FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature
Aysel Tekmenuray Unal and Ceren Damla Durmaz
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Four Turkish families with hyperekplexia: A missense mutation and the exon 1–7 deletion in the GLRA1 gene
Didem Tezen, Gülşah Şimşir, Özlem Çokar, Veysi Demirbilek, A. Nazlı Başak, and Zuhal Yapıcı
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Why FastQ is a Better Starting Point for Clinical NGS Analysis?
Get insight about why FastQ file format is a superior starting point for clinical NGS data analysis compared to VCF. Take a look at the advantages of using raw sequencing data, including data completeness, customizable analysis, and the ability to detect novel genetic variants crucial in clinical contexts.
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Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method
Damla Eker, Hakan Gurkan, Yasemin Karal, Sinem Yalcintepe, Selma Demir et al.
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Exome sequencing reveals novel candidate variants for endometriosis and endometrial serous adenocarcinoma in a single family having multiple affected members
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
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
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
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
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
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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