Scientific work

Uzm. Dr. Özgür Kırbıyık

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

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  1. Clinical and Genetic Heterogeneity of Congenital Myasthenic Syndromes: Insights From a Large Cohort

    Neurology and Clinical Neuroscience, 2026

    DOI 10.1111/ncn3.70057 Open-access full textSource: ORCID

  2. Symptom-based classification of 16p11.2 copy number variations underlying the multidimensional autism spectrum disorder phenotype using machine learning methods

    Research in Autism, 2026

    DOI 10.1016/j.reia.2026.202865 Open-access full textSource: OpenAlex

  3. Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single‐Center Experience

    Annals of Human Genetics, 2026

    DOI 10.1111/ahg.70028 PMID 41084934 Source: ORCID

  4. Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population

    Familial Cancer, 2026

    DOI 10.1007/s10689-026-00577-w PMID 42258060 1 citation (Europe PMC) Source: ORCID

  5. Genotype–phenotype correlations in children with short stature: results of targeted next-generation sequencing

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2026-0267 PMID 42446396 Source: ORCID

  6. Atypical Presentation and Course of ACTH-Independent Cushing’s Syndrome in Two Families

    Journal of clinical research in pediatric endocrinology, 2026

    DOI 10.4274/jcrpe.galenos.2023.2023-9-15 PMID 38084047 Open-access full textSource: Europe PMC

  7. Cordocentesis for Rapid Cytogenetic Diagnosis: A Retrospective Cohort Study of 160 Cases Cytogenetic Diagnosis by Cordocentesis: Retrospective Analysis

    Southern Clinics of Istanbul Eurasia, 2026

    DOI 10.14744/scie.2026.80378 Open-access full textSource: OpenAlex

  8. Expanding the reproductive spectrum of congenital leptin deficiency: Spontaneous pregnancies and long-term metreleptin therapy in two siblings with a candidate novel LEP variant

    Obesity Research & Clinical Practice, 2026

    DOI 10.1016/j.orcp.2026.10.002 PMID 42855325 Source: OpenAlex

  9. FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI

    Journal of Clinical Research in Pediatric Endocrinology, 2025

    DOI 10.4274/jcrpe.galenos.2025.2025-8-4 PMID 41243835 Open-access full textSource: OpenAlex

  10. Prenatal Diagnosis of HSPG2-Related Dyssegmental Dysplasia: The First Report From Turkey

    American Journal of Medical Genetics Part A, 2025

    DOI 10.1002/ajmg.a.64152 PMID 40503612 Source: ORCID

  11. Comparison of prognosis between epidermal growth factor mutation positive and negative groups in lung adenocarcinoma patients with brain metastases

    The Egyptian Journal of Bronchology, 2025

    DOI 10.1186/s43168-025-00374-6 2 citations (OpenAlex) Open-access full textSource: ORCID

  12. O-06 CUSHING’S SYNDROME DUE TO BILATERAL IMMUNHISTOCHEMICALLY-PROVEN ACTH POSITIVE ADRENAL NEOPLASMS

    JCEM Case Reports, 2025

    DOI 10.1210/jcemcr/luae218.002 Open-access full textSource: OpenAlex

  13. Association of extra-thyroidal abnormalities and genetic variants in congenital hypothyroidism: a single-centre study

    Endocrine Abstracts, 2025

    DOI 10.1530/endoabs.110.p1138 Source: OpenAlex

  14. Retrospective evaluation of the phenotypic-genotypic characteristics of patients with short stature who underwent next-generation sequencing analysis

    Endocrine Abstracts, 2025

    DOI 10.1530/endoabs.110.p587 Source: OpenAlex

  15. Türk Popülasyonunda MMP2 ve MMP9 Değişimlerinin Spontan Abortus Etiyolojisindeki Rolü

    Ege Tıp Dergisi, 2024

    DOI 10.19161/etd.1262494 Open-access full textSource: ORCID

  16. Anaemia‐based screening for resistance to thyroid hormone alpha in children

    Clinical Endocrinology, 2024

    DOI 10.1111/cen.15007 PMID 38148509 1 citation (Europe PMC) Open-access full textSource: ORCID

