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

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

Single-Cell RNA Sequencing of Human, Macaque, and Mouse Testes Uncovers Conserved and Divergent Features of Mammalian Spermatogenesis

(2020) Adrienne Niederriter Shami et al.   DEVELOPMENTAL CELL

A genomics approach to male infertility

(2020) Naif Alhathal et al.   GENETICS IN MEDICINE

Disease gene discovery in male infertility: past, present and future

(2020) M. J. Xavier et al.   HUMAN GENETICS

Diagnosis and treatment of infertility in men: AUA/ASRM guideline part I

(2020) Peter N. Schlegel et al.   FERTILITY AND STERILITY

Male infertility

(2020) Ashok Agarwal et al.   LANCET

Structural Insight into DNA-Dependent Activation of Human Metalloprotease Spartan

(2019) Faxiang Li et al.   Cell Reports

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

Front Cover, Volume 40, Issue 8

(2019) Laurens Wiel et al.   HUMAN MUTATION

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

(2019) Weili Wang et al.   JOURNAL OF MEDICAL GENETICS

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

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

Characterization of telomeric repeat-containing RNA (TERRA) localization and protein interactions in primordial germ cells of the mouse†

(2018) Miguel A Brieño-Enríquez et al.   BIOLOGY OF REPRODUCTION

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2016) Michelle A Carmell et al.   eLife

Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets

(2015) Evan Z. Macosko et al.   CELL

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

(2014) Michelle A. Wood-Trageser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

(2014) Saleh AlAsiri et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

(2014) Davor Lessel et al.   NATURE GENETICS

Spartan deficiency causes genomic instability and progeroid phenotypes

(2014) Reeja S. Maskey et al.   Nature Communications

MetaDisorder: a meta-server for the prediction of intrinsic disorder in proteins

(2012) Lukasz P Kozlowski et al.   BMC BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Seq2Logo: a method for construction and visualization of amino acid binding motifs and sequence profiles including sequence weighting, pseudo counts and two-sided representation of amino acid enrichment and depletion

(2012) Martin Christen Frølund Thomsen et al.   NUCLEIC ACIDS RESEARCH

FIMO: scanning for occurrences of a given motif

(2011) Charles E. Grant et al.   BIOINFORMATICS

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

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

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

DNA Damage Response During Chromatin Remodeling in Elongating Spermatids of Mice1

(2007) Frédéric Leduc et al.   BIOLOGY OF REPRODUCTION