Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans

(2021) Suixing Fan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

(2021) Maram Arafat et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders

(2021) M S Oud et al.   HUMAN REPRODUCTION

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

Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia

(2021) Dongdong Tang et al.   Reproductive Biology and Endocrinology

Variations of C14ORF39 and SYCE1 Identified in Idiopathic Premature Ovarian Insufficiency and Nonobstructive Azoospermia

(2021) Dong Hou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2020) Csilla Krausz et al.   GENETICS IN MEDICINE

Ten points to consider when providing genetic counseling for variants of incomplete penetrance and variable expressivity detected in a prenatal setting

(2020) Idit Maya et al.   ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA

Defect in the nuclear pore membrane glycoprotein 210-like gene is associated with extreme uncondensed sperm nuclear chromatin and male infertility: a case report

(2020) Karim Arafah et al.   HUMAN REPRODUCTION

A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks

(2019) Sandrine Caburet et al.   EBioMedicine

OUP accepted manuscript

(2018)   BIOINFORMATICS

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility

(2018) Yeşerin Yıldırım et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Point-of-care whole-exome sequencing of idiopathic male infertility

(2018) Khalid A Fakhro et al.   GENETICS IN MEDICINE

A homozygous FANCM frameshift pathogenic variant causes male infertility

(2018) Hao Yin et al.   GENETICS IN MEDICINE

DMC1mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing

(2018) Wen-Bin He et al.   JOURNAL OF MEDICAL GENETICS

Strelka2: fast and accurate calling of germline and somatic variants

(2018) Sangtae Kim et al.   NATURE METHODS

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

(2018) Zine-Eddine Kherraf et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Genetic evaluation of patients with non-syndromic male infertility

(2018) Ozlem Okutman et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family

(2017) Nouha Bouali et al.   FERTILITY AND STERILITY

Mutations in MSH5 in primary ovarian insufficiency

(2017) Ting Guo et al.   HUMAN MOLECULAR GENETICS

Mutation in TDRD9 causes non-obstructive azoospermia in infertile men

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

Novel concepts in the aetiology of male reproductive impairment

(2017) Herman Tournaye et al.   Lancet Diabetes & Endocrinology

Genetic abnormalities leading to qualitative defects of sperm morphology or function

(2016) P.F. Ray et al.   CLINICAL GENETICS

Single gene defects leading to sperm quantitative anomalies

(2016) M.J. Mitchell et al.   CLINICAL 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

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

Relationship between semen production and medical comorbidity

(2015) Michael L. Eisenberg et al.   FERTILITY AND STERILITY

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

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse

(2015) Shu Ly Lim et al.   PLoS Genetics

SAMBLASTER: fast duplicate marking and structural variant read extraction

(2014) G. G. Faust et al.   BIOINFORMATICS

Mutations in HFM1 in Recessive Primary Ovarian Insufficiency

(2014) Jian Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

The importance of semen analysis in the context of azoospermia

(2013) N Aziz   Clinics

Tdrkh is essential for spermatogenesis and participates in primary piRNA biogenesis in the germline

(2013) Jonathan P Saxe et al.   EMBO JOURNAL

Mouse HFM1/Mer3 Is Required for Crossover Formation and Complete Synapsis of Homologous Chromosomes during Meiosis

(2013) Michel F. Guiraldelli et al.   PLoS Genetics

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

(2012) Vincent Plagnol et al.   BIOINFORMATICS

Clinical experience with azoospermia: aetiology and chances for spermatozoa detection upon biopsy

(2010) F. Tüttelmann et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

The biology of infertility: research advances and clinical challenges

(2008) Martin M Matzuk et al.   NATURE MEDICINE