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Ayça Aykut

Observed names: A Aykut, A. Aykut, AYKUT, AYÇA, Ayca Aykut, Aykut, Ayca, Aykut, Ayça, Ayça AYKUT
Institution: Ege University
ORCID: 0000-0002-1460-0053
Observed ORCID: 0000-0002-1460-0053
OpenAlex ID: A5086745207
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss
2015 · Tahir Atik, Huseyin Onay, et al. · PLoS ONE · 65
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Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice
2019 · Afrooz Rashnonejad, Gholamhossein Amini Chermahini, et al. · Molecular Therapy · 63
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A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
2013 · Esther Pohl, Ayca Aykut, et al. · Human Genetics · 60
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes
2015 · Asli Ece Solmaz, Huseyin Onay, et al. · European Journal of Medical Genetics · 46
Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics
2020 · Ayça Aykut, Samim Özen, et al. · European Journal of Pediatrics · 43
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A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism
2020 · Asude Durmaz, Ayça Aykut, et al. · Journal of Clinical Research in Pediatric Endocrinology · 34
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GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
2023 · Hellen Lesmann, Alexander Hustinx, et al. · medRxiv · 28
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Diagnostic Role of MicroRNA Expression Profile in the Prenatal Amniotic Fluid Samples of Pregnant Women with Down Syndrome
2017 · Emin Karaca, Ayça Aykut, et al. · Balkan Medical Journal · 26
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Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages
2018 · Necil Kutukculer, Ayca Aykut, et al. · Scandinavian Journal of Immunology · 23
Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping
2018 · Esra Isik, Ayca Aykut, et al. · European Journal of Medical Genetics · 22
Prenatal Evaluation of MicroRNA Expressions in Pregnancies with Down Syndrome
2016 · Biray Erturk, Emin Karaca, et al. · BioMed Research International · 22
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Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference
2021 · Necil Kutukculer, Ezgi Topyildiz, et al. · Clinical Case Reports · 21
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Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
2020 · Semra Gürsoy, Filiz Hazan, et al. · Journal of Clinical Research in Pediatric Endocrinology · 21
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Analysis of the GCK gene in 79 MODY type 2 patients: A multicenter Turkish study, mutation profile and description of twenty novel mutations
2017 · Ayça Aykut, Emin Karaca, et al. · Gene · 21
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum
2021 · Melis Kose, Esra Isik, et al. · Journal of Pediatric Endocrinology and Metabolism · 19
Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variant
2020 · Necil Kutukculer, Thomas Seeholzer, et al. · Journal of Allergy and Clinical Immunology · 19
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Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome
2018 · Sanem Eren Akarcan, Neslihan Edeer Karaca, et al. · JMM Case Reports · 19
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
2022 · Munis Dundar, Umut Fahrioglu, et al. · Functional & Integrative Genomics · 18
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey
2020 · Melis Kose, Ebru Canda, et al. · Molecular Genetics and Metabolism Reports · 18
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* Concordance in molecular genetic analysis of tumour tissue, plasma, and exhaled breath condensate samples from lung cancer patients
2020 · Aslı Tetik Vardarli, Levent Pelit, et al. · Journal of Breath Research · 18
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Rapid Prenatal Diagnosis of Common Aneuploidies in Amniotic Fluid Using Quantitative Fluorescent Polymerase Chain Reaction
2008 · Huseyin Onay, Timur Ugurlu, et al. · Gynecologic and Obstetric Investigation · 18
Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations
2016 · Tahir Atik, Ayca Aykut, et al. · The Indian Journal of Pediatrics · 16
LOXL1 gene analysis in Turkish patients with exfoliation glaucoma
2016 · Suzan Guven Yilmaz, Melis Palamar, et al. · International Ophthalmology · 15
Co-occurrences of polymorphic heterochromatin regions of chromosomes and effect on reproductive failure
2019 · Yasemin Karaca, Erhan Pariltay, et al. · Reproductive Biology · 14
Evaluation of the miRNA profiling and effectiveness of the propolis on B-cell acute lymphoblastic leukemia cell line
2016 · Ugur Cem Yilmaz, Bakiye Goker Bagca, et al. · Biomedicine & Pharmacotherapy · 14
Works count: 161
Citation count: 1,004
H-index: 18
I10-index: 32
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