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Serdar Bozlak

Cervical lymphadenopathies in children: A prospective clinical cohort study
2016 · Serdar Bozlak, Muhammet Ali Varkal, et al. · International Journal of Pediatric Otorhinolaryngology · 52
The frequency of and factors affecting functional gastrointestinal disorders in infants that presented to tertiary care hospitals
2021 · Omer Faruk Beser, Fugen Cullu Cokugras, et al. · European Journal of Pediatrics · 30
Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey
2023 · Dilek Uludağ Alkaya, Birol Öztürk 1, et al. · Turkish Archives of Pediatrics · 18
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Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
2022 · Beyhan Tüysüz, Büşra Kasap, et al. · Bone · 9
Investigation of VDR gene polymorphisms in twins with autism spectrum disorder
2021 · Ender Coskunpinar, Tuba Kose, et al. · Research in Autism · 7
Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients
2023 · Beyhan Tüysüz, Serdar Bozlak, et al. · Cancers · 6
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Pelvic ultrasound findings in prepubertal girls with precocious adrenarche born appropriate for gestational age
2013 · Ahmet Uçar, Oğuz Bulent Erol, et al. · Clinical Endocrinology · 6
A Large Turkish Cohort of Williams Syndrome: The Evaluation of Facial, Cardiovascular, and Neuropsychiatric Features
2023 · Serdar Bozlak, Dilek Uludağ Alkaya, et al. · Turkish Archives of Pediatrics · 3
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From Family History to Structural Insight: The TP53 c.1024C>T [p.(Arg342*)] Variant in Li–Fraumeni Syndrome
2026 · Emir Nekay, Savas Baris, et al. · Biomedicines
Clinical and Functional Characterization of Three Homozygous NTRK1 Variants and A Brief Comparison of the Literature
2026 · Aydeniz Aydin Gumus, Ekrem Akbulut, et al. · Research Square
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Homozygosity for a Canonical FLNB Splice-Donor Variant and a Co-Inherited Missense Variant on a Single Haplotype in Spondylocarpotarsal Synostosis Syndrome: Neither Variant Can Receive Allelic Evidence Independently
2026 · Serdar Bozlak, Cuneyd Yavas, et al. · Life
A Novel Synonymous Splice-Altering Variant in INPPL1 Expands the Mutational Spectrum of Opsismodysplasia
2026 · Serdar Bozlak, Cüneyd Yavaş, et al. · Yüzüncü Yıl Üniversitesi Fen Bilimleri Enstitüsü Dergisi
Clinical and Molecular Spectrum of 1q21.1 Copy Number Variations: A Case Series
2026 · Tuna Eren Esen, Lale Yilmaz Celik, et al. · Genes
Genomic medicine knowledge, self-assessment, and training needs among Turkish pediatricians: a cross-sectional survey
2026 · Serdar Bozlak, Cüneyd Yavaş · Journal of Community Genetics
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OP–140 Congenital pulmonary airway malformation associated with a dicer1 variant
2026 · Ümmügülsüm Tepeltepe, Mustafa Azizoğlu, et al. · BMJ Paediatrics Open
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OP–144 CCM2 variant in familial cerebral cavernous malformation: early diagnosis in a 9-month-old infant
2026 · Halil İbrahim Yılmaz, Serdar Bozlak · BMJ Paediatrics Open
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OP–136 Partial 12P duplication and klinefelter syndrome: a dual genetic diagnosis
2026 · Gamze Beklin, Serdar Bozlak · BMJ Paediatrics Open
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OP–141 Stüve-wiedemann syndrome: a case series of three patients with variable clinical phenotype
2026 · Ayça Bostan Ilkı, Serdar Bozlak · BMJ Paediatrics Open
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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
Novel Homozygous LAMC3 Frameshift Variant Associated with Confluent Leukoencephalopathy and Low-Grade Tectal Glioneuronal Tumor: Expanding the Phenotypic Spectrum with Bioinformatic Characterization
2026 · Serdar Bozlak, Cuneyd Yavas, et al. · Life
Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies
2026 · Serdar Bozlak, Cuneyd Yavas, et al. · Journal of Human Genetics
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Neurovascular Involvement in Arterial Tortuosity Syndrome Associated with a Homozygous SLC2A10 p.(Trp162Ter) Variant: Clinical, Molecular, and In Silico Characterization
2026 · Serdar Bozlak, Cuneyd Yavas, et al. · International Journal of Molecular Sciences
Reclassification of PAPSS2 Missense Variants in Turkish Patients with Brachyolmia Type 4: Multi-Modal Computational and Structural Biology Evidence for APS-Kinase Domain Dysfunction
2026 · Serdar Bozlak, Cuneyd Yavas, et al. · Medicina
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Molecular Oncology, Inflammation and Current Trends: From Cellular Mechanisms to Treatment
2026 · İNCE, Badel, HACISÜLEYMAN, Levent, et al. · Zenodo (CERN European Organization for Nuclear Research)
Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype–Phenotype Correlations in Inherited Kidney Diseases
2026 · Savas Baris, Kerem Terali, et al. · Life
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Works count: 29
Citation count: 131
H-index: 6
I10-index: 3
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