Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

The diagnosis of male infertility: an analysis of the evidence to support the development of global WHO guidance—challenges and future research opportunities

(2017) Christopher L R Barratt et al.   HUMAN REPRODUCTION UPDATE

Concepts in diagnosis and therapy for male reproductive impairment

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

Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens

(2016) Olivier Patat et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-Genome Sequencing of a Healthy Aging Cohort

(2016) Galina A. Erikson et al.   CELL

BRCA Testing by Single-Molecule Molecular Inversion Probes

(2016) Kornelia Neveling et al.   CLINICAL CHEMISTRY

NovelBRCA1andBRCA2Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

(2016) Robbert D.A. Weren et al.   HUMAN MUTATION

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data

(2016) Lennart F. Johansson et al.   HUMAN MUTATION

Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

(2016) Astrid Eijkelenboom et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genetics of Male Infertility

(2016) Filipe Tenorio Lira Neto et al.   Current Urology Reports

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

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

Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis

(2015) Jennifer Bonini 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

DDX3Y gene rescue of a Y chromosome AZFa deletion restores germ cell formation and transcriptional programs

(2015) Cyril Ramathal et al.   Scientific Reports

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening ofCFTR

(2015) Daniel Trujillano et al.   Molecular Genetics & Genomic Medicine

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

(2014) Evan A. Boyle et al.   BIOINFORMATICS

A Genotype-First Approach to Defining the Subtypes of a Complex Disease

(2014) Holly A. Stessman et al.   CELL

Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation DNA Sequencing

(2014) Stephanie Hallam et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

Cystic fibrosis genetics: from molecular understanding to clinical application

(2014) Garry R. Cutting   NATURE REVIEWS GENETICS

SMART: recent updates, new developments and status in 2015

(2014) Ivica Letunic et al.   NUCLEIC ACIDS RESEARCH

Ten years of next-generation sequencing technology

(2014) Erwin L. van Dijk et al.   TRENDS IN GENETICS

A mutation study of sperm head shape and motility in the mouse: lessons for the clinic

(2014) P. de Boer et al.   Andrology

A Comprehensive Assay for CFTR Mutational Analysis Using Next-Generation Sequencing

(2013) A. N. Abou Tayoun et al.   CLINICAL CHEMISTRY

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

(2013) Xander Nuttle et al.   NATURE METHODS

EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013

(2013) C. Krausz et al.   Andrology

Investigation of mutations in the synaptonemal complex protein 3 (SYCP3) gene among azoospermic infertile male patients in the Turkish population

(2012) H. Gurkan et al.   ANDROLOGIA

Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

(2012) V. Pierre et al.   DEVELOPMENT

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots

(2012) Elias ElInati et al.   HUMAN MOLECULAR GENETICS

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

DPY19L2 Deletion as a Major Cause of Globozoospermia

(2011) Isabelle Koscinski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Male infertility: Pathogenesis and clinical diagnosis

(2011) Csilla Krausz   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Kaviar: an accessible system for testing SNV novelty

(2011) Gustavo Glusman et al.   BIOINFORMATICS

Identification of the second CFTR mutation in patients with congenital bilateral absence of vas deferens undergoing ART protocols

(2010) Rossella Giuliani et al.   ASIAN JOURNAL OF ANDROLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) revised glossary of ART terminology, 2009∗

(2009) F. Zegers-Hochschild et al.   FERTILITY AND STERILITY

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population

(2009) K. Dieterich et al.   HUMAN MOLECULAR GENETICS

Meiotic failure in male mice lacking an X-linked factor

(2008) F. Yang et al.   GENES & DEVELOPMENT

The biology of infertility: research advances and clinical challenges

(2008) Martin M Matzuk et al.   NATURE MEDICINE