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Vehap Topçu

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
2015 · Ender Karaca, Tamar Harel, et al. · Neuron · 316
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
2021 · Tadahiro Mitani, Sedat Isikay, et al. · The American Journal of Human Genetics · 100
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ADAMTS1, ADAMTS5, ADAMTS9 and aggrecanase-generated proteoglycan fragments are induced following spinal cord injury in mouse
2013 · Kadir Demircan, Tomoko Yonezawa, et al. · Neuroscience Letters · 49
ADAMTS4 and ADAMTS5 Knockout Mice Are Protected from Versican but Not Aggrecan or Brevican Proteolysis during Spinal Cord Injury
2014 · Kadir Demircan, Vehap Topcu, et al. · BioMed Research International · 40
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Severe Insulin Resistance Alters Metabolism in Mesenchymal Progenitor Cells
2015 · Bharti Balhara, Alison Burkart, et al. · Endocrinology · 19
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A new familial case of Jalili syndrome caused by a novel mutation inCNNM4
2016 · Vehap Topçu, Muhammed Yunus Alp, et al. · Ophthalmic Genetics · 16
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
2025 · Huw B. Thomas, Leigh A.M. Demain, et al. · The American Journal of Human Genetics · 15
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Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development
2015 · Vehap Topcu, Hatice Ilgin-Ruhi, et al. · Journal of Pediatric Endocrinology and Metabolism · 14
Frequency of germline BRCA1/2 mutations and association with clinicopathological characteristics in Turkish women with epithelial ovarian cancer
2021 · Veli Sunar, Vakkas Korkmaz, et al. · Asia-Pacific Journal of Clinical Oncology · 6
A rare case of multiple cutaneous melanomas in Li‐Fraumeni syndrome: A coincidental association or a component of the syndrome?
2019 · Bengu Nisa Akay, Aylin Okcu Heper, et al. · Australasian Journal of Dermatology · 5
A case of Carvajal syndrome associated with cervical neuroblastoma in an 8‐year‐old girl
2018 · Neslihan Akdogan, Pınar Incel‐Uysal, et al. · International Journal of Dermatology · 5
Reanalysis of Whole-Exome Sequencing Data of an Infant with Suspected Diagnosis of Jeune Syndrome Revealed a Likely Pathogenic Variant in GRK2: A Newly Associated Gene for Jeune Syndrome Phenotype
2023 · Vehap Topcu, Said Furkan Yildirim, et al. · Molecular Syndromology · 4
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A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3
2022 · Engin Demir, Neslihan Doğulu, et al. · Molecular Syndromology · 4
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Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines
2018 · Seda Purnak, Vehap Topçu, et al. · International Journal of Dermatology · 4
A novel mutated sequence in the T-box transcription factor-5 (TBX-5) gene (c.241A>T) in Holt–Oram syndrome
2015 · Ali Ozgur Ersoy, Vehap Topcu, et al. · Journal of the Turkish-German Gynecological Association · 4
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The molecular landscape of progressive familial intrahepatic cholestasis in Turkey: Defining the molecular profiles and expanding the variant spectrum
2021 · Abdullatif Bakır, Vehap Topçu, et al. · Annals of Human Genetics · 3
Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family
2021 · Hande Nur Cesur Baltacı, Elifcan Taşdelen, et al. · Journal of Pediatric Endocrinology and Metabolism · 3
A Trisomy 13 Case Presenting With Congenital Diaphragmatic Hernia and Microphthalmia.
2015 · S Sahin, Kanmaz H G Kutman, et al. · PubMed · 3
MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy
2026 · Heba Morsy, Hyeonho Kim, et al. · The American Journal of Human Genetics · 2
Impact of Inflammation-Related Genes on COVID-19: Prospective Study at Turkish Cohort
2023 · Ahmet Cevdet Ceylan, Büşranur Çavdarlı, et al. · The Tohoku Journal of Experimental Medicine · 2
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The unprecedented recurrent diploid/tetraploid mosaicism of trisomy‐18 (mixoploidy; 4n+18/2n+18): Clinical report
2015 · Sibel Ozler, Ali O. Ersoy, et al. · American Journal of Medical Genetics Part A · 2
A potential association between the number of CA repeats in the promoter region of the ADAMTS9 gene with lymphatic metastasis of breast cancer
2013 · Mikdat BOZER, Fatma AŞIK, et al. · TURKISH JOURNAL OF MEDICAL SCIENCES · 2
Wilson Disease in a Turkish Population: Molecular Insights into an Old Disease with Reported and Novel Variants
2024 · Abdullatif Bakır, Vehap Topçu, et al. · Gazi Medical Journal · 1
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Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat.
2014 · V Topcu, H Ilgin-Ruhi, et al. · PubMed · 1
Case report: partial trisomy 4q27q35 syndrome.
2014 · S Arayici, V Topcu, et al. · PubMed · 1
Works count: 49
Citation count: 621
H-index: 8
I10-index: 8
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