  17. OBSESSIVE COMPULSIVE DISORDER AND CONSTITUTIONAL DELAY OF GROWTH AND PUBERTY IN WOLFRAM SYNDROME: NEW ASPECTS AND A NOVEL WFS1 MUTATION

    Acta Endocrinology, 2024

    DOI 10.4183/aeb.2024.107 PMID 39372310 Open-access full textSource: ORCID

  18. Investigation of EGFR and ALK mutation frequency and treatment results in advanced non-small cell lung cancer

    Journal of Cancer Research and Therapeutics, 2023

    DOI 10.4103/jcrt.jcrt_1766_20 PMID 37147996 7 citations (OpenAlex) Open-access full textSource: OpenAlex

  19. Resistance to thyroid hormone alpha: molecular, biochemical and physiological approach to diagnosis and therapy

    Endocrine Abstracts, 2022

    DOI 10.1530/endoabs.84.op-08-37 Source: OpenAlex

  20. MKRN3 Gene Mutation in a Case of Familial Central Precocious Puberty

    Güncel Pediatri, 2022

    DOI 10.4274/jcp.2022.02439 Open-access full textSource: OpenAlex

  21. Spinal muscular atrophy with respiratory distress type 1 (SMARD1): A rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants

    Turkish Journal of Pediatrics, 2022

    DOI 10.24953/turkjped.2020.2012 PMID 35611426 5 citations (Europe PMC) Open-access full textSource: ORCID

  22. Experiences in the molecular genetic and histopathological evaluation of calpainopathies

    Neurogenetics, 2022

    DOI 10.1007/s10048-022-00687-4 PMID 35157181 5 citations (Europe PMC) Source: ORCID

  23. ALK, ROS1 and EGFR status of lung cancers in the Aegean Region of Turkey

    Indian journal of pathology & microbiology, 2022

    DOI 10.4103/ijpm.ijpm_1129_20 PMID 35435363 4 citations (Europe PMC) Open-access full textSource: ORCID

  24. Neonatal classic galactosemia—diagnosis, clinical profile and molecular characteristics in unscreened Turkish population

    Journal of Tropical Pediatrics, 2022

    DOI 10.1093/tropej/fmac098 PMID 36375035 7 citations (OpenAlex) Open-access full textSource: OpenAlex

  25. Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase gene

    HORMONES, 2021

    DOI 10.1007/s42000-021-00330-1 PMID 34697762 3 citations (Europe PMC) Source: OpenAlex

  26. The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis

    The clinical respiratory journal, 2021

    DOI 10.1111/crj.13284 PMID 32981210 Source: Europe PMC

  27. Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey

    Journal of Dr Behcet Uz Children s Hospital, 2020

    DOI 10.5222/buchd.2020.09471 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  28. Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia

    The Turkish Journal of Pediatrics, 2020

    DOI 10.24953/turkjped.2020.03.019 PMID 32558426 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  29. A Case of Late-onset Hyperinsulinemic Hypoglycemia: HNF4A Mutation

    The Journal of Pediatric Research, 2020

    DOI 10.4274/jpr.galenos.2019.36034 1 citation (OpenAlex) Open-access full textSource: ORCID

  30. Evaluation of chromosomal abnormalities and Y-chromosome microdeletions in 1696 Turkish cases with primary male infertility: A single-center study

    Urology Research and Practice, 2020

    DOI 10.5152/tud.2019.19156 PMID 32125967 4 citations (Europe PMC) Open-access full textSource: ORCID

  31. The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci

    Journal of Pediatric Genetics, 2020

    DOI 10.1055/s-0039-1698420 PMID 31976138 3 citations (Europe PMC) Open-access full textSource: ORCID

