Ingo Helbig
Ingo Helbig
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
7352014
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
5792009
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
HC Mefford, H Muhle, P Ostertag, S von Spiczak, K Buysse, C Baker, ...
PLoS Genet 6 (5), e1000962, 2010
4412010
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
4242010
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
3882017
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
3432013
Navigating the channels and beyond: unravelling the genetics of the epilepsies
I Helbig, IE Scheffer, JC Mulley, SF Berkovic
The Lancet Neurology 7 (3), 231-245, 2008
2822008
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
2262017
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
2192009
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
2032016
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome
GL Carvill, S Weckhuysen, JM McMahon, C Hartmann, RS Møller, ...
Neurology 82 (14), 1245-1253, 2014
2022014
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ...
The American Journal of Human Genetics 95 (4), 360-370, 2014
1992014
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
1852015
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ...
Nature genetics 47 (4), 393-399, 2015
1822015
Recurrent 200-kb deletions of 16p11. 2 that include the SH2B1 gene are associated with developmental delay and obesity
R Bachmann-Gagescu, HC Mefford, C Cowan, GM Glew, AV Hing, ...
Genetics in Medicine 12 (10), 641-647, 2010
1782010
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ...
The American Journal of Human Genetics 93 (5), 967-975, 2013
1762013
Connexin36 mediates spike synchrony in olfactory bulb glomeruli
JM Christie, C Bark, SG Hormuzdi, I Helbig, H Monyer, GL Westbrook
Neuron 46 (5), 761-772, 2005
1722005
The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ...
1622017
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
C Nava, C Dalle, A Rastetter, P Striano, CGF De Kovel, R Nabbout, ...
Nature genetics 46 (6), 640-645, 2014
1612014
STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
1552016
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