Hüseyin Onay - Genetic Mutations

Author Information

Hüseyin Onay is affiliated with the Department of Medical Genetics at the MULTIGEN Genetic Diseases Evaluation Center in İzmir, Turkey. His work primarily revolves around the genetic basis of various diseases, with a strong emphasis on both clinical and molecular genetics.

Research Contributions

Hüseyin Onay has made significant contributions to the field of medical genetics, with a focus on the diagnosis and management of genetic diseases. His recent research includes studies on Fabry disease, MEFV gene variants, mitochondrial complex II deficiency, and mucopolysaccharidosis type I. He has also reported on a range of genetic conditions such as congenital neutropenia due to G6PC3 deficiency, lipemia retinalis, neuronal ceroid lipofuscinosis, early-onset severe obesity due to leptin gene mutations, tetrahydrobiopterin deficiencies, and the utility of next-generation sequencing technologies for diagnosing Mendelian mitochondrial diseases.

Aliases

H Onay, H. Onay, Hüseyin Onay, Hüseyin Onay

Publication and Citation Metrics

Metric	Value
Citation Count	2375
h-index	25
Paper Count	288

Publications:

Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective

DOI: 10.1186/s13023-022-02215-x

Year: 2022

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.

DOI: 10.1007/s10142-021-00819-3

Year: 2022

A novel bi-allelic variant in the SDHB gene causes a severe mitochondrial complex II deficiency: a case report

DOI: 10.1016/j.clineuro.2021.107039

Year: 2022

A Mortal Complication in a Case with Mucopolysaccharidosis type I Following Hematopoietic Stem Cell Transplantation: Pulmonary Haemorrhage

DOI: 10.5222/buchd.2021.26539

Year: 2021

Amyloidosis in a Patient With Congenital Neutropenia Because of G6PC3 Deficiency.

DOI: 10.1097/MPH.0000000000002237

Year: 2021

Lipemia Retinalis Diagnosed Incidentally After Laser Photocoagulation Treatment for Retinopathy of Prematurity

DOI: 10.4274/tjo.galenos.2021.50051

Year: 2021

Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey

DOI: 10.1007/s10072-021-05067-8

Year: 2021

Early-onset severe obesity due to homozygous p.R105W (c313C> T) mutation in leptin gene in Turkish siblings: Two cases reports

DOI: 10.1016/j.orcp.2021.11.001

Year: 2021

Tetrahydrobiopterin deficiencies: Lesson from clinical experience

DOI: 10.1002/jmd2.12199

Year: 2021

The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum

DOI: 10.1515/jpem-2020-0410

Year: 2021

What Are Some Examples of Gene Amplification in Disease?

How do TALENs work?

How Can We Protect Ourselves from Chemical Mutagens?

How Does Genetic Testing Help in Managing Cystic Fibrosis?

How are Genetic Mutations Identified?

Why is Karyotyping Important in the Context of Genetic Mutations?

How Does Hemoglobin Electrophoresis Work?

How do Genetic Mutations Lead to Cancer?

What Ethical Considerations are Associated with Biotechnology in Genetics?

Are There Any Risks Associated with Beneficial Mutations?

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