Scientific work

Doç. Dr. Altuğ Koç

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

Back to profile

  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. MCPH1 and DNA Damage Response Pathway Genes as Candidate Susceptibility Loci in Hereditary Breast Cancer

    Diagnostics, 2026

    DOI 10.3390/diagnostics16182967 PMID 42793752 Open-access full textSource: ORCID

  4. 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

  5. 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

  6. 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

  7. Investigation of Epidermal Growth Factor Receptor Pathway Related, Exosomal miRNAs in Non-Small Cell Lung Cancer Cases

    Journal of Basic and Clinical Health Sciences, 2025

    DOI 10.30621/jbachs.1595106 Open-access full textSource: ORCID

  8. Effects of VDR and CYP24A1 gene polymorphisms on the outcome of supraglottic larynx cancer.

    PubMed, 2024

    DOI 10.26355/eurrev_202403_35720 PMID 38567579 1 citation (Europe PMC) Source: OpenAlex

  9. Prognostic and predictive role of liquid biopsy in lung cancer patients

    Frontiers in Oncology, 2024

    DOI 10.3389/fonc.2023.1275525 PMID 38304031 3 citations (Europe PMC) Open-access full textSource: ORCID

  10. Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome

    Turkish Journal of Gastroenterology, 2024

    DOI 10.5152/tjg.2024.23262 PMID 39115133 2 citations (Europe PMC) Open-access full textSource: ORCID

  11. Imagawa-Matsumoto Syndrome: The First Case From Turkey

    Noropsikiyatri Arsivi, 2024

    DOI 10.29399/npa.28400 PMID 39258127 2 citations (Europe PMC) Open-access full textSource: ORCID

  12. New treatment alternatives for primary and metastatic colorectal cancer by an integrated transcriptome and network analyses

    Scientific Reports, 2024

    DOI 10.1038/s41598-024-59101-8 PMID 38627442 5 citations (Europe PMC) Open-access full textSource: ORCID

  13. Results of karyotype analysis and 22q11.2 (DiGeorge Syndrome critical region) deletion investigation in fetal cardiac system anomalies

    Aegean Journal of Obstetrics and Gynecology, 2023

    DOI 10.46328/aejog.v5i2.140 1 citation (OpenAlex) Open-access full textSource: ORCID

  14. Carrier Rates of Phenylketonuria, Biotinidase Deficiency and Cystic Fibrosis in Turkey,Türkiye’de Fenilketonüri, Biotinidaz Eksikliği ve Kistik Fibrozis Taşıyıcı Oranları

    Gazi Medical Journal, 2023

    DOI 10.12996/gmj.2023.85 Open-access full textSource: ORCID

  15. The effect of progesterone supplementation in women with threatened miscarriage on fetal fraction in non-invasive prenatal testing: A matched case-control study

    Journal of Gynecology Obstetrics and Human Reproduction, 2023

    DOI 10.1016/j.jogoh.2023.102662 PMID 37659577 1 citation (Europe PMC) Source: ORCID

  16. Glomerulonefritlerde JAK2 Gen Mutasyonu Sıklığının Araştırılması

    The Anatolian Journal of General Medical Research, 2023

    DOI 10.4274/terh.galenos.2021.55899 Open-access full textSource: OpenAlex

  17. High Risk of Gestational Trophoblastic Neoplasia Development in Recurrent Hydatidiform Moles with NLRP7 Pathogenic Variations

    Balkan Journal of Medical Genetics, 2022

    DOI 10.2478/bjmg-2022-0025 PMID 37265977 2 citations (Europe PMC) Open-access full textSource: ORCID

  18. Evaluation of hereditary/familial breast cancer patients with multigene targeted next generation sequencing panel and MLPA analysis in Turkey

    Cancer Genetics, 2022

    DOI 10.1016/j.cancergen.2022.02.006 PMID 35220195 11 citations (OpenAlex) Source: OpenAlex

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

    Functional and Integrative Genomics, 2022

    DOI 10.1007/s10142-021-00819-3 PMID 35098403 10 citations (Europe PMC) Open-access full textSource: ORCID

  20. Clinical, genetic characteristics and treatment outcomes of children and adolescents with osteogenesis imperfecta: a two-center experience

    Connective Tissue Research, 2022

    DOI 10.1080/03008207.2021.1932853 PMID 34107839 9 citations (Europe PMC) Source: ORCID

  21. In silico identification of novel biomarkers for key players in transition from normal colon tissue to adenomatous polyps

    PLoS ONE, 2022

    DOI 10.1371/journal.pone.0267973 PMID 35486660 2 citations (Europe PMC) Open-access full textSource: ORCID

  22. Late onset Bartter syndrome: Bartter syndrome type 2 presenting with isolated nephrocalcinosis and high parathyroid hormone levels mimicking primary hyperparathyroidism

