Scott M Paul
Overview
Explore the profile of Scott M Paul including associated specialties, affiliations and a list of published articles.
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27
Citations
1389
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0
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Recent Articles
1.
Srivastava S, Sahin M, Buxbaum J, Berry-Kravis E, Soorya L, Thurm A, et al.
Am J Med Genet A
. 2023 Jul;
191(8):2015-2044.
PMID: 37392087
Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. The first practice parameters for assessment and monitoring...
2.
de Castro L, Michel Z, Pan K, Taylor J, Szymczuk V, Paravastu S, et al.
N Engl J Med
. 2023 Feb;
388(8):766-768.
PMID: 36812441
No abstract available.
3.
DiGiovanna J, Randall G, Edelman A, Allawh R, Xiong M, Tamura D, et al.
Am J Med Genet A
. 2022 Sep;
188(12):3448-3462.
PMID: 36103153
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder of DNA repair and transcription with developmental delay and abnormalities in brain, eye, skin, nervous, and musculoskeletal systems. We followed a...
4.
Gross A, Glassberg B, Wolters P, Dombi E, Baldwin A, Fisher M, et al.
Neuro Oncol
. 2022 Apr;
24(11):1978-1988.
PMID: 35467749
Background: Selumetinib was recently approved for the treatment of inoperable symptomatic plexiform neurofibromas (PNs) in children with neurofibromatosis type 1 (NF1). This parallel phase II study determined the response rate...
5.
Whitman M, Barry B, Robson C, Facio F, Van Ryzin C, Chan W, et al.
Hum Genet
. 2021 Oct;
140(12):1709-1731.
PMID: 34652576
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations....
6.
Gross A, Wolters P, Dombi E, Baldwin A, Whitcomb P, Fisher M, et al.
N Engl J Med
. 2020 Mar;
382(15):1430-1442.
PMID: 32187457
Background: No approved therapies exist for inoperable plexiform neurofibromas in patients with neurofibromatosis type 1. Methods: We conducted an open-label, phase 2 trial of selumetinib to determine the objective response...
7.
Keppler-Noreuil K, Sapp J, Lindhurst M, Darling T, Burton-Akright J, Bagheri M, et al.
Am J Hum Genet
. 2019 Feb;
104(3):484-491.
PMID: 30803705
Proteus syndrome is a life-threatening segmental overgrowth syndrome caused by a mosaic gain-of-function AKT1 variant. There are no effective treatments for Proteus syndrome. Miransertib is an AKT1 inhibitor that, prior...
8.
Florenzano P, Pan K, Brown S, Paul S, Kushner H, Guthrie L, et al.
J Bone Miner Res
. 2019 Jan;
34(4):653-660.
PMID: 30645769
Fibrous dysplasia (FD) is a mosaic disease in which bone is replaced with fibro-osseous tissue. Lesions expand during childhood, reaching final burden by age 15 years. In vitro data suggest...
9.
Berglund J, Tella S, Tuthill K, Kim L, Guthrie L, Paul S, et al.
J Bone Miner Res
. 2018 Apr;
33(9):1641-1648.
PMID: 29669167
Scoliosis is a complication of fibrous dysplasia/McCune-Albright syndrome (FD/MAS); however, risk factors and long-term outcomes are unknown. Bisphosphonates are commonly used; however, it is unknown whether their use decrease the...
10.
Montealegre Sanchez G, Reinhardt A, Ramsey S, Wittkowski H, Hashkes P, Berkun Y, et al.
J Clin Invest
. 2018 Apr;
128(7):3041-3052.
PMID: 29649002
Background: Monogenic IFN-mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN response gene signature, inflammatory organ damage, and high mortality. We used the JAK inhibitor baricitinib, with IFN-blocking...