Beyhan Tuysuz - Genetic Mutations

Author Information

Beyhan Tuysuz is a distinguished researcher affiliated with the Department of Pediatrics, Division of Pediatric Genetics at Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey. Beyhan Tuysuz has made significant contributions in the field of genetics, particularly focusing on genetic disorders and their clinical manifestations.

Research Contributions

Beyhan Tuysuz has an extensive publication record that underscores their expertise in pediatric genetics. Some notable research contributions include the identification of novel genetic variants associated with various syndromes and disorders such as Cohen-like syndrome, Osteogenesis Imperfecta, and Bloom syndrome. Their work has also delved into the genetic underpinnings of congenital limb malformations and microcephaly, significantly advancing the understanding of these complex conditions.

Aliases

Beyhan Tuysuz is also known by the aliases B Tuysuz and B. Tuysuz in various publications and citations.

Publication and Citation Metrics

Metric	Value
Total Papers	55
Total Citations	2854
h-index	27
Recent Publications	9 (since 2019)

Publications:

Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.

DOI: 10.1038/s10038-022-01032-1

Year: 2022

Effects of Long-Term Pamidronate Treatment on Bone Density and Fracture Rate in 65 Osteogenesis Imperfecta Patients

DOI: 10.5152/TurkArchPediatr.2021.21077

Year: 2021

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome

DOI: 10.1111/cge.14105

Year: 2021

Two novel variants and follow-up findings in four children with Bloom syndrome from two families.

DOI: 10.1097/MCD.0000000000000391

Year: 2021

Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features

DOI: 10.1159/000517848

Year: 2021

Genome sequencing in families with congenital limb malformations

DOI: 10.1007/s00439-021-02295-y

Year: 2021

Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations

DOI: 10.1016/j.ymgmr.2021.100732

Year: 2021

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

DOI: 10.1093/brain/awaa085

Year: 2020

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

DOI: 10.1016/j.devcel.2019.10.009

Year: 2019

Ankle2, A Target of Zika Virus, Controls Asymmetric Cell Division of Neuroblasts and Uncovers a Novel Microcephaly Pathway

DOI: 10.1101/611384

Year: 2019

What Tools are Used to Analyze CNVs?

How Do Genetic Mutations Cause Cystic Fibrosis?

How do PAHs cause genetic mutations?

How is Sickle Cell Anemia Inherited?

What Are Some Diseases Caused by Nucleotide Mutations?

What Are the Health Implications of Benzene-Induced Genetic Mutations?

What Is the Significance of Synonymous Mutations in Evolution?

What are the Chances of Inheriting an Autosomal Recessive Disorder?

What are the Challenges in Cancer Genomics?

What are the Challenges in Populace Genomics?

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