# Brian J. O’Roak

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/brian-j-o-roak/

## Facts

| Field | Value |
| --- | --- |
| Citations | 29,672 |
| Field | Genetics and Neurodevelopmental Disorders |
| h-index | 50 |
| i10-index | 67 |
| Last Known Institution | Oregon Health & Science University |
| OpenAlex ID | https://openalex.org/A5078218872 |
| ORCID iD | https://orcid.org/0000-0002-4141-0095 |
| Works | 94 |

## Researcher papers

- [Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism](https://scholariq.org/papers/multiple-recurrent-de-novo-cnvs-including-duplications-of-the-7q11-23-williams/)
- [Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes](https://scholariq.org/papers/integrating-de-novo-and-inherited-variants-in-42-607-autism-cases-identifies/)
- [Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity](https://scholariq.org/papers/joubert-syndrome-a-model-for-untangling-recessive-disorders-with-extreme-genetic/)

## Researcher topics

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Autism Spectrum Disorder Research](https://scholariq.org/topics/autism-spectrum-disorder-research/)
- [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/)
- [Congenital heart defects research](https://scholariq.org/topics/congenital-heart-defects-research/)

## Researcher university

- [Oregon Health & Science University](https://scholariq.org/institutions/oregon-health-and-science-university/)

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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.