Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure

(2021) Jimmaline J. Hardy et al.   HUMAN GENETICS

Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility

(2020) Margot J. Wyrwoll et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics

(2020) Maram Arafat et al.   JOURNAL OF MEDICAL GENETICS

Molecular histology of spermatogenesis in the Japanese macaque monkey (Macaca fuscata)

(2020) Sawako Okada et al.   PRIMATES

Male infertility

(2020) Ashok Agarwal et al.   LANCET

A new MEIOB mutation is a recurrent cause for azoospermia and testicular meiotic arrest

(2019) Moran Gershoni et al.   HUMAN REPRODUCTION

A systematic review and standardized clinical validity assessment of male infertility genes

(2019) Manon S Oud et al.   HUMAN REPRODUCTION

SUMOylation promotes protective responses to DNA‐protein crosslinks

(2019) Nikoline Borgermann et al.   EMBO JOURNAL

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility

(2019) Samantha L.P. Schilit et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GCNA Interacts with Spartan and Topoisomerase II to Regulate Genome Stability

(2019) Gregoriy A. Dokshin et al.   DEVELOPMENTAL CELL

GCNA Preserves Genome Integrity and Fertility Across Species

(2019) Varsha Bhargava et al.   DEVELOPMENTAL CELL

PNLDC1, mouse pre‐piRNA Trimmer, is required for meiotic and post‐meiotic male germ cell development

(2018) Toru Nishimura et al.   EMBO REPORTS

Disorders of spermatogenesis

(2018) Frank Tüttelmann et al.   Medizinische Genetik

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

(2018) Laura Kasak et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes

(2017) Moran Gershoni et al.   GENETICS IN MEDICINE

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men

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

Mechanism and Regulation of DNA-Protein Crosslink Repair by the DNA-Dependent Metalloprotease SPRTN

(2016) Julian Stingele et al.   MOLECULAR CELL

A widely employed germ cell marker is an ancient disordered protein with reproductive functions in diverse eukaryotes

(2016) Michelle A Carmell et al.   eLife

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

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

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

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

The genetics of human infertility by functional interrogation of SNPs in mice

(2015) Priti Singh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Piwi and Potency: PIWI Proteins in Animal Stem Cells and Regeneration

(2014) J. C. van Wolfswinkel   INTEGRATIVE AND COMPARATIVE BIOLOGY

Truncating mutations inTAF4BandZMYND15causing recessive azoospermia

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

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

(2014) Janan T. Eppig et al.   NUCLEIC ACIDS RESEARCH

CUA Guideline: The workup of azoospermic males

(2012) Keith Jarvi   CUAJ-Canadian Urological Association Journal

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

(2010) A. McKenna et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Effects of heme oxygenase isozymes on Leydig cells steroidogenesis

(2009) Barbara Piotrkowski et al.   JOURNAL OF ENDOCRINOLOGY