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H. Onay · SciRah

Researcher profile · Semantic Scholar

H. Onay

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H. Onay — researcher profile on SciRah

h-index: 30
Works: 287
Citations: 3,154

Most-cited papers

Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice.
A. Rashnonejad, Gholamhossein Amini Chermahini, C. Gündüz, H. Onay +6 more
2019Molecular Therapy53 citations Open access
Semantic Scholar
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
F. Pelletier, S. Perrier, F. Cayami, A. Mirchi +115 more
2020Journal of Clinical Endocrinology and Metabolism43 citations Open access
Semantic Scholar
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics
A. Aykut, S. Özen, D. Gökşen, Aysun Ata +4 more
2020European Journal of Pediatrics37 citations Open access
Semantic Scholar
Single center experience of biotinidase deficiency: 259 patients and six novel mutations
E. Canda, Havva Yazıcı, Esra Er, M. Kose +6 more
2018Journal of Pediatric Endocrinology & Metabolism (JPEM)37 citations
Semantic Scholar
DSM outcomes of psychotic experiences and associated risk factors: 6-year follow-up study in a community-based sample
U. Kırlı, T. Binbay, M. Drukker, H. Elbi +6 more
2018Psychological Medicine37 citations
Semantic Scholar
Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective
F. Ezgü, E. Alpsoy, Zerrin Bicik Bahçebaşı, O. Kasapcopur +5 more
2022Orphanet Journal of Rare Diseases36 citations Open access
Semantic Scholar
Variation in the Oxytocin Receptor Gene Is Associated With Social Cognition and ADHD
Tugba Kalyoncu, B. Özbaran, S. Köse, H. Onay
2019Journal of Attention Disorders31 citations
Semantic Scholar
Renal Complications of Lipodystrophy: a closer look at the natural history of kidney disease
B. Akıncı, S. Unlu, A. Çelik, I. Şimşir +26 more
2018Clinical Endocrinology26 citations Open access
Semantic Scholar
A Large Cohort of Disorders of Sex Development and Their Genetic Characteristics: 6 Novel Mutations in Known Genes.
Aysun Ata, S. Özen, H. Onay, S. Uzun +5 more
2021European Journal of Medical Genetics25 citations
Semantic Scholar
Genetic factors associated with the predisposition to late onset Alzheimer's disease.
A. Durmaz, E. Kumral, B. Durmaz, H. Onay +5 more
2019Gene25 citations
Semantic Scholar
Aromatase Deficiency due to a Novel Mutation in CYP19A1 Gene
Edip Unal, Ruken Yıldırım, F. Taş, V. Demir +2 more
2018Journal of Clinical Research in Pediatric Endocrinology22 citations Open access
Semantic Scholar
Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations
T. Atik, Esra Işık, H. Onay, B. Akgun +19 more
2020Turkish journal of haematology : official journal of Turkish Society of Haematology21 citations Open access
Semantic Scholar
Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations.
A. Aykut, E. Karaca, H. Onay, D. Gökşen +12 more
2018Gene20 citations
Semantic Scholar
The oxytocin receptor gene polymorphism -rs237902- is associated with the severity of autism spectrum disorder: A pilot study.
F. T. Ocakoğlu, S. Köse, B. Özbaran, H. Onay
2018Asian Journal of Psychiatry20 citations
Semantic Scholar
Homozygous c.130–131 ins A (pW44X) mutation in the HAX1 gene as the most common cause of congenital neutropenia in Turkey: Report from the Turkish Severe Congenital Neutropenia Registry
Deniz Yılmaz Karapınar, T. Patiroglu, A. Meti̇n, Ümran Çalışkan +34 more
2019Pediatric Blood & Cancer19 citations Open access
Semantic Scholar
A Novel Mutation of AMHR2 in Two Siblings with Persistent Müllerian Duct Syndrome
Edip Unal, Ruken Yıldırım, Suat Tekin, V. Demir +2 more
2018Journal of Clinical Research in Pediatric Endocrinology19 citations Open access
Semantic Scholar
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
