Umut Altunoğlu

14PUBLICATIONS
40CO-AUTHORS
Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Anthropological genetics
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Publications (14)

|Jul 19, 2026
Clinical and Molecular Characterization of a RASopathy Cohort From Türkiye and an AMMECR1-Related Noonan Syndrome-Mimicking Phenotype.

|Feb 18, 2026
Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Volkan Karaman, Ayça Dilruba Aslanger, Tuğba Saraç Sivrikoz

|Dec 27, 2025
Discovery of novel candidate genes for congenital diaphragmatic hernia via whole exome sequencing.

G Somayyeh Heidargholizadeh, Gozde Tutku Turgut, Umut Altunoglu

|Apr 02, 2025
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.

Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı

|Mar 17, 2025
Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females.

Umut Altunoglu, Birsen Karaman, Yasemin Alanay

|Mar 26, 2024
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Umut Altunoglu, Adrian Palencia-Campos, Nilay Güneş

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Frequent Collaborators

11 joint publications

Zehra Oya Uyguner

7 joint publications

Şahin Avcı

6 joint publications

Hülya Kayserili

5 joint publications

Birsen Karaman