What is he best known for?
The fields of study he is best known for:
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.
His most cited work include:
- The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data (630 citations)
- The Human Phenotype Ontology in 2017 (471 citations)
- The Human Phenotype Ontology in 2017 (471 citations)
What are the main themes of his work throughout his whole career to date?
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
- Genetic testing that connect with fields like Disease,
- Idiopathic generalized epilepsy which is related to area like Pathology.
Ingo Helbig has researched Phenotype in several fields, including Encephalopathy and Genotype.
He most often published in these fields:
- Epilepsy (82.35%)
- Genetics (70.59%)
- Pediatrics (30.51%)
What were the highlights of his more recent work (between 2018-2021)?
- Epilepsy (82.35%)
- Genetics (70.59%)
- Phenotype (25.74%)
In recent papers he was focusing on the following fields of study:
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.
Between 2018 and 2021, his most popular works were:
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. (78 citations)
- Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (35 citations)
- Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2 (35 citations)
In his most recent research, the most cited papers focused on:
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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