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Sümeyra Oğuz

Observed names: Oğuz, Sümeyra, S. Oguz, S. Oğuz, Sumeyra Oguz, Sümeyra Oguz
ORCID: 0000-0003-4001-0505
Observed ORCID: 0000-0003-4001-0505
OpenAlex ID: A5064945561
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17
2019 · Suleyman Nahit Sendur, Sumeyra Oguz, et al. · European Journal of Medical Genetics · 15
Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability
2021 · S. Oğuz, U. E. Arslan, et al. · Journal of Intellectual Disability Research · 11
Genetic IGF1R defects: new cases expand the spectrum of clinical features
2020 · E. N. Gonc, Z. A. Ozon, et al. · Journal of Endocrinological Investigation · 8
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum
2021 · Naz Güleray, Can Koşukcu, et al. · The Cleft Palate-Craniofacial Journal · 6
A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature
2025 · Murat Erdogan, Aysel Unal, et al. · American Journal of Medical Genetics Part A · 5
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A very rare case of a newborn with tetrasomy 9p and literature review
2022 · Merve Süleyman, Sümeyra Oğuz, et al. · The Turkish Journal of Pediatrics · 5
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Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1
2025 · Burcu Yeter, Yasemin Kendir Demirkol, et al. · European Journal of Pediatrics · 3
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion
2020 · Pelin Ozlem Simsek-Kiper, Sumeyra Oguz, et al. · Neuropediatrics · 3
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)
2020 · Gizem Ürel-Demir, Özlem Akgün-Doğan, et al. · Molecular Syndromology · 2
Trisomy 18 and Trisomy 13: A Retrospective Cohort Study at a Tertiary Hospital
2026 · Nihan Uygur Külcü, Nurdan Erol, et al. · Children · 1
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The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation
2026 · Çağrı Doğan, Mehmet Burak Mutlu, et al. · BMC Pediatrics
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Additional file 2 of The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation
2026 · Çağrı Doğan, Mehmet Burak Mutlu, et al. · Figshare
Additional file 1 of The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation
2026 · Çağrı Doğan, Mehmet Burak Mutlu, et al. · Figshare
Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort: Novel ANKRD11 Variants, 16q24.3 Deletions, and Structural Insights for Robust ANKRD11 Variant Interpretation
2026 · İrem Kalay, Tahir Atik, et al. · Balkan Medical Journal
Supplemental Material for: Neonatal Presentation of Tuberous Sclerosis Complex Diagnosed through Macrodactyly: A Case Report
2026 · figshare admin karger, Emine Aylin Şenol, et al. · Figshare
Neonatal Presentation of Tuberous Sclerosis Complex Diagnosed through Macrodactyly: A Case Report
2026 · Emine Aylin Şenol, Emek Uyur, et al. · Molecular Syndromology
Expanding the Neurodevelopmental Spectrum of Xia–Gibbs Syndrome: New Clinical Entities and Novel Variants From a Turkish Cohort
2026 · Irem Kalay, Kadri Karaer, et al. · Developmental Neurobiology
An Unexpected Diagnosis of The Rectal Polyp: Perivascular Epithelioid Cell Tumor
2024 · Muhammed Hamidullah Çakmak, Nevzat Aykut Bayrak, et al. · Turkish Archives of Pediatrics
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Advantages and limitations of QF-PCR analysis in invasive prenatal genetic diagnosis: a tertiary center experience from Turkey
2022 · Münip Akalın, Oya Demirci, et al. · Perinatal Journal
Works count: 22
Citation count: 59
H-index: 5
I10-index: 2
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