دنبال کردن
Dennis Lal
Dennis Lal
Director of the Center for Neurogenetics at UTHealth; Visiting Scientist at Broad Institute
ایمیل تأیید شده در broadinstitute.org - صفحهٔ اصلی
عنوان
نقل شده توسط
نقل شده توسط
سال
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
JR Lemke, D Lal, EM Reinthaler, I Steiner, M Nothnagel, M Alber, ...
Nature genetics 45 (9), 1067-1072, 2013
5262013
Progress in understanding and treating SCN2A-mediated disorders
SJ Sanders, AJ Campbell, JR Cottrell, RS Moller, FF Wagner, ...
Trends in neurosciences 41 (7), 442-456, 2018
2982018
De novo variants in neurodevelopmental disorders with epilepsy
HO Heyne, T Singh, H Stamberger, R Abou Jamra, H Caglayan, D Craiu, ...
Nature genetics 50 (7), 1048-1053, 2018
2842018
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
2612019
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
Nature communications 9 (1), 5269, 2018
2572018
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
2152022
Cyclin-dependent kinase-like 5 deficiency disorder: clinical review
HE Olson, ST Demarest, EM Pestana-Knight, LC Swanson, S Iqbal, D Lal, ...
Pediatric neurology 97, 18-25, 2019
2132019
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ...
Neurology 86 (23), 2171-2178, 2016
2002016
The ILAE consensus classification of focal cortical dysplasia: an update proposed by an ad hoc task force of the ILAE diagnostic methods commission
I Najm, D Lal, M Alonso Vanegas, F Cendes, I Lopes‐Cendes, A Palmini, ...
Epilepsia 63 (8), 1899-1919, 2022
1992022
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
1752014
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
1542015
ATP11C is critical for the internalization of phosphatidylserine and differentiation of B lymphocytes
M Yabas, CE Teh, S Frankenreiter, D Lal, CM Roots, B Whittle, ...
Nature immunology 12 (5), 441-449, 2011
1482011
DEPDC5 mutations in genetic focal epilepsies of childhood
D Lal, EM Reinthaler, J Schubert, H Muhle, E Riesch, G Kluger, K Jabbari, ...
Annals of neurology 75 (5), 788-792, 2014
1372014
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development
ST Demarest, HE Olson, A Moss, E Pestana‐Knight, X Zhang, S Parikh, ...
Epilepsia 60 (8), 1733-1742, 2019
1342019
RBFOX1 and RBFOX3 mutations in rolandic epilepsy
D Lal, EM Reinthaler, J Altmüller, MR Toliat, H Thiele, P Nürnberg, ...
PloS one 8 (9), e73323, 2013
1332013
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
1222021
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
1222020
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
1212019
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
1182020
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
KM Johannesen, Y Liu, M Koko, CE Gjerulfsen, L Sonnenberg, J Schubert, ...
Brain 145 (9), 2991-3009, 2022
1112022
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مقاله‌ها 1–20