Jonathan Pevsner
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Explore the profile of Jonathan Pevsner including associated specialties, affiliations and a list of published articles.
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76
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3605
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Recent Articles
1.
Kondo M, Norris A, Yang K, Cheshire M, Newkirk I, Chen X, et al.
Neurosci Res
. 2022 Sep;
185:67-72.
PMID: 36162734
Here we re-analyze RNA-sequencing data from the anterior cingulate cortex (ACC) of SZ patients using recent methods to improve accuracy and sensitivity of results, such as the quality surrogate variable...
2.
Endothelial p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels
Huang L, Bichsel C, Norris A, Thorpe J, Pevsner J, Alexandrescu S, et al.
Arterioscler Thromb Vasc Biol
. 2021 Oct;
42(1):e27-e43.
PMID: 34670408
Objective: Capillary malformation (CM) occurs sporadically and is associated with Sturge-Weber syndrome. The somatic mosaic mutation in (c.548G>A, p.R183Q) is enriched in endothelial cells (ECs) in skin CM and Sturge-Weber...
3.
Fjaer R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarstrom C, et al.
Hum Mol Genet
. 2021 Jun;
30(21):1919-1931.
PMID: 34124757
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery...
4.
Wang Y, Bae T, Thorpe J, Sherman M, Jones A, Cho S, et al.
Genome Biol
. 2021 Mar;
22(1):92.
PMID: 33781308
Background: Post-zygotic mutations incurred during DNA replication, DNA repair, and other cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of various diseases, including cancers. However, detecting...
5.
Rubinstein Y, Robinson P, Gahl W, Avillach P, Baynam G, Cederroth H, et al.
JAMIA Open
. 2021 Jan;
3(3):472-486.
PMID: 33426479
The premise of Open Science is that research and medical management will progress faster if data and knowledge are openly shared. The value of Open Science is nowhere more important...
6.
Osei-Owusu I, Norris A, Joynt A, Thorpe J, Cho S, Tierney E, et al.
Cold Spring Harb Mol Case Stud
. 2020 Dec;
6(6).
PMID: 33335013
Chromosomal structural variation can cause severe neurodevelopmental and neuropsychiatric phenotypes. Here we present a nonverbal female adolescent with severe stereotypic movement disorder with severe problem behavior (e.g., self-injurious behavior, aggression,...
7.
Thorpe J, Osei-Owusu I, Avigdor B, Tupler R, Pevsner J
Annu Rev Genet
. 2020 Sep;
54:487-510.
PMID: 32916079
Mosaicism refers to the occurrence of two or more genomes in an individual derived from a single zygote. Germline mosaicism is a mutation that is limited to the gonads and...
8.
Thorpe J, Frelin L, McCann M, Pardo C, Cohen B, Comi A, et al.
J Invest Dermatol
. 2020 Aug;
141(3):685-688.
PMID: 32771470
No abstract available.
9.
Cho S, Maharathi B, Ball K, Loeb J, Pevsner J
J Pediatr
. 2019 Oct;
215:158-163.e6.
PMID: 31587863
Objective: To examine the symptomatology and treatment of Sturge-Weber syndrome (SWS) from a large patient registry to identify common symptoms, clinical outcomes, and areas of unmet clinical need. Study Design:...
10.
Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, et al.
Sci Adv
. 2019 Oct;
5(9):eaax2166.
PMID: 31579823
RNA binding proteins are key players in posttranscriptional regulation and have been implicated in neurodevelopmental and neuropsychiatric disorders. Here, we report a significant burden of heterozygous, likely gene-disrupting variants in...