# Kaya Bilgüvar

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/kaya-bilguvar/

## Facts

| Field | Value |
| --- | --- |
| Citations | 27,769 |
| Field | Genomics and Rare Diseases |
| h-index | 69 |
| i10-index | 137 |
| Last Known Institution | Yale Cancer Center |
| OpenAlex ID | https://openalex.org/A5055131358 |
| ORCID iD | https://orcid.org/0000-0002-7313-7652 |
| Works | 244 |

## Researcher papers

- [Autoantibodies against type I IFNs in patients with life-threatening COVID-19](https://scholariq.org/papers/autoantibodies-against-type-i-ifns-in-patients-with-life-threatening-covid-19/)
- [Inborn errors of type I IFN immunity in patients with life-threatening COVID-19](https://scholariq.org/papers/inborn-errors-of-type-i-ifn-immunity-in-patients-with-life-threatening-covid-19/)
- [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/)
- [Genomic Analysis of Non- <i>NF2</i> Meningiomas Reveals Mutations in <i>TRAF7</i> , <i>KLF4</i> , <i>AKT1</i> , and <i>SMO</i>](https://scholariq.org/papers/genomic-analysis-of-non-i-nf2-i-meningiomas-reveals-mutations-in-i-traf7-i-i/)
- [Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations](https://scholariq.org/papers/whole-exome-sequencing-identifies-recessive-wdr62-mutations-in-severe-brain/)
- [Integrated genomic characterization of IDH1-mutant glioma malignant progression](https://scholariq.org/papers/integrated-genomic-characterization-of-idh1-mutant-glioma-malignant-progression/)
- [CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration](https://scholariq.org/papers/clp1-founder-mutation-links-trna-splicing-and-maturation-to-cerebellar/)
- [Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration](https://scholariq.org/papers/recessive-loss-of-function-of-the-neuronal-ubiquitin-hydrolase-uchl1-leads-to/)
- [Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children](https://scholariq.org/papers/inborn-errors-of-oas-rnase-l-in-sars-cov-2-related-multisystem-inflammatory/)

## 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/)
- [Glioma Diagnosis and Treatment](https://scholariq.org/topics/glioma-diagnosis-and-treatment/)
- [SARS-CoV-2 and COVID-19 Research](https://scholariq.org/topics/sars-cov-2-and-covid-19-research/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)

## Researcher university

- [Yale Cancer Center](https://scholariq.org/institutions/yale-cancer-center/)

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