# Ingo Helbig

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/ingo-helbig/

## Facts

| Field | Value |
| --- | --- |
| Citations | 20,726 |
| Field | Genomics and Rare Diseases |
| h-index | 74 |
| i10-index | 219 |
| Last Known Institution | Children's Hospital of Philadelphia |
| OpenAlex ID | https://openalex.org/A5102859760 |
| ORCID iD | https://orcid.org/0000-0001-8486-0558 |
| Works | 388 |

## Researcher papers

- [The Human Phenotype Ontology in 2017](https://scholariq.org/papers/the-human-phenotype-ontology-in-2017/)
- [Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders](https://scholariq.org/papers/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a/)
- [Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies](https://scholariq.org/papers/genome-wide-mega-analysis-identifies-16-loci-and-highlights-diverse-biological/)
- [Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes](https://scholariq.org/papers/mutations-in-grin2a-cause-idiopathic-focal-epilepsy-with-rolandic-spikes/)
- [The Human Phenotype Ontology in 2024: phenotypes around the world](https://scholariq.org/papers/the-human-phenotype-ontology-in-2024-phenotypes-around-the-world/)
- [Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy](https://scholariq.org/papers/diagnostic-exome-sequencing-provides-a-molecular-diagnosis-for-a-significant/)
- [De novo variants in neurodevelopmental disorders with epilepsy](https://scholariq.org/papers/de-novo-variants-in-neurodevelopmental-disorders-with-epilepsy/)
- [Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals](https://scholariq.org/papers/ultra-rare-genetic-variation-in-the-epilepsies-a-whole-exome-sequencing-study-of/)
- [Consensus on diagnosis and management of JME: From founder's observations to current trends](https://scholariq.org/papers/consensus-on-diagnosis-and-management-of-jme-from-founder-s-observations-to/)
- [Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32](https://scholariq.org/papers/genome-wide-association-analysis-of-genetic-generalized-epilepsies-implicates/)

## Researcher topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Epilepsy research and treatment](https://scholariq.org/topics/epilepsy-research-and-treatment/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Ion channel regulation and function](https://scholariq.org/topics/ion-channel-regulation-and-function/)

## Researcher university

- [Children's Hospital of Philadelphia](https://scholariq.org/institutions/children-s-hospital-of-philadelphia/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.