author has an h-index of 44, co-authored 125 publications.
Papers 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
Lymphoid Enhancer Factor-1 Links Two Hereditary Leukemia Syndromes through Core-binding Factor α Regulation of ELA2
2004 · Journal of Biological Chemistry · 38 citations
https://doi.org/10.1074/jbc.m310759200
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
2021 · Genetics in Medicine · 34 citations
https://doi.org/10.1038/s41436-021-01246-2
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities
2019 · European Journal of Human Genetics · 30 citations
https://doi.org/10.1038/s41431-019-0487-1
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2024 · European Journal of Human Genetics · 15 citations
https://doi.org/10.1038/s41431-024-01701-z
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