Katherine L. Helbig
Katherine L. Helbig
The Children's Hospital of Philadelphia, Division of Neurology
Підтверджена електронна адреса в email.chop.edu
Назва
Посилання
Посилання
Рік
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
5892009
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ...
Brain 140 (5), 1316-1336, 2017
2552017
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy
KL Helbig, KDF Hagman, DN Shinde, C Mroske, Z Powis, S Li, S Tang, ...
Genetics in Medicine 18 (9), 898-905, 2016
2152016
Distinguishing sleep disorders from seizures: diagnosing bumps in the night
CP Derry, M Davey, M Johns, K Kron, D Glencross, C Marini, IE Scheffer, ...
Archives of neurology 63 (5), 705-709, 2006
2032006
STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
1672016
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
1332018
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ...
Journal of medical genetics 54 (7), 460-470, 2017
1152017
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
1032016
Phenotypic spectrum of GABRA1: from generalized epilepsies to severe epileptic encephalopathies
K Johannesen, C Marini, S Pfeffer, RS Møller, T Dorn, CE Niturad, ...
Neurology 87 (11), 1140-1151, 2016
802016
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
772019
Genetic epilepsy with febrile seizures plus: refining the spectrum
YH Zhang, R Burgess, JP Malone, GC Glubb, KL Helbig, L Vadlamudi, ...
Neurology 89 (12), 1210-1219, 2017
622017
De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ...
The American Journal of Human Genetics 101 (5), 768-788, 2017
612017
GRIN2A-related disorders: genotype and functional consequence predict phenotype
V Strehlow, HO Heyne, DRM Vlaskamp, KFM Marwick, G Rudolf, ...
Brain 142 (1), 80-92, 2019
602019
Classification of genes: standardized clinical validity assessment of gene–disease associations aids diagnostic exome analysis and reclassifications
ED Smith, K Radtke, M Rossi, DN Shinde, S Darabi, D El‐Khechen, ...
Human mutation 38 (5), 600-608, 2017
582017
Exploration of the genetic architecture of idiopathic generalized epilepsies
A Hempelmann, KP Taylor, A Heils, S Lorenz, JF Prud'Homme, ...
Epilepsia 47 (10), 1682-1690, 2006
512006
De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias
KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ...
The American Journal of Human Genetics 103 (5), 666-678, 2018
482018
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline
K Hardies, Y Cai, C Jardel, AC Jansen, M Cao, P May, T Djémié, ...
Brain 139 (9), 2420-2430, 2016
482016
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
AE Fry, KA Fawcett, N Zelnik, H Yuan, BAN Thompson, L Shemer-Meiri, ...
Brain 141 (3), 698-712, 2018
452018
DNM1 encephalopathy: a new disease of vesicle fission
S Von Spiczak, KL Helbig, DN Shinde, R Huether, M Pendziwiat, ...
Neurology 89 (4), 385-394, 2017
452017
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases
KDF Hagman, DN Shinde, C Mroske, E Smith, K Radtke, L Shahmirzadi, ...
Genetics in Medicine 19 (2), 224-235, 2017
442017
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