Richard Person

GenVec — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

44h-index11.1kcitations146works3.82yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(39), Genomics and Rare Diseases(31), Genomic variations and chromosomal abnormalities(25), Blood disorders and treatments(15), Epigenetics and DNA Methylation(13)

Publications143 total

De novo variants in ATP2B1 lead to neurodevelopmental delay
The American Journal of Human Genetics·2025Open Access
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Journal of Clinical Investigation·2025· 2 citedOpen Access
Further delineation of the SCAF4-associated neurodevelopmental disorder
European Journal of Human Genetics·2024· 4 citedOpen Access
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
UNC Libraries·2024Open Access
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
European Journal of Human Genetics·2024· 15 citedOpen Access
A pleiotropic recurrent dominant <i>ITPR3</i> variant causes a complex multisystemic disease
Science Advances·2024· 5 citedOpen Access
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
Nature Communications·2024· 4 citedOpen Access
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American Journal of Human Genetics·2024Open Access
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
The American Journal of Human Genetics·2024Open Access
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
The American Journal of Human Genetics·2024· 8 citedOpen Access
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
The American Journal of Human Genetics·2023· 15 citedOpen Access
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
Brain·2023· 11 citedOpen Access
Rare variants in <i>PPFIA3</i> cause delayed development, intellectual disability, autism, and epilepsy
2023· 3 citedOpen Access
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
Human Genetics and Genomics Advances·2022· 8 citedOpen Access
The different clinical facets of SYN1-related neurodevelopmental disorders
Frontiers in Cell and Developmental Biology·2022· 28 citedOpen Access
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>
Neurology·2022· 21 citedOpen Access
Phenotypic continuum of <scp><i>NFU1</i></scp>‐related disorders
Annals of Clinical and Translational Neurology·2022· 5 citedOpen Access
Loss of symmetric cell division of apical neural progenitors drives <i>DENND5A</i> -related developmental and epileptic encephalopathy
2022Open Access
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling
Genetics in Medicine·2022· 19 citedOpen Access
Heterozygous variants in <i>PRPF8</i> are associated with neurodevelopmental disorders
American Journal of Medical Genetics Part A·2022· 13 cited
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Frequent Co-authors

Arthur L. Beaudet(12), Fan Xia(7), James R. Lupski(7), Zhiyv Niu(6), Richard A. Gibbs(6), Christine M. Eng(6), Magdalena Walkiewicz(6), Marshall S. Horwitz(6), Jill A. Rosenfeld(6), Yaping Yang(5), Matthew N. Bainbridge(5), Donna M. Muzny(5), Eric Boerwinkle(5), Kathleen F. Benson(5), Reza Maroofian(5), Claudia Ruivenkamp(5), Koen L.I. van Gassen(5), Amy Crunk(5), Sharon E. Plon(4), William J. Craigen(4)