Scott L Pomeroy
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Explore the profile of Scott L Pomeroy including associated specialties, affiliations and a list of published articles.
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125
Citations
41647
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Recent Articles
1.
An Approach to Successful Development of Clinician-Scientists in Neurology: The NINDS R25 Experience
Josephson S, Tennekoon M, Carmichael S, Cash S, Detre J, Hillis A, et al.
Ann Neurol
. 2024 Aug;
96(4):625-632.
PMID: 39099460
Objective: Training clinician-scientists is a primary objective of many academic neurology departments, as these individuals are uniquely positioned to perform insightful clinical or laboratory-based research informed both by clinical knowledge...
2.
Karwacki-Neisius V, Jang A, Cukuroglu E, Tai A, Jiao A, Predes D, et al.
Nature
. 2024 Feb;
627(8004):594-603.
PMID: 38383780
Although KDM5C is one of the most frequently mutated genes in X-linked intellectual disability, the exact mechanisms that lead to cognitive impairment remain unknown. Here we use human patient-derived induced...
3.
Gold M, Ong W, Masteller A, Ghasemi D, Galindo J, Park N, et al.
Nat Commun
. 2024 Jan;
15(1):270.
PMID: 38191555
Many genes that drive normal cellular development also contribute to oncogenesis. Medulloblastoma (MB) tumors likely arise from neuronal progenitors in the cerebellum, and we hypothesized that the heterogeneity observed in...
4.
Chopra M, Savatt J, Bingaman T, Good M, Morgan A, Cooney C, et al.
Genet Med
. 2023 Dec;
26(3):101035.
PMID: 38059438
Purpose: Clinically ascertained variants are under-utilized in neurodevelopmental disorder research. We established the Brain Gene Registry (BGR) to coregister clinically identified variants in putative brain genes with participant phenotypes. Here,...
5.
Chapman O, Luebeck J, Sridhar S, Wong I, Dixit D, Wang S, et al.
Nat Genet
. 2023 Nov;
55(12):2189-2199.
PMID: 37945900
Circular extrachromosomal DNA (ecDNA) in patient tumors is an important driver of oncogenic gene expression, evolution of drug resistance and poor patient outcomes. Applying computational methods for the detection and...
6.
McArthur J, Augustine E, Carmichael S, Ferriero D, Jensen F, Jeste S, et al.
Ann Neurol
. 2023 Sep;
94(6):1005-1007.
PMID: 37755722
Recent insights into the frequency of occurrence and the genetic and mechanistic basis of nervous system disease have demonstrated that neurologic disorders occur as a spectrum across all ages. To...
7.
Rutkove S, Poduri A, Holloway R, Pomeroy S, McArthur J
Ann Clin Transl Neurol
. 2023 Mar;
10(5):842-845.
PMID: 36950959
No abstract available.
8.
Kothari C, Srivastava S, Kousa Y, Izem R, Gierdalski M, Kim D, et al.
J Neurodev Disord
. 2022 Mar;
14(1):24.
PMID: 35321655
Background: Computational phenotypes are most often combinations of patient billing codes that are highly predictive of disease using electronic health records (EHR). In the case of rare diseases that can...
9.
Prensner J, Pomeroy S
Cancer Cell
. 2021 Oct;
39(11):1452-1454.
PMID: 34678149
Minimal residual disease (MRD) assessment has revolutionized the clinical management of pediatric leukemias but has remained challenging to implement in pediatric brain tumors. In this issue of Cancer Cell, Liu...
10.
Michalski J, Janss A, Vezina L, Smith K, Billups C, Burger P, et al.
J Clin Oncol
. 2021 Jun;
39(24):2685-2697.
PMID: 34110925
Purpose: Children with average-risk medulloblastoma (MB) experience survival rates of ≥ 80% at the expense of adverse consequences of treatment. Efforts to mitigate these effects include deintensification of craniospinal irradiation...