Ingo Helbig mainly focuses on Epilepsy, Genetics, Bioinformatics, Intellectual disability and Idiopathic generalized epilepsy. His Epilepsy study combines topics from a wide range of disciplines, such as Missense mutation, Genetic heterogeneity, Pediatrics and Age of onset. His work on Genetics deals in particular with Mutation, Exome sequencing, Exome, Phenotype and Gene.
His Bioinformatics study incorporates themes from Genome-wide association study, Segmental duplication and Copy-number variation. His Intellectual disability research is multidisciplinary, incorporating elements of Schizophrenia and Autism. His Idiopathic generalized epilepsy research incorporates elements of Internal medicine, Single-nucleotide polymorphism, Juvenile myoclonic epilepsy and Mendelian inheritance.
Ingo Helbig focuses on Epilepsy, Genetics, Pediatrics, Gene and Phenotype. His Epilepsy research is multidisciplinary, relying on both Exome sequencing, Missense mutation, Intellectual disability and Bioinformatics. Ingo Helbig interconnects Internal medicine and Generalized epilepsy in the investigation of issues within Missense mutation.
The study incorporates disciplines such as Hypotonia and Neuroscience in addition to Intellectual disability. His Pediatrics study also includes fields such as
His main research concerns Epilepsy, Genetics, Phenotype, Intellectual disability and Gene. The Epilepsy study combines topics in areas such as Exome sequencing, Missense mutation, Bioinformatics and Hypotonia, Pediatrics. His Bioinformatics research includes themes of West Syndrome and Etiology.
His work on Microcephaly, Neurodevelopmental disorder and Clinical phenotype as part of general Genetics research is often related to STXBP1 and Spelling, thus linking different fields of science. His work deals with themes such as Genetic generalized epilepsy and Genotype, which intersect with Phenotype. His Intellectual disability study integrates concerns from other disciplines, such as Sex characteristics, Loss function, Encephalopathy, Speech delay and Neuroscience.
Ingo Helbig mainly investigates Epilepsy, Genetics, Phenotype, Missense mutation and Hypotonia. Epilepsy and STXBP1 are two areas of study in which Ingo Helbig engages in interdisciplinary research. His Genetics research focuses on Gene, Microcephaly, Locus, Intron and Neurodevelopmental disorder.
His work in the fields of Conditional gene knockout overlaps with other areas such as Synaptic vesicle recycling. His work carried out in the field of Missense mutation brings together such families of science as Sodium channel blocker, Copy-number variation, Generalized epilepsy and Dravet syndrome. The various areas that Ingo Helbig examines in his Intellectual disability study include Autism, Human genetics and Global developmental delay.
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer.
Nucleic Acids Research (2014)
The Human Phenotype Ontology in 2017
Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster.
Nucleic Acids Research (2017)
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Ingo Helbig;Heather C. Mefford;Andrew J. Sharp;Michel Guipponi.
Nature Genetics (2009)
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
Heather C. Mefford;Hiltrud Muhle;Philipp Ostertag;Sarah von Spiczak.
PLOS Genetics (2010)
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
Carolien G F De Kovel;Holger Trucks;Ingo Helbig;Heather C. Mefford.
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R Lemke;Dennis Lal;Eva M Reinthaler;Isabelle Steiner.
Nature Genetics (2013)
Navigating the channels and beyond: unravelling the genetics of the epilepsies.
Ingo Helbig;Ingrid E Scheffer;Ingrid E Scheffer;John C Mulley;Samuel F Berkovic.
Lancet Neurology (2008)
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada.
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Leanne M. Dibbens;Saul Mullen;Ingo Helbig;Heather C. Mefford.
Human Molecular Genetics (2009)
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
Gemma L Carvill;Sarah Weckhuysen;Sarah Weckhuysen;Jacinta M McMahon;Corinna Hartmann;Corinna Hartmann.
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