Ingo Helbig 个人学术档案 - 学术资源搜索

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Peter De JongheVIB Department of Molecular Genetics, Neurogenetics Group, University of Antwerp, Institute Born在 molgen.vib-ua.be 的电子邮件经过验证
Andre FrankeProfessor for Molecular Medicine, Christian-Albrechts-University of Kiel在 mucosa.de 的电子邮件经过验证
Dennis LalDirector of the Center for Neurogenetics at UTHealth; Visiting Scientist at Broad Institute在 broadinstitute.org 的电子邮件经过验证
Arvid SulsUniversity of Antwerp在 uantwerpen.be 的电子邮件经过验证
Evan EichlerProfessor of Genome Sciences, University of Washington在 gs.washington.edu 的电子邮件经过验证
Bobby P C KoelemanMedical Genetics, University Medical Center Utrecht, The Netherlands在 umcutrecht.nl 的电子邮件经过验证
Niels TommerupProfessor in Medical Genetics, University of Copenhagen在 sund.ku.dk 的电子邮件经过验证
Roland KrauseUniversity of Luxembourg, Luxembourg Centre for Systems Biomedicine在 uni.lu 的电子邮件经过验证
Leanne M DibbensUniversity of South Australia, Adelaide, Australia在 unisa.edu.au 的电子邮件经过验证
Aarno PalotieFIMM, Broad Institute, UCLA, University of Helsinki, Sanger Institute在 helsinki.fi 的电子邮件经过验证
Peter RobinsonBerlin Institute of Health, Charité - Universitätsmedizin, Berlin, Germany在 bih-charite.de 的电子邮件经过验证
Ahmad N. Abou Tayoun, PhD, FACMGAssociate Professor of Genetics, MBRU and Al Jalila Children's Specialty Hospital在 dubaihealth.ae 的电子邮件经过验证
Christina A GurnettProfessor of Neurology, Washington University in St Louis在 neuro.wustl.edu 的电子邮件经过验证
gemma carvillNorthwestern University在 northwestern.edu 的电子邮件经过验证
Renzo GuerriniProfessore di Neuropsichiatria Infantile, Università di Firenze在 meyer.it 的电子邮件经过验证
Wolfram S KunzProfessor of Neurochemistry, University Bonn在 ukb.uni-bonn.de 的电子邮件经过验证
Jochen HampeTechnische Universität Dresden (TU Dresden)在 uniklinikum-dresden.de 的电子邮件经过验证
John L HopperUniversity of Melbourne在 unimelb.edu.au 的电子邮件经过验证
Ruth OttmanProfessor of Epidemiology (in Neurology and the Sergievsky Center), Columbia University在 columbia.edu 的电子邮件经过验证
Patrick MayGenome Analysis, Bioinformatics Core, Luxembourg Centre for Systems Biomedicine在 uni.lu 的电子邮件经过验证

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Ingo Helbig

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在 email.chop.edu 的电子邮件经过验证


标题按引用次数排序按年份排序按标题排序	引用次数引用次数	年份
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	914	2014
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	728	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	674	2009
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	622	2017
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	522	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	514	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	512	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	502	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	368	2016
The human phenotype ontology in 2017 S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ...	349	2017
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	321	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	319	2014
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ... Neurology 86 (10), 954-962, 2016	316	2016
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	316	2014
The phenotypic spectrum of SCN8A encephalopathy J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ... Neurology 84 (5), 480-489, 2015	294	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	285	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	272	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	259	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	255	2013
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	245	2019

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