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Costin Leu
Costin Leu
Assistant Professor at the McGovern Medical School, UTHealth Houston
在 uth.tmc.edu 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
13752018
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy
I Helbig, HC Mefford, AJ Sharp, M Guipponi, M Fichera, A Franke, ...
Nature genetics 41 (2), 160-162, 2009
6742009
Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies
CGF de Kovel, H Trucks, I Helbig, HC Mefford, C Baker, C Leu, C Kluck, ...
Brain 133 (1), 23-32, 2010
5022010
Familial and sporadic 15q13. 3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
LM Dibbens, S Mullen, I Helbig, HC Mefford, MA Bayly, S Bellows, C Leu, ...
Human molecular genetics 18 (19), 3626-3631, 2009
2592009
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2452019
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Nature communications 9 (1), 5269, 2018
2432018
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
D Kasperavičiūtė, CB Catarino, M Matarin, C Leu, J Novy, A Tostevin, ...
Brain 136 (10), 3140-3150, 2013
1982013
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies
RJL Anney, A Avbersek, D Balding, L Baum, F Becker, SF Berkovic, ...
The Lancet Neurology, 2014
1702014
A cross-disorder dosage sensitivity map of the human genome
RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ...
Cell 185 (16), 3041-3055. e25, 2022
1682022
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16. 1, 2q22. 3 and 17q21. 32
Epicure Consortium, EMINet Consortium, M Steffens, C Leu, AK Ruppert, ...
Human molecular genetics 21 (24), 5359-5372, 2012
1542012
CHD2 variants are a risk factor for photosensitivity in epilepsy
EC Galizia, CT Myers, C Leu, CGF De Kovel, T Afrikanova, ...
Brain 138 (5), 1198-1208, 2015
1452015
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy
P Striano, YG Weber, MR Toliat, J Schubert, C Leu, R Chaimana, ...
Neurology 78 (8), 557-562, 2012
1172012
Polygenic burden in focal and generalized epilepsies
C Leu, R Stevelink, AW Smith, SB Goleva, M Kanai, L Ferguson, ...
Brain 142 (11), 3473-3481, 2019
1142019
Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis
A Stefanski, Y Calle‐López, C Leu, E Pérez‐Palma, E Pestana‐Knight, ...
Epilepsia 62 (1), 143-151, 2021
1052021
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
HO Heyne, D Baez-Nieto, S Iqbal, DS Palmer, A Brunklaus, P May, ...
Science translational medicine 12 (556), eaay6848, 2020
1032020
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
JA López-Rivera, E Pérez-Palma, J Symonds, AS Lindy, DA McKnight, ...
Brain 143 (4), 1099-1105, 2020
1012020
Dysfunction of NaV1. 4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study
R Männikkö, L Wong, DJ Tester, MG Thor, R Sud, DM Kullmann, ...
The Lancet 391 (10129), 1483-1492, 2018
932018
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
P May, S Girard, M Harrer, DR Bobbili, J Schubert, S Wolking, F Becker, ...
The Lancet Neurology 17 (8), 699-708, 2018
912018
Pitfalls in genetic testing: the story of missed SCN1A mutations
T Djémié, S Weckhuysen, S von Spiczak, GL Carvill, J Jaehn, ...
Molecular genetics & genomic medicine 4 (4), 457-464, 2016
862016
Carbamazepine‐and oxcarbazepine‐induced hyponatremia in people with epilepsy
B Berghuis, J van der Palen, GJ de Haan, D Lindhout, BPC Koeleman, ...
Epilepsia 58 (7), 1227-1233, 2017
812017
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