# Heather C. Mefford

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/heather-c-mefford/

## Facts

| Field | Value |
| --- | --- |
| Citations | 24,050 |
| Field | Genomics and Rare Diseases |
| h-index | 73 |
| i10-index | 195 |
| Last Known Institution | St. Jude Children's Research Hospital |
| OpenAlex ID | https://openalex.org/A5033872267 |
| ORCID iD | https://orcid.org/0000-0001-7188-522X |
| Works | 394 |

## Researcher papers

- [SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)](https://scholariq.org/papers/sfari-gene-2-0-a-community-driven-knowledgebase-for-the-autism-spectrum/)
- [<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects](https://scholariq.org/papers/i-grin2b-i-encephalopathy-novel-findings-on-phenotype-variant-clustering/)
- [Ultra-rare genetic variation in common epilepsies: a case-control sequencing study](https://scholariq.org/papers/ultra-rare-genetic-variation-in-common-epilepsies-a-case-control-sequencing/)
- [Spectrum of <i>MLL2</i> (<i>ALR</i>) mutations in 110 cases of Kabuki syndrome](https://scholariq.org/papers/spectrum-of-i-mll2-i-i-alr-i-mutations-in-110-cases-of-kabuki-syndrome/)

## Researcher topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [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/)
- [Epilepsy research and treatment](https://scholariq.org/topics/epilepsy-research-and-treatment/)
- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)

## Researcher university

- [St. Jude Children's Research Hospital](https://scholariq.org/institutions/st-jude-children-s-research-hospital/)

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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.