Publications by authors named "Alper H Cebi"

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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, Emine Ayça Cimbek, Ayse Ozden, Alper Han Cebi

Eur J Pediatr· October 2025

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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, Alper Han Cebi, Ali Cansu

Neurogenetics· May 2025

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Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.
Ayberk Turkyilmaz, Safiye Gunes Sager, Kerem Terali, Pinar Ozkan Kart, Tulay Kamasak, Alper Han Cebi

Clin Genet· April 2025

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A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3.
Ayberk Turkyilmaz, Kubra Adanur Saglam, Mustafa Yilmaz, Alper Han Cebi

Clin Genet· February 2025

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Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.
Oguzhan Demir, Kubra Adanur Saglam, Mustafa Yilmaz, Tuna Apuhan, Alper Han Cebi

Am J Med Genet A· November 2024

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A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes.
Ayberk Türkyılmaz, Emine Ayça Cimbek, Hakan Kardeş, Alper Han Çebi, Elif Acar Arslan

Clin Dysmorphol· July 2024

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A perspective on muscle phenotyping in musculoskeletal research.
Ines Foessl, Cheryl L Ackert-Bicknell, Erika Kague, Faidra Laskou, Franz Jakob, Alper Han Cebi

Trends Endocrinol Metab· June 2024

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The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.
Mustafa Yılmaz, Tülay Kamaşak, Kerem Teralı, Alper Han Çebi, Ayberk Türkyılmaz

Am J Med Genet A· May 2024

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Comparison of Clinical and Genetic Characteristics of Familial Mediterranean Fever Patients Among Adult Age Groups.
Sami Fidan, Sahile Seferli, Serdar Durak, Ceren Konca Seferoğlu, İlyas Ercan Okatan

Turk J Gastroenterol· May 2024

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A Homozygous Missense Variant in Identified in Two Different Families.
Pınar Özkan Kart, Yavuz Sahin, Nihal Yildiz, Alper Han Cebi, Gulnur Esenulku

Mol Syndromol· March 2024

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Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.
Kerem Teralı, Ayberk Türkyılmaz, Safiye Güneş Sağer, Alper Han Çebi

Clin Transl Sci· January 2024

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Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations.
Murat Cakir, Nalan Yakici, Elif Sag, Gulay Kaya, Ayşenur Bahadir, Alper Han Cebi

Pediatr Gastroenterol Hepatol Nutr· July 2023

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De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism.
Ayberk Türkyılmaz, Emine Ayça Cimbek, Alper Han Çebi, Elif Acar Arslan, Gülay Karagüzel

Mol Syndromol· February 2023

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Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in and Genes.
Hilmi Bolat, Safiye G Sağer, Ayberk Türkyılmaz, Alper H Çebi, Yasemin Akın

Mol Syndromol· December 2022

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Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset.
Gülay Karagüzel, Recep Polat, Mehtap H Abul, Alper Han Cebi, Fazıl Orhan

J Clin Res Pediatr Endocrinol· August 2022

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Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.
Taner Karakaya, Ayberk Turkyilmaz, Gunes Sager, Rahsan Inan, Oguzhan Yarali, Alper Han Cebi

Neurogenetics· July 2022

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Genetic Landscape of Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome.
Ayberk Türkyılmaz, Emine Tekin, Oğuzhan Yaralı, Alper Han Çebi

Mol Syndromol· July 2022

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Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period.
Aysenur Bahadir, Şebnem Kader, Alper Han Çebi, Erol Erduran, Mehmet Mutlu

J Pediatr Hematol Oncol· May 2022

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Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.
Ayberk Turkyilmaz, Ceren Alavanda, Esra Arslan Ates, Bilgen Bilge Geckinli, Hamza Polat, Alper Han Cebi

J Assist Reprod Genet· March 2022

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MicroRNA Expression Levels in Patients with Hashimoto Thyroiditis: A Single Centre Study.
Hale O Yilmaz, Alper H Cebi, Mustafa Kocak, Halil O Ersoz, Mevlit Ikbal

Endocr Metab Immune Disord Drug Targets· January 2022

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Secondary findings in 622 Turkish clinical exome sequencing data.
Esra Arslan Ateş, Ayberk Türkyilmaz, Özlem Yıldırım, Ceren Alavanda, Hamza Polat

J Hum Genet· November 2021

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Early onset congenital diarrheas; single center experience.
Murat Cakir, Elif Sag, Burcu Guven, Ulas Emre Akbulut, Fatma Issi, Alper Han Cebi

Pediatr Neonatol· November 2021

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Plasma microRNA levels in childhood IgA vasculitis.
Alper Han Cebi, Ferhat Demir, Mevlit Ikbal, Mukaddes Kalyoncu

Clin Rheumatol· May 2021

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Correction to: Plasma microRNA levels in childhood IgA vasculitis.
Alper Han Cebi, Ferhat Demir, Mevlit Ikbal, Mukaddes Kalyoncu

Clin Rheumatol· May 2021

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Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of and Deletions.
Alper Han Çebi, Şule Altıner

Mol Syndromol· November 2020

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