Koray Boduroğlu

Hacettepe University — Turkey

Biochemistry, Genetics and Molecular Biology · Life Sciences

27h-index3.1kcitations157works1.72yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(30), Connective tissue disorders research(24), Genetics and Neurodevelopmental Disorders(19), Genomics and Rare Diseases(15), Prenatal Screening and Diagnostics(14)

Publications156 total

Professional, educational and psychosocial impacts of the COVID-19 pandemic on pediatricians
Postgraduate Medicine·2024
Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome
The Turkish Journal of Pediatrics·2024· 2 citedOpen Access
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
European Journal of Medical Genetics·2024· 5 citedOpen Access
A Novel <i>ZBTB20</i> Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features
Molecular Syndromology·2024Open Access
A Long-Term Follow-Up of a Patient with a Novel <i>PORCN</i> Variant and Additional Clinical Features
Molecular Syndromology·2024· 1 citedOpen Access
Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families
Molecular Syndromology·2024· 2 citedOpen Access
Evaluation of polysomnography findings in children with genetic skeletal disorders
Journal of Sleep Research·2023
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients
European Journal of Medical Genetics·2023Open Access
A novel biallelic <scp><i>CRIPT</i></scp> variant in a patient with short stature, microcephaly, and distinctive facial features
American Journal of Medical Genetics Part A·2023· 6 cited
Clinical Evaluation of the Five Patients with Mosaic Trisomy 8 Syndrome: Case Series
Turkiye Klinikleri Journal of Pediatrics·2023Open Access
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy
European Journal of Medical Genetics·2022· 1 cited
Biallelic loss‐of‐function variants in <i>EXOC6B</i> are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3
Human Mutation·2022· 7 citedOpen Access
Evaluation of polysomnography findings in children with genetic skeletal disorders
04.02 - Clinical and epidemiological respiratory sleep medicine·2022· 1 cited
A Life-Threatening Complication in a Patient with Ehlers-Danlos Syndrome Musculocontractural Type
The Journal of Pediatric Research·2022· 2 citedOpen Access
Table of Contents, Volume 188A, Number 8 August 2022
American Journal of Medical Genetics Part A·2022Open Access
Diagnostic distribution and postnatal evaluation of prenatally detected short femur: A single center experience
American Journal of Medical Genetics Part A·2022
Supplementary Material for: Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions
Figshare·2022Open Access
Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review
Pediatric Gastroenterology Hepatology & Nutrition·2022· 6 citedOpen Access
Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions
Molecular Syndromology·2022· 5 citedOpen Access
Diagnostic yield of microarrays in individuals with non‐syndromic developmental delay and intellectual disability
Journal of Intellectual Disability Research·2021· 11 cited
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Frequent Co-authors

Yasemin Alanay(24), Gülen Eda Ütine(24), Pelin Özlem Şimşek‐Kiper(24), Mehmet Alikaşifoğlu(15), Dilek Aktaş(8), Ergül Tunçbılek(7), Esra KAYA KILIÇ(6), Bernd Wollnik(6), E Tunçbilek(6), Ekim Z. Taşkıran(6), Andrea Superti‐Furga(5), Dagmar Wieczorek(5), Göknur Haliloğlu(5), Can Koşukçu(5), Eda Ütine(5), Nurten Akarsu(4), Valérie Cormier‐Daire(4), Stanislas Lyonnet(4), Nina Bögershausen(4), Yun Li(4)