Scientific work

Doç. Dr. Ahmet Yeşilyurt

65 publications. The source of the information is stated next to each publication.

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  1. Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

    The American Journal of Human Genetics, 2026

    DOI 10.1016/j.ajhg.2025.12.011 PMID 41544630 2 citations (Europe PMC) Open-access full textSource: OpenAlex

  2. MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

    The American Journal of Human Genetics, 2026

    DOI 10.1016/j.ajhg.2025.12.015 PMID 41570816 1 citation (Europe PMC) Open-access full textSource: OpenAlex

  3. De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities

    American Journal of Medical Genetics Part A, 2026

    DOI 10.1002/ajmg.a.70097 PMID 41804662 Source: OpenAlex

  4. Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence‐Farazi Cerebellar Ataxia Syndrome

    American Journal of Medical Genetics Part A, 2026

    DOI 10.1002/ajmg.a.70125 PMID 41821366 Source: OpenAlex

  5. Novel Compound Heterozygous Variants in SLC13A3 Associated With ARLIAK: A Case Report and Review of the Literature

    International Journal of Developmental Neuroscience, 2026

    DOI 10.1002/jdn.70174 PMID 42587386 Open-access full textSource: OpenAlex

  6. De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder

    Molecular Psychiatry, 2026

    DOI 10.1038/s41380-026-03877-w PMID 41415500 Source: OpenAlex

  7. Biallelic variants in CFAP20DC cause primary ciliary dyskinesia due to abnormal ciliary clearance

    American Journal of Respiratory and Critical Care Medicine, 2026

    DOI 10.1093/ajrccm/aamag524 PMID 42853647 Source: OpenAlex

  8. Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience

    Frontiers in Pediatrics, 2025

    DOI 10.3389/fped.2025.1471965 PMID 40083435 2 citations (Europe PMC) Open-access full textSource: OpenAlex

  9. Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

    The American Journal of Human Genetics, 2025

    DOI 10.1016/j.ajhg.2025.02.005 PMID 39417135 Source: OpenAlex

  10. EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

    The American Journal of Human Genetics, 2025

    DOI 10.1016/j.ajhg.2024.12.001 PMID 39753114 5 citations (Europe PMC) Open-access full textSource: OpenAlex

  11. Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum

    Balkan Medical Journal, 2025

    DOI 10.4274/balkanmedj.galenos.2025.2025-9-81 PMID 41320952 1 citation (Europe PMC) Open-access full textSource: OpenAlex

  12. Cobalamin J disorder in a teenage boy with recurrent abdominal pain attacks: A case report and literature review

    Molecular Syndromology, 2025

    DOI 10.1159/000544821 PMID 41378236 Open-access full textSource: OpenAlex

  13. A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum

    Molecular Syndromology, 2025

    DOI 10.1159/000547120 PMID 41064057 Open-access full textSource: OpenAlex

  14. CACNA1E Geninde Tanımlanan Yeni Bir Nonsens Varyant ve Hafif Klinik Fenotip ile İlişkisi: Olgu Sunumu

    Yüksek İhtisas Üniversitesi Sağlık Bilimleri Dergisi, 2025

    DOI 10.51261/yiu.2025.1822395 Source: OpenAlex

  15. Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

    Newcastle University ePrints (Newcastle Univesity), 2025

    DOI 10.25405/ncl.34525389 Source: OpenAlex

  16. Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

    Frontiers in Genetics, 2024

    DOI 10.3389/fgene.2024.1347474 PMID 38560291 7 citations (Europe PMC) Open-access full textSource: OpenAlex

  17. A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants

    Pediatric Neurology, 2024

    DOI 10.1016/j.pediatrneurol.2024.01.005 PMID 38301322 8 citations (Europe PMC) Source: OpenAlex

  18. A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene

    Molecular Syndromology, 2024

    DOI 10.1159/000536072 PMID 38841330 4 citations (Europe PMC) Open-access full textSource: OpenAlex

