Brett Copeland
Overview
Explore the profile of Brett Copeland including associated specialties, affiliations and a list of published articles.
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13
Citations
795
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Recent Articles
1.
Chung C, Yang X, Bae T, Vong K, Mittal S, Donkels C, et al.
Nat Genet
. 2023 Jan;
55(2):209-220.
PMID: 36635388
Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosaic mutations, and cause intractable epilepsy....
2.
Tiosano D, Baris H, Chen A, Hitzert M, Schueler M, Gulluni F, et al.
PLoS Genet
. 2019 Apr;
15(4):e1008088.
PMID: 31034465
PIK3C2A is a class II member of the phosphoinositide 3-kinase (PI3K) family that catalyzes the phosphorylation of phosphatidylinositol (PI) into PI(3)P and the phosphorylation of PI(4)P into PI(3,4)P2. At the...
3.
Hayeck T, Stong N, Wolock C, Copeland B, Kamalakaran S, Goldstein D, et al.
Am J Hum Genet
. 2019 Jan;
104(2):299-309.
PMID: 30686509
Different parts of a gene can be of differential importance to development and health. This regional heterogeneity is also apparent in the distribution of disease-associated mutations, which often cluster in...
4.
Groopman E, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal V, Milo-Rasouly H, et al.
N Engl J Med
. 2018 Dec;
380(2):142-151.
PMID: 30586318
Background: Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic...
5.
Rasouly H, Groopman E, Heyman-Kantor R, Fasel D, Mitrotti A, Westland R, et al.
Ann Intern Med
. 2018 Nov;
170(1):11-21.
PMID: 30476936
Background: Exome sequencing is increasingly being used for clinical diagnostics, with an impetus to expand reporting of incidental findings across a wide range of disorders. Analysis of population cohorts can...
6.
Guemez-Gamboa A, Caglayan A, Stanley V, Gregor A, Zaki M, Saleem S, et al.
Ann Neurol
. 2018 Sep;
84(5):638-647.
PMID: 30178464
Objective: To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome. Methods: Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radiological...
7.
Schaffer A, Breuss M, Caglayan A, Al-Sanaa N, Al-Abdulwahed H, Kaymakcalan H, et al.
Nat Genet
. 2018 Jul;
50(8):1093-1101.
PMID: 30013181
Neuronal migration defects, including pachygyria, are among the most severe developmental brain defects in humans. Here, we identify biallelic truncating mutations in CTNNA2, encoding αN-catenin, in patients with a distinct...
8.
Zhu X, Padmanabhan R, Copeland B, Bridgers J, Ren Z, Kamalakaran S, et al.
PLoS Genet
. 2017 Nov;
13(11):e1007104.
PMID: 29186148
Trio exome sequencing has been successful in identifying genes with de novo mutations (DNMs) causing epileptic encephalopathy (EE) and other neurodevelopmental disorders. Here, we evaluate how well a case-control collapsing...
9.
Baek S, Copeland B, Yun E, Kwon S, Guemez-Gamboa A, Schaffer A, et al.
Nat Med
. 2015 Nov;
21(12):1445-54.
PMID: 26523971
Focal malformations of cortical development (FMCDs) account for the majority of drug-resistant pediatric epilepsy. Postzygotic somatic mutations activating the phosphatidylinositol-4,5-bisphosphate-3-kinase (PI3K)-protein kinase B (AKT)-mammalian target of rapamycin (mTOR) pathway are...
10.
Roosing S, Hofree M, Kim S, Scott E, Copeland B, Romani M, et al.
Elife
. 2015 May;
4:e06602.
PMID: 26026149
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA)...