# Beyhan Tüysüz

**Type:** Researchers  
**Canonical URL:** https://scholariq.org/researchers/beyhan-tuysuz/

## Facts

| Field | Value |
| --- | --- |
| Citations | 7,745 |
| Field | Connective tissue disorders research |
| h-index | 44 |
| i10-index | 105 |
| Last Known Institution | Istanbul University-Cerrahpaşa |
| OpenAlex ID | https://openalex.org/A5051177902 |
| ORCID iD | 0000-0002-9620-5021 |
| Works | 258 |

## Researcher papers

- [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/)
- [The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy](https://scholariq.org/papers/the-gene-encoding-gigaxonin-a-new-member-of-the-cytoskeletal-btb-kelch-repeat/)
- [IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy](https://scholariq.org/papers/ift80-which-encodes-a-conserved-intraflagellar-transport-protein-is-mutated-in/)
- [Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2](https://scholariq.org/papers/recessive-robinow-syndrome-allelic-to-dominant-brachydactyly-type-b-is-caused-by/)
- [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/)
- [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/)
- [Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans](https://scholariq.org/papers/defects-in-the-ift-b-component-ift172-cause-jeune-and-mainzer-saldino-syndromes/)
- [CEP152 is a genome maintenance protein disrupted in Seckel syndrome](https://scholariq.org/papers/cep152-is-a-genome-maintenance-protein-disrupted-in-seckel-syndrome/)
- [Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients](https://scholariq.org/papers/coffin-siris-syndrome-and-the-baf-complex-genotype-phenotype-study-in-63/)
- [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/)
- [The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120](https://scholariq.org/papers/the-molecular-spectrum-of-turkish-osteopetrosis-and-related-osteoclast-disorders/)

## Researcher topics

- [Connective tissue disorders research](https://scholariq.org/topics/connective-tissue-disorders-research/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Genetic Syndromes and Imprinting](https://scholariq.org/topics/genetic-syndromes-and-imprinting/)
- [Neurogenetic and Muscular Disorders Research](https://scholariq.org/topics/neurogenetic-and-muscular-disorders-research/)
- [Dermatological and Skeletal Disorders](https://scholariq.org/topics/dermatological-and-skeletal-disorders/)

## Researcher university

- [Istanbul University-Cerrahpaşa](https://scholariq.org/institutions/istanbul-university-cerrahpasa/)

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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.