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Alper Han Çebi

Observed names: A H Cebi, A H Çebi, A. Cebi, A. Han Cebi, AH Cebi, AH Çebi, Alper Cebi, Alper H. Cebi, Alper H. Çebi, Alper Han Cebi, Alper Han ÇEBİ, Alperhan Cebi, Alperhan Çebi, Alper Han Cebi, Çebi AH
ORCID: 0000-0001-7388-874X
Observed ORCID: 0000-0001-7388-874X
OpenAlex ID: A5070861934
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
2015 · Ender Karaca, Tamar Harel, et al. · Neuron · 320
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Secondary findings in 622 Turkish clinical exome sequencing data
2021 · Esra Arslan Ateş, Ayberk Türkyilmaz, et al. · Journal of Human Genetics · 20
Evaluation of plasma microRNA expressions in patients with juvenile idiopathic arthritis
2018 · Ferhat Demir, Alper Han Çebi, et al. · Clinical Rheumatology · 19
Interleukin-6 and interleukin-17 gene polymorphism association with celiac disease in children
2017 · Ulaş Emre Akbulut, Alper Han Çebi, et al. · The Turkish Journal of Gastroenterology · 18
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Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency
2022 · Ayberk Turkyilmaz, Ceren Alavanda, et al. · Journal of Assisted Reproduction and Genetics · 17
Structural Characteristics in the γ Chain Variants Associated with Fibrinogen Storage Disease Suggest the Underlying Pathogenic Mechanism
2020 · Guven Burcu, Emanuele Bellacchio, et al. · International Journal of Molecular Sciences · 15
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Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?
2018 · Tülay Kamaşak, Cengiz Havalı, et al. · European Journal of Paediatric Neurology · 11
A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation
2017 · Elif Sag, Alper Han Cebi, et al. · Pediatric Gastroenterology Hepatology & Nutrition · 11
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The evaluation of genotoxic potential of ornidazole, nitroimidazole, in lymphocyte culture of patients with amebiasis
2011 · Mevlit Ikbal, Gürdal Yilmaz, et al. · Drug and Chemical Toxicology · 10
A perspective on muscle phenotyping in musculoskeletal research
2024 · Ines Foessl, Cheryl L. Ackert-Bicknell, et al. · Trends in Endocrinology and Metabolism · 9
Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions
2020 · Alper Han Çebi, Şule Altıner · Molecular Syndromology · 9
IL-17A, MCP-1, CCR-2, and ABCA1 polymorphisms in children with non-alcoholic fatty liver disease
2018 · Ulas Emre Akbulut, Hamdi Cihan Emeksiz, et al. · Jornal de Pediatria · 9
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Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes
2022 · Hilmi Bolat, Safiye G. Sağer, et al. · Molecular Syndromology · 8
Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability
2021 · A Türkyılmaz, BB Geckinli, et al. · Balkan Journal of Medical Genetics · 8
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
2021 · Gülay Karagüzel, Recep Polat, et al. · Journal of Clinical Research in Pediatric Endocrinology · 8
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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
2024 · Mustafa Yılmaz, Tülay Kamaşak, et al. · American Journal of Medical Genetics Part A · 7
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22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.
2016 · M Y Alp, A H Çebi, et al. · PubMed · 7
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease
2022 · Taner Karakaya, Ayberk Turkyilmaz, et al. · Neurogenetics · 6
A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families
2023 · Pınar Özkan Kart, Yavuz Sahin, et al. · Molecular Syndromology · 5
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Primary Immunodeficiencies in Children Initially Admitted with Gastrointestinal/Liver Manifestations
2023 · Murat Cakir, Nalan Yakici, et al. · Pediatric Gastroenterology Hepatology & Nutrition · 5
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Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome
2022 · Ayberk Türkyılmaz, Emine Tekin, et al. · Molecular Syndromology · 5
Early onset congenital diarrheas; single center experience
2021 · Murat Cakir, Elif Sag, et al. · Pediatrics & Neonatology · 5
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Plasma microRNA levels in childhood IgA vasculitis
2020 · Alper Han Cebi, Ferhat Demir, et al. · Clinical Rheumatology · 5
Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort
2025 · Kubra Adanur Saglam, Semiha Bekfilavioglu, et al. · European Journal of Pediatrics · 4
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals
2024 · Oguzhan Demir, Kubra Adanur Saglam, et al. · American Journal of Medical Genetics Part A · 4
Works count: 70
Citation count: 585
H-index: 9
I10-index: 9
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