All Stories

  1. Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

    Article • Epilepsia Open, February 2026, Wiley

    VEHAP TOPÇU

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

    Article • The American Journal of Human Genetics, February 2026, Elsevier

    VEHAP TOPÇU

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

    Article • The American Journal of Human Genetics, April 2025, Elsevier

    VEHAP TOPÇU

  4. Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants

    Article • Gazi Medical Journal, April 2024, Journal of Clinical Research of Pediatric Endocrinology

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  5. Expanding the mutational spectrum ofGCKin Turkish pediatric population

    Article • February 2024, Cold Spring Harbor Laboratory Press

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  6. Comparison Of Sanger Sequencing And Next Generation Sequencing Methods For Investigation Of Jak2 Exon 12 Mutations In Follow-Up Of Patients With Chronic Myeloproliferative Disease And Jak2 V617f Non-Mutation

    Article • Communications Faculty of Science University of Ankara Series C Biology Geological Engineering and Geophysical Engineering, February 2024, Ankara University

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  7. Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in <i>GRK2:</i> A Newly Associated Gene for Jeune Syndrome Phenotype

    Article • Molecular Syndromology, November 2023, Karger Publishers

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  8. A patient with Parkinson’s disease carrying a rare variant in the kinase domain of LRRK2

    Article • Annals of Movement Disorders, January 2023, Medknow

    VEHAP TOPÇU

  9. Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort

    Article • The Tohoku Journal of Experimental Medicine, January 2023, Tohoku University Medical Press

    VEHAP TOPÇU

  10. A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3

    Article • Molecular Syndromology, November 2022, Karger Publishers

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  11. Evaluation of Oxidant/Antioxidant System, IL-6 and IL-10 Parameters and SOD-Enzyme Activity in Pregnancy with Down Syndrome in Amnion Fluid Analysis

    Article • Gazi Medical Journal, January 2022, AVES Publishing Co.

    VEHAP TOPÇU

  12. The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum

    Article • Annals of Human Genetics, December 2021, Wiley

    VEHAP TOPÇU

  13. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

    Article • The American Journal of Human Genetics, October 2021, Elsevier

    ozlem sezer, VEHAP TOPÇU

  14. Expanding the genotype-phenotype spectrum of autosomal recessive Charcot-Marie-Tooth disease: A novel PLEKHG5 gene mutation

    Article • Neurology Asia, September 2021, ASEAN Neurological Association

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  15. Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family

    Article • Journal of Pediatric Endocrinology and Metabolism, February 2021, De Gruyter

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  16. Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer

    Article • Asia-Pacific Journal of Clinical Oncology, February 2021, Wiley

    VEHAP TOPÇU

  17. A rare case of multiple cutaneous melanomas in Li‐Fraumeni syndrome: A coincidental association or a component of the syndrome?

    Article • Australasian Journal of Dermatology, February 2019, Wiley

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  18. Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines

    Article • International Journal of Dermatology, August 2018, Wiley

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  19. A case of Carvajal syndrome associated with cervical neuroblastoma in an 8-year-old girl

    Article • International Journal of Dermatology, August 2018, Wiley

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  20. A new familial case of Jalili syndrome caused by a novel mutation in CNNM4

    Article • Ophthalmic Genetics, April 2016, Informa Healthcare

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  21. Lumbosacral spina bifida in a case with Pallister-Killian syndrome

    Article • Cumhuriyet Medical Journal, March 2016, Cumhuriyet Medical Journal

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  22. A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt–Oram syndrome

    Article • Journal of the Turkish-German Gynecological Association, March 2016, Journal of Clinical Research of Pediatric Endocrinology

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  23. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

    Article • Neuron, November 2015, Elsevier

    Dr Serkan Erdin, VEHAP TOPÇU, ozlem sezer

  24. Severe Insulin Resistance Alters Metabolism in Mesenchymal Progenitor Cells

    Article • Endocrinology, June 2015, Endocrine Society

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  25. The unprecedented recurrent diploid/tetraploid mosaicism of trisomy-18 (mixoploidy; 4n+18/2n+18): Clinical report

    Article • American Journal of Medical Genetics Part A, April 2015, Wiley

    sibel ozler, VEHAP TOPÇU

  26. Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2015, De Gruyter

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  27. ADAMTS4 and ADAMTS5 Knockout Mice Are Protected from Versican but Not Aggrecan or Brevican Proteolysis during Spinal Cord Injury

    Article • BioMed Research International, January 2014, Hindawi Publishing Corporation

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  28. ADAMTS1, ADAMTS5, ADAMTS9 and aggrecanase-generated proteoglycan fragments are induced following spinal cord injury in mouse

    Article • Neuroscience Letters, June 2013, Elsevier

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  29. A potential association between the number of CA repeats in the promoter region of the ADAMTS9 gene with lymphatic metastasis of breast cancer

    Article • TURKISH JOURNAL OF MEDICAL SCIENCES, January 2013, The Scientific and Technological Research Council of Turkey

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