M. Dundar, U. Fahrioğlu, S. Yıldız, Burcu Bakir-Gungor +178 more
2022Functional & Integrative Genomics18 citations Open access
Semantic Scholar
Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey
M. Kose, Engin Kose, A. Ünalp, Ünsal Yılmaz +7 more
2021Neurological Sciences18 citations
Semantic Scholar
Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novel NAGLU gene mutations
F. Ozkinay, D. Emecen, M. Kose, E. Işik +6 more
2021Molecular Genetics and Metabolism Reports17 citations Open access
Semantic Scholar
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis
I. Yıldırım Şimşir, B. Tuysuz, M. Ozbek, S. Tanrikulu +28 more
2023Diabetes, obesity and metabolism16 citations Open access
Semantic Scholar
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum
M. Kose, Esra Işık, A. Aykut, A. Durmaz +13 more
2021Journal of Pediatric Endocrinology & Metabolism (JPEM)15 citations
Semantic Scholar
Tetrahydrobiopterin deficiencies: Lesson from clinical experience
A. E. Bozacı, Esra Er, Havva Yazıcı, E. Canda +7 more
2021JIMD Reports15 citations Open access
Semantic Scholar
Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4.
N. Güneş, T. Kutlu, G. Tekant, A. G. Eroğlu +4 more
2019European Journal of Medical Genetics14 citations
Semantic Scholar
UNUSUAL PRESENTATIONS OF LMNA-ASSOCIATED LIPODYSTROPHY WITH COMPLEX PHENOTYPES AND GENERALIZED FAT LOSS: WHEN THE GENETIC DIAGNOSIS UNCOVERS NOVEL FEATURES.
Natalia Xavier S. de Andrade, S. C. Adiyaman, B. Yuksel, Carla T Ferrari +13 more
2020AACE Clinical Case Reports13 citations Open access
Semantic Scholar
Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE.
A. Abedi, I. Yıldırım Şimşir, Fahri Bayram, H. Onay +4 more
2023Türk Kardiyoloji Derneği arşivi : Türk Kardiyoloji Derneğinin yayın organıdır12 citations Open access
Semantic Scholar
Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.
Esra Işık, H. Onay, T. Atik, E. Canda +3 more
2019European Journal of Medical Genetics12 citations
Semantic Scholar
Aromatase Deficiency in Two Siblings with 46,XX Karyotype Raised as Different Genders: A Novel Mutation (p.R115X) in the CYP19A1 Gene
S. Özen, T. Atik, Özlem Korkmaz, H. Onay +4 more
2020Journal of Clinical Research in Pediatric Endocrinology11 citations Open access
Semantic Scholar
Clinical Contribution of Next-Generation Sequencing Multigene Panel Testing for BRCA Negative High-Risk Patients With Breast Cancer.
Aslı Ece Solmaz, L. Yeniay, E. Gokmen, O. Zekioğlu +4 more
2021Clinical Breast Cancer10 citations
Semantic Scholar
The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye
V. Oktay, Omaç Tüfekçioğlu, D. Yılmaz, E. Onrat +33 more
2023Anatolian journal of cardiology9 citations Open access
Semantic Scholar
Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants.
Aslı Ece Solmaz, Esra Işık, T. Atik, F. Ozkinay +1 more
2021Clinical neurology and neurosurgery (Dutch-Flemish ed. Print)9 citations
Semantic Scholar
Cascade screening and treatment of children with familial hypercholesterolemia in Turkey
Engin Kose, M. Kose, Sureyya Ipek Ozturk, Esra Ozcan +2 more
2020Journal of Pediatric Endocrinology & Metabolism (JPEM)9 citations Open access
Semantic Scholar
Investigation of drug resistance against protease, reverse transcriptase, and integrase inhibitors by next‐generation sequencing in HIV‐positive patients
D. Tekin, D. Gokengin, H. Onay, S. Erensoy +1 more
2020Journal of Medical Virology9 citations
Semantic Scholar
Investigation of the molecular genetic causes of non-syndromic primary ovarian ınsufficiency by next generation sequencing analysis
Eren Er, S. Aşıkovalı, Hatice Özışık, Elif Sağsak +5 more
2023Archives of Endocrinology and Metabolism8 citations Open access
Semantic Scholar
The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies
Esra Işık, S. Yılmaz, T. Atik, G. Aktan +3 more
