Hülya Kayserili - Genetic Mutations

Author Information

Hülya Kayserili is a distinguished researcher affiliated with the Medical Genetics Department at Koç University School of Medicine (KUSoM) in Istanbul, Turkey. Her research primarily focuses on the field of genetics, with an emphasis on identifying and understanding genetic mutations and their implications in various human diseases.

Research Contributions

Hülya Kayserili has made significant contributions to the field of genetics through her extensive research on genetic mutations and their associated phenotypes. In 2022, she has co-authored several notable papers, including studies on OTUD6B mutation related to Tetralogy of Fallot, the phenotypic and mutational spectrum of ROR2-related Robinow syndrome, and the impact of RAF1 deficiency on human development. Her work also extends to conditions such as osteoporosis-pseudoglioma syndrome, distal arthrogryposis, Mazzanti syndrome, and more. Her research is pivotal in expanding the molecular understanding of these conditions, ultimately contributing to better diagnostic and therapeutic strategies.

Aliases

The author is also known by several aliases including Hülya Kayserili, H Kayserili, H. Kayserili, H\u03cblya Kayserili, and Hülya Kayserili.

Publication and Citation Metrics

Metric	Value
Citation Count	20,109
h-index	66
Paper Count	324

Publications:

A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot

DOI: 10.1159/000519557

Year: 2022

Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

DOI: 10.1002/humu.24375

Year: 2022

A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development

DOI: 10.1101/2022.02.20.22271260

Year: 2022

Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features

DOI: 10.1038/s41588-022-01013-2

Year: 2022

Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome.

DOI: 10.1002/ajmg.a.62742

Year: 2022

Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype

DOI: 10.1111/cge.14117

Year: 2022

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

DOI: 10.1093/hmg/ddac071

Year: 2022

Neurodevelopmental Defects: A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects (Adv. Sci. 5/2021)

DOI: 10.1002/ADVS.202170027

Year: 2021

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.

DOI: 10.1016/j.ajhg.2021.06.009

Year: 2021

DPP9 deficiency: an inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling

DOI: 10.1101/2021.01.31.21250067

Year: 2021

What is Hemoglobin Electrophoresis?

What Tools Are Used in Phylogenetic Analysis?

How Does UV Radiation Cause Genetic Mutations?

Can the body repair PAH-induced DNA damage?

What is a Mutation?

How does Radiation Cause Induced Mutations?

How Are Insertion Mutations Detected?

How is PCR Used to Detect Genetic Mutations?

What is Molecular Biology?

Are There Risks of Genetic Mutations in Sickle Cell Patients Using Hydroxyurea?

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