Ingo Helbig

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Peter De JongheVIB Department of Molecular Genetics, Neurogenetics Group, University of Antwerp, Institute BornVerified email at molgen.vib-ua.be
Andre FrankeProfessor for Molecular Medicine, Christian-Albrechts-University of KielVerified email at mucosa.de
Dennis LalDirector of the Center for Neurogenetics at UTHealth; Visiting Scientist at Broad InstituteVerified email at broadinstitute.org
Arvid SulsUniversity of AntwerpVerified email at uantwerpen.be
Evan EichlerProfessor of Genome Sciences, University of WashingtonVerified email at gs.washington.edu
Bobby P C KoelemanMedical Genetics, University Medical Center Utrecht, The NetherlandsVerified email at umcutrecht.nl
Niels TommerupProfessor in Medical Genetics, University of CopenhagenVerified email at sund.ku.dk
Roland KrauseUniversity of Luxembourg, Luxembourg Centre for Systems BiomedicineVerified email at uni.lu
Leanne M DibbensUniversity of South Australia, Adelaide, AustraliaVerified email at unisa.edu.au
Aarno PalotieFIMM, Broad Institute, UCLA, University of Helsinki, Sanger InstituteVerified email at helsinki.fi
Peter RobinsonBerlin Institute of Health, Charité - Universitätsmedizin, Berlin, GermanyVerified email at bih-charite.de
Ahmad N. Abou Tayoun, PhD, FACMGAssociate Professor of Genetics, MBRU and Al Jalila Children's Specialty HospitalVerified email at ajch.ae
Christina A GurnettProfessor of Neurology, Washington University in St LouisVerified email at neuro.wustl.edu
gemma carvillNorthwestern UniversityVerified email at northwestern.edu
Renzo GuerriniProfessore di Neuropsichiatria Infantile, Università di FirenzeVerified email at meyer.it
Jochen HampeTechnische Universität Dresden (TU Dresden)Verified email at uniklinikum-dresden.de
Wolfram S KunzProfessor of Neurochemistry, University BonnVerified email at ukb.uni-bonn.de
John L HopperUniversity of MelbourneVerified email at unimelb.edu.au
Patrick MayGenome Analysis, Bioinformatics Core, Luxembourg Centre for Systems BiomedicineVerified email at uni.lu
Ruth OttmanProfessor of Epidemiology (in Neurology and the Sergievsky Center), Columbia UniversityVerified email at columbia.edu

Ingo Helbig

Unknown affiliation

Verified email at email.chop.edu


Title Sort by citations Sort by year Sort by title	Cited by Cited by	Year
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	912	2014
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	798	2017
The human phenotype ontology in 2021 S Köhler, M Gargano, N Matentzoglu, LC Carmody, D Lewis-Smith, ... Nucleic acids research 49 (D1), D1207-D1217, 2021	784	2021
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	676	2009
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	511	2017
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 genetics 6 (5), e1000962, 2010	511	2010
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	503	2013
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	501	2010
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy KL Helbig, KD Farwell Hagman, DN Shinde, C Mroske, Z Powis, S Li, ... Genetics in Medicine 18 (9), 898-905, 2016	355	2016
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	319	2008
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	317	2014
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	312	2014
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ... Neurology 86 (10), 954-962, 2016	308	2016
The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015	286	2015
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ... Nature genetics 47 (4), 393-399, 2015	283	2015
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	263	2018
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	258	2009
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	247	2013
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	245	2014
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	230	2019

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