# John C. Mulley

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/john-c-mulley/

## Facts

| Field | Value |
| --- | --- |
| Citations | 24,937 |
| Field | Genetics and Neurodevelopmental Disorders |
| h-index | 81 |
| i10-index | 189 |
| Last Known Institution | UNSW Sydney |
| OpenAlex ID | https://openalex.org/A5040186683 |
| ORCID iD | https://orcid.org/0000-0003-1754-4461 |
| Works | 266 |

## Researcher papers

- [Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes](https://scholariq.org/papers/germline-mutations-in-the-extracellular-domains-of-the-55-kda-tnf-receptor-tnfr1/)
- [A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy](https://scholariq.org/papers/a-missense-mutation-in-the-neuronal-nicotinic-acetylcholine-receptor-4-subunit/)
- [Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B](https://scholariq.org/papers/febrile-seizures-and-generalized-epilepsy-associated-with-a-mutation-in-the-na/)
- [The spectrum of SCN1A-related infantile epileptic encephalopathies](https://scholariq.org/papers/the-spectrum-of-scn1a-related-infantile-epileptic-encephalopathies/)
- [<i>KCNQ2</i> encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy](https://scholariq.org/papers/i-kcnq2-i-encephalopathy-emerging-phenotype-of-a-neonatal-epileptic/)

## Researcher topics

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Epilepsy research and treatment](https://scholariq.org/topics/epilepsy-research-and-treatment/)
- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [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

- [UNSW Sydney](https://scholariq.org/institutions/unsw-sydney/)

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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.