  19. A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis

    American Journal of Medical Genetics Part A, 2024

    DOI 10.1002/ajmg.a.63952 PMID 39687948 1 citation (Europe PMC) Open-access full textSource: OpenAlex

  20. Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer

    Frontiers in Genetics, 2023

    DOI 10.3389/fgene.2023.1052383 PMID 36896237 46 citations (Europe PMC) Open-access full textSource: OpenAlex

  21. Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly

    European Journal of Human Genetics, 2023

    DOI 10.1038/s41431-023-01461-2 PMID 37880421 11 citations (Europe PMC) Open-access full textSource: OpenAlex

  22. TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature

    Molecular Syndromology, 2023

    DOI 10.1159/000531439 PMID 38058760 7 citations (Europe PMC) Open-access full textSource: OpenAlex

  23. KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure

    Intractable & Rare Diseases Research, 2022

    DOI 10.5582/irdr.2022.01096 PMID 36457583 4 citations (Europe PMC) Open-access full textSource: OpenAlex

  24. Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement

    Brain and Development, 2021

    DOI 10.1016/j.braindev.2021.06.001 PMID 34147300 7 citations (Europe PMC) Source: OpenAlex

  25. Whole exome sequencing of consanguineous families of clinically diagnosed with neurodevelopmental disorders

    2020

    Source: OpenAlex

  26. Association of vitamin D receptor gene FokI and TaqI polymorphisms and risk of RDS

    The Journal of Maternal-Fetal & Neonatal Medicine, 2019

    DOI 10.1080/14767058.2019.1582629 PMID 30760068 3 citations (Europe PMC) Source: OpenAlex

  27. Efficacy of stem cell therapy in ambulatory and nonambulatory children with Duchenne muscular dystrophy – Phase I–II

    Degenerative Neurological and Neuromuscular Disease, 2018

    DOI 10.2147/dnnd.s170087 PMID 30498389 25 citations (Europe PMC) Open-access full textSource: OpenAlex

  28. Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus

    Hormone Research in Paediatrics, 2018

    DOI 10.1159/000494431 PMID 30481753 7 citations (Europe PMC) Source: OpenAlex

  29. The effect of phototherapy on sister chromatid exchange with different light density in newborn hyperbilirubinemia

    Türk Pediatri Arşivi, 2018

    DOI 10.5152/turkpediatriars.2017.5143 PMID 29483799 7 citations (Europe PMC) Open-access full textSource: OpenAlex

  30. Retinal and Choroidal Thickness in Adult Patients with Familial Mediterranean Fever

    Ophthalmic Epidemiology, 2017

    DOI 10.1080/09286586.2017.1294697 PMID 28319450 14 citations (Europe PMC) Source: OpenAlex

  31. Vitamin D status, serum lipid concentrations, and vitamin D receptor (VDR) gene polymorphisms in Familial Mediterranean fever

    Bosnian Journal of Basic Medical Sciences, 2017

    DOI 10.17305/bjbms.2017.2259 PMID 28926322 8 citations (Europe PMC) Open-access full textSource: OpenAlex

  32. Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

    PubMed Central, 2016

    PMID 27777502 15 citations (Europe PMC) Open-access full textSource: OpenAlex

  33. Pancreatic Beta Cell Purification by Flow Cytometer and a Modified Rat Pancreatic Islet Cell Isolation Method

    Niche Journal, 2016

    DOI 10.5152/niche.2015.216 Source: OpenAlex

  34. The association between the FTO gene and gestational diabetes mellitus

    Endocrine Abstracts, 2016

    DOI 10.1530/endoabs.41.ep447 Source: OpenAlex

  35. BRAFV600E Mutation, RET/PTC1 and PAX8-PPAR Gamma Rearrangements in Follicular Epithelium Derived Thyroid Lesions - Institutional Experience and Literature Review

    Balkan Medical Journal, 2015

    DOI 10.5152/balkanmedj.2015.15101 PMID 26167339 12 citations (Europe PMC) Open-access full textSource: OpenAlex

