Benjamin D Philpot
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Explore the profile of Benjamin D Philpot including associated specialties, affiliations and a list of published articles.
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96
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4935
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Recent Articles
1.
Ozarkar S, Patel R, Vulli T, Smith A, Styner M, Hsu L, et al.
Mol Autism
. 2024 Dec;
15(1):54.
PMID: 39726042
Background: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal UBE3A gene, is marked by changes in the brain's white matter (WM). The extent of...
2.
Burette A, Vihma H, Smith A, Ozarkar S, Bennett J, Amaral D, et al.
Front Neuroanat
. 2024 Nov;
18:1478689.
PMID: 39502395
Transcription factor 4 (TCF4) has been implicated in a range of neuropsychiatric disorders, including major depressive disorder, bipolar disorder, and schizophrenia. Mutations or deletions in TCF4 cause Pitt-Hopkins syndrome (PTHS),...
3.
Ozarkar S, Patel R, Vulli T, Smith A, Shen M, Burette A, et al.
Res Sq
. 2024 Aug;
PMID: 39149488
Background: Angelman syndrome (AS), a severe neurodevelopmental disorder resulting from the loss of the maternal gene, is marked by changes in the brain's white matter (WM). The extent of WM...
4.
Krzeski J, Judson M, Philpot B
Curr Opin Neurobiol
. 2024 Aug;
88:102899.
PMID: 39126903
Emerging therapies for Angelman syndrome, a severe neurodevelopmental disorder, are focused on restoring UBE3A gene expression in the brain. Further therapeutic opportunities may arise from a better understanding of how...
5.
Saravanapandian V, Madani M, Nichols I, Vincent S, Dover M, Dikeman D, et al.
J Neurodev Disord
. 2024 Jul;
16(1):39.
PMID: 39014349
Background: Sleep disturbances are a prevalent and complex comorbidity in neurodevelopmental disorders (NDDs). Dup15q syndrome (duplications of 15q11.2-13.1) is a genetic disorder highly penetrant for NDDs such as autism and...
6.
Vihma H, Li K, Welton-Arndt A, Smith A, Bettadapur K, Gilmore R, et al.
Nat Commun
. 2024 Jul;
15(1):5558.
PMID: 38977672
Deletion of the maternal UBE3A allele causes Angelman syndrome (AS); because paternal UBE3A is epigenetically silenced by a long non-coding antisense (UBE3A-ATS) in neurons, this nearly eliminates UBE3A protein in...
7.
Gonzalez Ramirez C, Salvador S, Patel R, Clark S, Miller N, James L, et al.
Front Neuroanat
. 2024 Jun;
18():1410791.
PMID: 38873093
Angelman syndrome (AS) is a neurogenetic disorder caused by mutations or deletions in the maternally-inherited allele, leading to a loss of UBE3A protein expression in neurons. The paternally-inherited allele is...
8.
Williams B, Draper A, Lang P, Lewis T, Smith A, Mayerl S, et al.
Hum Mol Genet
. 2023 Nov;
33(5):448-464.
PMID: 37975905
Biallelic mutations in interphotoreceptor matrix proteoglycan 2 (IMPG2) in humans cause retinitis pigmentosa (RP) with early macular involvement, albeit the disease progression varies widely due to genetic heterogeneity and IMPG2...
9.
Mayerl S, Bajgai S, Ludwig A, Jager L, Williams B, Bacig C, et al.
Stem Cell Reports
. 2022 Oct;
17(11):2409-2420.
PMID: 36206764
Interphotoreceptor matrix proteoglycan 2 (IMPG2) mutations cause a severe form of early-onset retinitis pigmentosa (RP) with macular involvement. IMPG2 is expressed by photoreceptors and incorporated into the matrix that surrounds...
10.
Punt A, Judson M, Sidorov M, Williams B, Johnson N, Belder S, et al.
JCI Insight
. 2022 Sep;
7(18).
PMID: 36134658
Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a severe neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder. Chromosomal multiplication of the UBE3A gene is presumed...