Alperhan Çebi

7PUBLICATIONS
64CO-AUTHORS
Developmental genetics (incl. sex determination)Cancer geneticsGene mappingInfant and child healthEpigenetics (incl. genome methylation and epigenomics)
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Publications (7)

|Oct 23, 2026
The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation.

|Jun 12, 2026
Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome.

|Dec 01, 2025
Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum.

Zehra Manav Yiğit, Aydan Mengübaş Erbaş, Ayberk Türkyılmaz

|Oct 11, 2025
Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.

Kubra Adanur Saglam, Semiha Bekfilavioglu, Aysel Yıldız Boyraz

|May 27, 2025
A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.

Pinar Ozkan Kart, Oguzhan Demir, Ayberk Turkyilmaz

|Jul 24, 2023
Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations.

Murat Cakir, Nalan Yakici, Elif Sag

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Frequent Collaborators

4 joint publications

Ayberk Türkyılmaz

2 joint publications

Gülay Karagüzel

2 joint publications

Zehra Manav Yiğit

2 joint publications

Fazıl Orhan