This study analyzes mitochondrial and Y-chromosome haplogroups in the Iranian population using whole-exome sequencing and SNP microarray data from 18,184 individuals, revealing patterns of genetic diversity and haplogroup distribution.

bioRxiv · Mar 14, 2024 · PreprintGenetics

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson, Reshmi Ramakrishnan, Kelly J. Cardona‐Londoño, Karla A. Peña‐Guerra, Yolande van Bever, Barbara W. van Paassen, Anneke J.A. Kievit, Marjon van Slegtenhorst, Nicholas M. Allen, Caroline M. Kehoe, Hannah K. Robinson, Lewis Pang, , Tahsin Stefan Barakat

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

Genetics in Medicine · Aug 3, 2021Peer-reviewedGenetics

Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

Barbara Vona, Neda Mazaheri, Sheng‐Jia Lin, Lucy A Dunbar, Reza Maroofian, Héla Azaiez, Kevin T. A. Booth, Sandrine Vitry, Abolfazl Rad, Franz Rüschendorf, Pratishtha Varshney, Ben Fowler, Christian Beetz, Kumar N. Alagramam, David P. Murphy, , Hamid Galehdari

This study identifies biallelic mutations in CLRN2 as a cause of non-syndromic hearing loss through genetic analysis of a consanguineous family and functional validation in zebrafish and mouse models.

Human Genetics · Jan 26, 2021Peer-reviewedGenetics