Scientific work

Uzm. Dr. Fırat Özçelik

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

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  1. Optogenetics: The Nobel-Winning Breakthrough and Its Implications in Biotechnology

    The EuroBiotech Journal, 2026

    DOI 10.2478/ebtj-2026-0023 Open-access full textSource: ORCID

  2. Investigation of testicular METRNL and RARRES2 expression in non-obstructive azoospermia

    Journal of Applied Genetics, 2026

    DOI 10.1007/s13353-026-01106-2 PMID 42581226 Source: ORCID

  3. Blended Hereditary Neuropathy Phenotype Caused by Biallelic PRX and SCN9A Variants: A Case Report

    Molecular Syndromology, 2026

    DOI 10.1159/000553320 PMID 42583656 Open-access full textSource: ORCID

  4. Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review

    Neurogenetics, 2026

    DOI 10.1007/s10048-026-00906-2 PMID 42104006 Source: ORCID

  5. Genotype–Phenotype Correlations in Phenylketonuria and Hyperphenylalaninemia: A Single‐Center Study

    Pediatrics International, 2026

    DOI 10.1111/ped.70441 PMID 42290321 Source: ORCID

  6. COVID-19 related mucormycosis and hemophagocytic lymphohistiocytosis in a child with juvenile myelomonocytic leukemia

    Trends in Pediatrics, 2025

    DOI 10.59213/tp.2025.229 Open-access full textSource: ORCID

  7. A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis

    Neurogenetics, 2025

    DOI 10.1007/s10048-025-00825-8 PMID 40448720 1 citation (Europe PMC) Source: ORCID

  8. Familial hemophagocytic lymphohistiocytosis case in adult age

    Journal of Current Hematology & Oncology Research, 2025

    DOI 10.51271/jchor-0060 Open-access full textSource: ORCID

  9. The seven enigmas of SARS-CoV-2: From the past to the future

    Journal of Human Immunity, 2025

    DOI 10.70962/jhi.20250149 PMID 41347066 5 citations (OpenAlex) Open-access full textSource: OpenAlex

  10. Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2

    Nature Communications, 2025

    DOI 10.1038/s41467-025-65308-8 PMID 41309545 4 citations (OpenAlex) Open-access full textSource: OpenAlex

  11. The role of a deep intronic variant in the SHH gene in the molecular pathogenesis of Dundar Acropectoral syndrome

    Erciyes University - AVESIS, 2025

    Open-access full textSource: OpenAlex

  12. The impact and future of artificial intelligence in medical genetics and molecular medicine: an ongoing revolution

    Functional & Integrative Genomics, 2024

    DOI 10.1007/s10142-024-01417-9 PMID 39147901 11 citations (Europe PMC) Open-access full textSource: ORCID

  13. A case of autoimmune lymphoproliferative syndrome with a novel de novo FAS variant

    Pediatric Hematology and Oncology, 2024

    DOI 10.1080/08880018.2023.2286967 PMID 38047450 Source: ORCID

  14. A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity

    The Journal of Experimental Medicine, 2024

    DOI 10.1084/jem.20241413 PMID 39680367 14 citations (OpenAlex) Open-access full textSource: OpenAlex

  15. Deciphering the host genetic factors conferring susceptibility to severe COVID-19 using exome sequencing

    Genes & Immunity, 2023

    DOI 10.1038/s41435-023-00232-9 PMID 38123822 3 citations (Europe PMC) Source: ORCID

  16. PPM1K defects cause mild maple syrup urine disease: The second case in the literature

    American Journal of Medical Genetics Part A, 2023

    DOI 10.1002/ajmg.a.63129 PMID 36706222 9 citations (Europe PMC) Source: ORCID

  17. A Case of Short Stature Caused by a Mutation in the ACAN Gene

    Molecular Syndromology, 2023

    DOI 10.1159/000526166 PMID 37064332 4 citations (Europe PMC) Open-access full textSource: ORCID

  18. 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

  19. A very rare cause of arthrogryposis multiplex congenita: a novel mutation in TOR1A.

    Journal of pediatric endocrinology & metabolism : JPEM, 2022

    DOI 10.1515/jpem-2021-0766 PMID 35303767 1 citation (Europe PMC) Source: ORCID

  20. Nadir Hastalıklarda Biyoteknolojik Tedaviler

    Nadir Hastalıklar, 2021

    Source: ORCID