2020Neurological Sciences8 citations
Semantic Scholar
Izmir Mental Health Cohort for Gene-Environment Interaction in Psychosis (TürkSch): Assessment of the Extended and Transdiagnostic Psychosis Phenotype and Analysis of Attrition in a 6-Year Follow-Up of a Community-Based Sample
U. Kırlı, T. Binbay, H. Elbi, M. Drukker +5 more
2019Frontiers in Psychiatry8 citations Open access
Semantic Scholar
Gastrointestinal findings in 26 adults with common variable immunodeficiency: The fickle nature of the disease manifests in gastrointestinal biopsies.
B. Pehlivanoğlu, Ö. Ardeniz, H. Hassoy, M. Sezak +4 more
2019The Turkish Journal of Gastroenterology8 citations Open access
Semantic Scholar
Prevalence of congenital sucrase-isomaltase deficiency in Turkey may be much higher than the estimates
Didem Gülcü Taşkın, H. Civan, E. Sarı, C. Altuntaş +4 more
2023Journal Genetika7 citations
Semantic Scholar
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes
H. Bolat, S. Sager, A. Türkyılmaz, A. Çebi +4 more
2022Molecular Syndromology7 citations Open access
Semantic Scholar
Psychiatric view for disorders of sex development: a 12-year experience of a multidisciplinary team in a university hospital
Birsen Şentürk Pilan, B. Özbaran, D. Çelik, Tuğçe Özcan +9 more
2020Journal of Pediatric Endocrinology & Metabolism (JPEM)7 citations
Semantic Scholar
Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development
Birsen Şentürk Pilan, B. Özbaran, D. Çelik, Tuğçe Özcan +9 more
2020Journal of Clinical Research in Pediatric Endocrinology7 citations Open access
Semantic Scholar
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia
Esra Işık, H. Onay, T. Atik, A. Solmaz +4 more
2020Journal of Clinical Research in Pediatric Endocrinology6 citations Open access
Semantic Scholar
Coexistence of Gaucher Disease and severe congenital neutropenia.
M. Kose, E. Canda, Mehtap Kağnıcı, S. K. Uçar +5 more
2019Blood Cells, Molecules & Diseases6 citations
Semantic Scholar
Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death
L. Olcay, Ş. Ünal, H. Onay, E. Erdemli +10 more
2018Turkish journal of haematology : official journal of Turkish Society of Haematology6 citations Open access
Semantic Scholar
Management of a Patient With Congenital Biallelic CSF3R Mutation With GM-CSF.
Deniz Yılmaz Karapınar, H. H. Özdemir, B. Akıncı, Akkız Şahin Yaşar +3 more
2018Journal of pediatric hematology/oncology6 citations
Semantic Scholar
Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy
U. Soyaltin, I. Şimşir, B. Akıncı, C. Altay +4 more
2020Clinical Diabetes and Endocrinology5 citations Open access
Semantic Scholar
BRCA1-BRCA2 mutation analysis results in 910 individuals: Mutation distribution and 8 novel mutations.
A. Solmaz, H. Onay, L. Yeniay, E. Gokmen +6 more
2020Cancer Genetics5 citations
Semantic Scholar
Clinical and molecular aspects of PTEN mutations in 10 pediatric patients
Esra Işık, O. S. Simsir, A. Solmaz, H. Onay +5 more
2020Annals of Human Genetics5 citations
Semantic Scholar
Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey
Melis Köse, Engin Köse, Mehtap Kağnıcı, Hande Gazeteci Tekin +6 more
2020Journal of Dr Behcet Uz Children s Hospital5 citations Open access
Semantic Scholar
Novel homozygous variants in the SERPING1 gene in two Turkish families with hereditary angioedema of recessive inheritance
Nihal Mete Gökmen, César Rodríguez-Alcalde, O. Gülbahar, M. López-Trascasa +2 more
2020Immunology and Cell Biology5 citations
Semantic Scholar
A hereditary angioedema screening in two villages, based on an index case, and identification of a novel mutation, “1033G>T”, at the SERPING1 gene
M. Ozkars, O. Keskin, N. Bayram, H. Onay +5 more
2019Advances in Dermatology and Allergology5 citations Open access
Semantic Scholar

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