# Huda Y. Zoghbi

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/huda-y-zoghbi/

## Facts

| Field | Value |
| --- | --- |
| Citations | 73,820 |
| Field | Genetics and Neurodevelopmental Disorders |
| h-index | 136 |
| i10-index | 383 |
| Last Known Institution | Howard Hughes Medical Institute |
| OpenAlex ID | https://openalex.org/A5020701219 |
| ORCID iD | https://orcid.org/0000-0002-0700-3349 |
| Works | 570 |

## Researcher papers

- [Specific mutations in <i>Methyl-CpG-Binding Protein 2</i> confer different severity in Rett syndrome](https://scholariq.org/papers/specific-mutations-in-i-methyl-cpg-binding-protein-2-i-confer-different-severity/)
- [Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes](https://scholariq.org/papers/influence-of-mutation-type-and-x-chromosome-inactivation-on-rett-syndrome/)
- [Autism and other neuropsychiatric symptoms are prevalent in individuals with <i>MeCP2</i> duplication syndrome](https://scholariq.org/papers/autism-and-other-neuropsychiatric-symptoms-are-prevalent-in-individuals-with-i/)
- [Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males](https://scholariq.org/papers/increased-mecp2-gene-copy-number-as-the-result-of-genomic-duplication-in/)
- [Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome](https://scholariq.org/papers/inverted-genomic-segments-and-complex-triplication-rearrangements-are-mediated/)
- [Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans](https://scholariq.org/papers/disruption-of-the-atxn1-cic-complex-causes-a-spectrum-of-neurobehavioral/)

## Researcher topics

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Genetic Neurodegenerative Diseases](https://scholariq.org/topics/genetic-neurodegenerative-diseases/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Autism Spectrum Disorder Research](https://scholariq.org/topics/autism-spectrum-disorder-research/)
- [Ubiquitin and proteasome pathways](https://scholariq.org/topics/ubiquitin-and-proteasome-pathways-2/)

## Researcher university

- [Howard Hughes Medical Institute](https://scholariq.org/institutions/howard-hughes-medical-institute/)

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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.