  36. Association Between Keratoconus and Familial Mediterranean Fever in Turkey

    Cornea, 2015

    DOI 10.1097/ico.0000000000000662 PMID 26509767 13 citations (Europe PMC) Source: OpenAlex

  37. Thyroid hormone resistance in two patients with papillary thyroid microcarcinoma and their BRAFV600E mutation status

    Archives of Endocrinology and Metabolism, 2015

    DOI 10.1590/2359-3997000000091 PMID 26331327 7 citations (Europe PMC) Open-access full textSource: OpenAlex

  38. Nonclassical Congenital Adrenal Hyperplasia and Pregnancy

    Case Reports in Endocrinology, 2015

    DOI 10.1155/2015/296924 PMID 26558116 2 citations (Europe PMC) Open-access full textSource: OpenAlex

  39. The effects of commonly used intravitreal steroids on proliferation index of ciliary body-derived mesenchymal stem cells: anin vitrostudy

    Cutaneous and Ocular Toxicology, 2015

    DOI 10.3109/15569527.2015.1011746 PMID 25714111 3 citations (Europe PMC) Source: OpenAlex

  40. Combined genetic mutations have remarkable effect on deep venous thrombosis and/or pulmonary embolism occurence

    Gene, 2013

    DOI 10.1016/j.gene.2013.11.019 PMID 24334115 17 citations (Europe PMC) Source: OpenAlex

  41. The effects of oral carvacrol treatment against H2O2induced injury on isolated pancreas islet cells of rats

    Islets, 2013

    DOI 10.4161/isl.25519 PMID 23817295 19 citations (Europe PMC) Source: OpenAlex

  42. 46,XX Male Syndrome

    Endocrinology research and practice., 2013

    DOI 10.4274/tjem.2064 5 citations (OpenAlex) Open-access full textSource: OpenAlex

  43. The Contralateral Extremity has Also Benefit from the Locally Administered Bone Marrow-Derived Mononuclear Cells and Cord Blood Serum in Diabetic Ischemic Wound Healing

    Stem Cell Reviews and Reports, 2013

    DOI 10.1007/s12015-013-9480-1 PMID 24158645 1 citation (Europe PMC) Source: OpenAlex

  44. OTX2 mutations contribute to the otocephaly-dysgnathia complex

    Journal of Medical Genetics, 2012

    DOI 10.1136/jmedgenet-2012-100892 PMID 22577225 47 citations (Europe PMC) Source: OpenAlex

  45. A retrospective analysis of amniocenteses performed for advanced maternal age and various other indications in Turkish women

    The Journal of Maternal-Fetal & Neonatal Medicine, 2012

    DOI 10.3109/14767058.2012.733756 PMID 23025698 4 citations (Europe PMC) Source: OpenAlex

  46. Association between Pre-Eclampsia and Inherited Thrombophilias

    Fetal and Pediatric Pathology, 2012

    DOI 10.3109/15513815.2012.721475 PMID 23002795 5 citations (Europe PMC) Source: OpenAlex

  47. Molecular diagnosis of autosomal recessive non-syndromic hearing losses

    Abant Medical Journal, 2012

    DOI 10.5505/abantmedj.2012.02486 Source: OpenAlex

  48. The protective effect of erdosteine on radiocontrast induced nephrotoxicity in rats

    Environmental Toxicology, 2011

    DOI 10.1002/tox.20691 PMID 21384492 8 citations (Europe PMC) Source: OpenAlex

  49. Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.

    PubMed, 2011

    PMID 21614986 3 citations (Europe PMC) Source: OpenAlex

  50. Squamous cell carcinoma of the vulva in a virgin patient with Turner syndrome

    Journal of Gynecologic Oncology, 2011

    DOI 10.3802/jgo.2011.22.3.211 PMID 21998766 1 citation (Europe PMC) Open-access full textSource: OpenAlex