Non Allelic Homologous Recombination (nahr) - Genetic Mutations

Relevant Publications

Compared to other NHEJ factors, DNA-PK protein and RNA levels are markedly increased in all higher primates, but not in prosimians or other mammals.

Issue Release: 2024

Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.

Issue Release: 2024

Deciphering new insights into copy number variations as drivers of genomic diversity and adaptation in farm animal species.

Issue Release: 2024

High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.

Issue Release: 2023

Constructing founder sets under allelic and non-allelic homologous recombination.

Issue Release: 2023

High incidence of AZF duplications in clan-structured Iranian populations detected through Y chromosome sequencing read depth analysis.

Issue Release: 2023

16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.

Issue Release: 2022

CRISPR/Cas9-induced gene conversion between paralogs.

Issue Release: 2022

A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome.

Issue Release: 2022

Mechanisms of structural chromosomal rearrangement formation.

Issue Release: 2022

Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.

Issue Release: 2021

New structural variations responsible for Charcot-Marie-Tooth disease: The first two large deletions detected by CovCopCan software.

Issue Release: 2021

Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.

Issue Release: 2021

Generation of induced pluripotent stem cell GZHMCi005-A from amniotic fluid-derived cells with duplication of chromosome 8p.

Issue Release: 2021

Human AZFb deletions cause distinct testicular pathologies depending on their extensions in Yq11 and the Y haplogroup: new cases and review of literature.

Issue Release: 2021

Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR).

Issue Release: 2020

Chromatin organization modulates the origin of heritable structural variations in human genome.

Issue Release: 2019

Evolutionary Story of the Low/Medium-Affinity IgG Fc Receptor Gene Cluster.

Issue Release: 2019

High frequencies of Non Allelic Homologous Recombination (NAHR) events at the AZF loci and male infertility risk in Indian men.

Issue Release: 2019

Review of molecular mechanisms at distal Xq28 leading to balanced or unbalanced genomic rearrangements and their phenotypic impacts on hemophilia.

Issue Release: 2018

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