XRCC2 mutation causes meiotic arrest, azoospermia and infertility

Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans

(2017) Yue-Qiu Tan et al.   GENETICS IN MEDICINE

A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family

(2017) Ozlem Okutman et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men

(2017) Maram Arafat et al.   JOURNAL OF MEDICAL GENETICS

Meiotic Knockdown and Complementation Reveals Essential Role of RAD51 in Mouse Spermatogenesis

(2017) Jieqiong Dai et al.   Cell Reports

Fanconi-Anemia-Associated Mutations Destabilize RAD51 Filaments and Impair Replication Fork Protection

(2017) Karina Zadorozhny et al.   Cell Reports

Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates thatXRCC2is a Fanconi anaemia gene

(2016) Jung-Young Park et al.   JOURNAL OF MEDICAL GENETICS

TEX11 is mutated in infertile men with azoospermia and regulates genome-wide recombination rates in mouse

(2015) F. Yang et al.   EMBO Molecular Medicine

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

(2015) Esther Maor-Sagie et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

(2015) Yardena Tenenbaum-Rakover et al.   JOURNAL OF MEDICAL GENETICS

X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

(2015) Alexander N. Yatsenko et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ultrasound of the male genital tract in relation to male reproductive health

(2014) F. Lotti et al.   HUMAN REPRODUCTION UPDATE

Truncating mutations inTAF4BandZMYND15causing recessive azoospermia

(2014) Özgecan Ayhan et al.   JOURNAL OF MEDICAL GENETICS

Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

(2012) D.J. Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Rad51 Paralog Complexes BCDX2 and CX3 Act at Different Stages in the BRCA1-BRCA2-Dependent Homologous Recombination Pathway

(2012) J. Chun et al.   MOLECULAR AND CELLULAR BIOLOGY

Rad51 Is an Accessory Factor for Dmc1-Mediated Joint Molecule Formation During Meiosis

(2012) V. Cloud et al.   SCIENCE

Role of Genetics in Azoospermia

(2011) Joo Yeon Lee et al.   UROLOGY

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

(2010) Anu Bashamboo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Mutations in SOHLH1 gene associate with nonobstructive Azoospermia

(2010) Youngsok Choi et al.   HUMAN MUTATION

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

SNP detection for massively parallel whole-genome resequencing

(2009) R. Li et al.   GENOME RESEARCH

The biology of infertility: research advances and clinical challenges

(2008) Martin M Matzuk et al.   NATURE MEDICINE