Exome sequencing reveals novel candidate variants for endometriosis and endometrial serous adenocarcinoma in a single family having multiple affected members 

Human Reproduction, 2022By Ahmet Can TurkogluJune 30, 2022

B. G. Kina, N. F. Topbas Selcuki, P. Yalcin Bahat, T. Usta, F. N. Tuncer, and E. Oral

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Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency 

Journal of Clinical Endocrinology & Metabolism, 2022By Ahmet Can TurkogluJanuary 13, 2022

Tuba Seven Menevse, Yasemin Kendir Demirkol, Busra Gurpinar Tosun, Elvan Bayramoglu et al.

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Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

Molecular Syndromology, 2022By Ahmet Can TurkogluJanuary 12, 2022

Tayfun Cinleti, Ceren Yılmaz Uzman, Şefika Akyol, Özlem Tüfekçi, Murat Derya Erçal and Özlem Giray Bozkaya

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The Genetic Analysis of Cystic Fibrosis Patients with Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey 

Balkan Medical Journal, 2021By Ahmet Can TurkogluNovember 1, 2021

Murat Erdoğan, Mehmet Köse, Sevgi Pekcan, Melih Hangül, Burhan Balta et al.

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Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes

Archives of Neuropsychiatry, 2021By Ahmet Can TurkogluAugust 26, 2021

Sinem Yalçıntepe, Işık Göker, Selma Demir, Emine İkbal Atlı, Engin Atlı et al.

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The Effects of Sequencing Depth and Cohort Size on NGS CNV Analysis

White PapersBy Tolga Aslan, PhDFebruary 28, 2021

Delve into the impact of sequencing depth and cohort size on NGS CNV analysis, exploring the relationship between these factors and the sensitivity and specificity of detecting copy number variations in genetic studies.

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Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database

Human Mutation, 2020By Ahmet Can TurkogluJune 24, 2020

Ceren Tunca, Tuncay Şeker, Fulya Akçimen, Cemre Coşkun, Robin Palvadeau et al.

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SEQ Platform’s Automated Variant Classification Tool: Highlighting VUS+ and VUS++ Classification

White PapersBy Tuncay Şeker, PhDDecember 4, 2019

Discover SEQ’s Automated Variant Classification Tool, which incorporates ACMG’s Standards and Guidelines, and learn how the additional VUS+ and VUS++ classifications can improve variant interpretation and prioritization.

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Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant 

Molecular Syndromology, 2020By Ahmet Can TurkogluNovember 26, 2019

Aslihan Sanri, Hakan Gurkan and Selma Demir

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Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family

Neurogenetics, 2019By Ahmet Can TurkogluNovember 19, 2019

R. Palvadeau, Z. E. Kaya-Güleç, G. Şimşir, A. Vural, Ö. Öztop-Çakmak et al.

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