Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges

(2021) Jean-Marc Good et al.   Genes

Human testis-expressed (TEX) genes: a review focused on spermatogenesis and male fertility

(2021) Hela Bellil et al.   Basic and Clinical Andrology

Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB

(2021) Yufan Wu et al.   HUMAN REPRODUCTION

A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene–disease relationships

(2021) Brendan J Houston et al.   HUMAN REPRODUCTION UPDATE

The combined action of CTCF and its testis-specific paralog BORIS is essential for spermatogenesis

(2021) Samuel Rivero-Hinojosa et al.   Nature Communications

Will whole-genome sequencing become the first-line genetic analysis for male infertility in the near future?

(2021) Farah Ghieh et al.   Basic and Clinical Andrology

Identification of genomic imbalances (CNVs as well as LOH) in sertoli cell only syndrome cases through cytoscan microarray

(2021) Aiyush Sharma et al.   GENE

Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?

(2021) Farah Ghieh et al.   Basic and Clinical Andrology

A genomics approach to male infertility

(2020) Naif Alhathal et al.   GENETICS IN MEDICINE

Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

(2020) Csilla Krausz et al.   GENETICS IN MEDICINE

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

(2020) Sylvie Jaillard et al.   MOLECULAR HUMAN REPRODUCTION

GTPases Arf5 and Arl2 function partially distinctly during oocyte meiosis

(2020) Chun‐Xiang Zhou et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Exo1 recruits Cdc5 polo kinase to MutLγ to ensure efficient meiotic crossover formation

(2020) Aurore Sanchez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gene expression across mammalian organ development

(2019) Margarida Cardoso-Moreira et al.   NATURE

Sperm recovery and ICSI outcomes in men with non-obstructive azoospermia: a systematic review and meta-analysis

(2019) Giovanni Corona et al.   HUMAN REPRODUCTION UPDATE

OUP accepted manuscript

(2018)   BIOINFORMATICS

A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family

(2018) M Ben Khelifa et al.   HUMAN REPRODUCTION

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

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

New insights into the morphological and hormonal characteristics of spermatogenic arrest

(2018) Anne-Laure Barbotin et al.   ANDROLOGIA

Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity

(2018) Pascale Richard et al.   CLINICAL GENETICS

Genome-wide differential methylation analyses identifies methylation signatures of male infertility

(2018) Kumar Mohanty Sujit et al.   HUMAN REPRODUCTION

Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation

(2017) Abdulmoein Eid Al-Agha et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Comprehensive Guide to the MAGE Family of Ubiquitin Ligases

(2017) Anna K. Lee et al.   JOURNAL OF MOLECULAR BIOLOGY

Copy number variations in testicular maturation arrest

(2017) A. Halder et al.   Andrology

Spermatogenesis associated 22 is required for DNA repair and synapsis of homologous chromosomes in mouse germ cells

(2017) E. Hays et al.   Andrology

Mutations in the MOV10L1 ATP Hydrolysis Motif Cause piRNA Biogenesis Failure and Male Sterility in Mice

(2016) Q. Fu et al.   BIOLOGY OF REPRODUCTION

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

(2016) Elena J. Tucker et al.   ENDOCRINE REVIEWS

Repair of Meiotic DNA Breaks and Homolog Pairing in Mouse Meiosis Requires a Minichromosome Maintenance (MCM) Paralog

(2016) Adrian J. McNairn et al.   GENETICS

Meiotic DNA break formation requires the unsynapsed chromosome axis-binding protein IHO1 (CCDC36) in mice

(2016) Marcello Stanzione et al.   NATURE CELL BIOLOGY

The TopoVIB-Like protein family is required for meiotic DNA double-strand break formation

(2016) T. Robert et al.   SCIENCE

Alignment of Homologous Chromosomes and Effective Repair of Programmed DNA Double-Strand Breaks during Mouse Meiosis Require the Minichromosome Maintenance Domain Containing 2 (MCMDC2) Protein

(2016) Friederike Finsterbusch et al.   PLoS Genetics

Repair of Meiotic DNA Breaks and Homolog Pairing in Mouse Meiosis Requires a Minichromosome Maintenance (MCM) Paralog

(2016) Adrian J. McNairn et al.   GENETICS

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

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

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

The ReproGenomics Viewer: an integrative cross-species toolbox for the reproductive science community

(2015) Thomas A. Darde et al.   NUCLEIC ACIDS RESEARCH

Whole-genome CNV analysis: advances in computational approaches

(2015) Mehdi Pirooznia et al.   Frontiers in Genetics

Association of MOV10L1 gene polymorphisms and male infertility in azoospermic men with complete maturation arrest

(2014) Homa Sarkardeh et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency

(2014) Liat de Vries et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The evolution of lncRNA repertoires and expression patterns in tetrapods

(2014) Anamaria Necsulea et al.   NATURE

Mammalian Exo1 encodes both structural and catalytic functions that play distinct roles in essential biological processes

(2013) S. Schaetzlein et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expression analysis of MND1/GAJ, SPATA22, GAPDHS and ACR genes in testicular biopsies from non-obstructive azoospermia (NOA) patients

(2013) Andriy Dorosh et al.   Reproductive Biology and Endocrinology

European Association of Urology Guidelines on Male Infertility: The 2012 Update

(2012) Andreas Jungwirth et al.   EUROPEAN UROLOGY

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

(2012) Kristen Lipscomb Sund et al.   GENETICS IN MEDICINE

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents

(2012) Klaas J. Wierenga et al.   GENETICS IN MEDICINE

The male germ cell gene regulator CTCFL is functionally different from CTCF and binds CTCF-like consensus sites in a nucleosome composition-dependent manner

(2012) Frank Sleutels et al.   Epigenetics & Chromatin

Spata22, a Novel Vertebrate-Specific Gene, Is Required for Meiotic Progress in Mouse Germ Cells1

(2011) Sophie La Salle et al.   BIOLOGY OF REPRODUCTION

Transcription Factor BORIS (Brother of the Regulator of Imprinted Sites) Directly Induces Expression of a Cancer-Testis Antigen, TSP50, through Regulated Binding of BORIS to the Promoter

(2011) Natsuki Kosaka-Suzuki et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Expression of a Testis-Specific Form of Gal3st1 (CST), a Gene Essential for Spermatogenesis, Is Regulated by the CTCF Paralogous Gene BORIS

(2010) T. Suzuki et al.   MOLECULAR AND CELLULAR BIOLOGY

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

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

Mouse MOV10L1 associates with Piwi proteins and is an essential component of the Piwi-interacting RNA (piRNA) pathway

(2010) K. Zheng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MOV10L1 is necessary for protection of spermatocytes against retrotransposons by Piwi-interacting RNAs

(2010) R. J. A. Frost et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical data and parenthood of 63 infertile and Y-microdeleted men

(2008) Catherine Patrat et al.   FERTILITY AND STERILITY

The biology of infertility: research advances and clinical challenges

(2008) Martin M Matzuk et al.   NATURE MEDICINE