    Journal of Pediatric Endocrinology and Metabolism, 2022

    DOI 10.1515/jpem-2022-0154 PMID 35952717 4 citations (Europe PMC) Source: ORCID

  23. An Unexpected Cause of Ptosis: 22q11.2 Duplication Syndrome

    Neurology India, 2021

    DOI 10.4103/0028-3886.310061 PMID 33642297 1 citation (OpenAlex) Source: OpenAlex

  24. 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

  25. Can the Cell-free DNA Test Predict Placenta Accreta Spectrum or Placenta Previa Totalis?

    Zeitschrift für Geburtshilfe und Neonatologie, 2021

    DOI 10.1055/a-1579-1338 PMID 34433209 4 citations (OpenAlex) Source: OpenAlex

  26. TardbpGene with a Mutation with Spastic Speech Disorder

    Annals of Neurology, 2021

    Source: ORCID

  27. LATE-ONSET BARTTER SYNDROME TYPE 2 PRESENTING WITH ISOLATED NEPHROCALCINOSIS WITHOUT HYPOKALEMIC ALKALOSIS MIMICKING PRIMARY HYPERPARATHYROIDISM

    Pediatric Nephrology, 2021

    Source: ORCID

  28. PCR-Free Methodology for Detection of Single-Nucleotide Polymorphism with a Cationic Polythiophene Reporter

    ACS Sensors, 2021

    DOI 10.1021/acssensors.0c02130 PMID 33621051 7 citations (Europe PMC) Open-access full textSource: ORCID

  29. Selective bilateral vestibular neuropathy in a Turkish CMT1B family with a novel MPZ mutation

    Neurology: Clinical Practice, 2021

    DOI 10.1212/cpj.0000000000000930 PMID 33842081 1 citation (Europe PMC) Open-access full textSource: ORCID

  30. Can fetal fractions in the cell-free DNA test predict the onset of fetal growth restriction?

    Journal of Perinatal Medicine, 2020

    DOI 10.1515/jpm-2020-0010 PMID 32242833 7 citations (Europe PMC) Source: ORCID

  31. Could high levels of cell-free DNA in maternal blood be associated with maternal health and perinatal outcomes?

    Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology, 2020

    DOI 10.1080/01443615.2019.1671324 PMID 31769709 3 citations (Europe PMC) Source: Europe PMC

  32. 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

  33. 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

  34. Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping

    Cytogenetic and Genome Research, 2020

    DOI 10.1159/000509214 PMID 32599602 4 citations (Europe PMC) Source: ORCID

  35. Three Cases with Familial Short Stature: Leri-Weill Syndrome

    58th Annual ESPE Meeting (ESPE 2019), 2019

    Source: OpenAlex

  36. New Insight of Tumor Microenvironment in Non-Small Cell Lung Cancer

    Journal of Basic and Clinical Health Sciences, 2019

    DOI 10.30621/jbachs.2019.625 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  37. 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

  38. 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

  39. 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

  40. Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age

    Balkan Medical Journal, 2019

    DOI 10.4274/balkanmedj.2018.0922 PMID 30238922 3 citations (Europe PMC) Open-access full textSource: ORCID

  41. 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

  42. A case with central adrenal insufficiency and early onset obesity: Proopiomelanocortin deficiency

    Hormone Research in Paediatrics, 2019

    Source: ORCID

  43. A toddler with a novel LEPR mutation

    Hormones, 2019

    DOI 10.1007/s42000-019-00097-6 PMID 30778850 10 citations (Europe PMC) Source: ORCID

  44. Dual overlapping phenotype recessively inherited due to paternal unipaternal disomy of chromosome 2 (pUPD2) in a patient

    European Journal of Human Genetics, 2019

    Source: ORCID

  45. Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome

    Journal of Basic and Clinical Health Sciences, 2019

    DOI 10.30621/jbachs.2019.719 3 citations (OpenAlex) Open-access full textSource: ORCID

  46. Spinal muscular atrophy results and comparison of commonly used methods

    Gazi Medical Journal, 2019

    DOI 10.12996/gmj.2019.98 1 citation (OpenAlex) Open-access full textSource: ORCID

  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. An unusual cause of cavitating leukoencephalopathy: ethylmalonic encephalopathy

    Acta Neurologica Belgica, 2018

    DOI 10.1007/s13760-018-0902-3 PMID 29464661 4 citations (OpenAlex) Source: OpenAlex

  49. 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

  50. Liquid biopsy for EGFR mutations in non-small cell lung cancer cases by RT-PCR

    European Respiratory Journal, 2018

    DOI 10.1183/13993003.congress-2018.pa1757 1 citation (OpenAlex) Source: ORCID