  32. JAK2V617F , CALR, and MPL515L/K Mutations and Plateletcrit in Essential Thrombocythemia: ASingle Centre's Experience

    International Journal of Clinical Practice, 2020

    DOI 10.1111/ijcp.13834 PMID 33202112 2 citations (Europe PMC) Open-access full textSource: ORCID

  33. Genetic Knowledge of Colorectal Cancer

    Colon Polyps and Colorectal Cancer, 2020

    DOI 10.1007/978-3-030-57273-0_24 2 citations (OpenAlex) Source: ORCID

  34. MKRN3 Gene Mutation in a Case of Familial Central Precocious Puberty

    58th Annual ESPE Meeting (ESPE 2019), 2019

    1 citation (OpenAlex) Source: OpenAlex

  35. A Case of Late-Onset Monogenic Diabetes Due to a Homozygous Variant in the GCK Gene

    58th Annual ESPE Meeting (ESPE 2019), 2019

    Source: OpenAlex

  36. Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages.

    Cytogenetic and genome research, 2019

    DOI 10.1159/000500986 PMID 31195399 Source: ORCID

  37. Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies

    Annals of Human Genetics, 2019

    DOI 10.1111/ahg.12319 PMID 31066050 32 citations (OpenAlex) Source: OpenAlex

  38. The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations

    Pediatric Neurology, 2019

    DOI 10.1016/j.pediatrneurol.2019.04.021 PMID 31201073 21 citations (OpenAlex) Source: OpenAlex

  39. Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: Single center study

    Molecular Genetics & Genomic Medicine, 2019

    DOI 10.1002/mgg3.678 PMID 31070015 9 citations (Europe PMC) Open-access full textSource: ORCID

  40. A rare cause of primer adrenal insufficiency: NROB1 (DAX1) mutation

    Hormone Research in Paediatrics, 2019

    Source: ORCID

  41. First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss

    Turkish Archives of Otorhinolaryngology, 2019

    DOI 10.5152/tao.2019.4320 PMID 31620696 2 citations (Europe PMC) Open-access full textSource: ORCID

  42. Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes

    International Journal of Immunogenetics, 2019

    DOI 10.1111/iji.12431 PMID 31135083 6 citations (Europe PMC) Source: ORCID

  43. cfDNA in exhaled breath condensate (EBC) and contamination by ambient air: toward volatile biopsies

    Journal of Breath Research, 2019

    DOI 10.1088/1752-7163/ab17ff PMID 30970343 7 citations (Europe PMC) Source: ORCID

  44. Heterozygous Beta Chain Variant Hemoglobin Pusan: A Rare Case Report in Turkish Population

    Medeniyet Medical Journal, 2019

    DOI 10.5222/mmj.2019.10476 PMID 32821467 Open-access full textSource: ORCID

  45. A novel COL4A4 gene variant (c.1856G>A): from a focal segmental glomerulosclerosis case to a family with Alport syndrome

    DOAJ (DOAJ: Directory of Open Access Journals), 2019

    Source: OpenAlex

  46. Genotype–phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey

    Journal of Endocrinological Investigation, 2018

    DOI 10.1007/s40618-018-0940-y PMID 30132287 21 citations (Europe PMC) Open-access full textSource: OpenAlex

  47. Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)

    Journal of Pediatric Endocrinology and Metabolism, 2018

    DOI 10.1515/jpem-2018-0184 PMID 30447144 25 citations (Europe PMC) Source: OpenAlex

  48. A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy

    Thyroid, 2018

    DOI 10.1089/thy.2018.0015 PMID 29882503 24 citations (Europe PMC) Open-access full textSource: OpenAlex

  49. Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report

    Archivos Argentinos de Pediatria, 2018

    DOI 10.5546/aap.2018.eng.e130 PMID 29333838 11 citations (OpenAlex) Open-access full textSource: OpenAlex

  50. Fetal HLA-G alleles and their effect on miscarriage

    Advances in Clinical and Experimental Medicine, 2018

    DOI 10.17219/acem/69692 PMID 29809322 6 citations (Europe PMC) Open-access full textSource: ORCID