Analysis of copy number variation in men with non‐obstructive azoospermia

Genetic Architecture of Azoospermia—Time to Advance the Standard of Care

(2022) Margot J. Wyrwoll et al.   EUROPEAN UROLOGY

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 second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia

(2020) Mahdieh Pashaei et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Whole-Exome Sequencing of a Large Chinese Azoospermia and Severe Oligospermia Cohort Identifies Novel Infertility Causative Variants and Genes

(2020) Shitao Chen et al.   HUMAN MOLECULAR GENETICS

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

(2020) Csilla Krausz et al.   GENETICS IN MEDICINE

Whole-exome sequencing in patients with premature ovarian insufficiency: early detection and early intervention

(2020) Hongli Liu et al.   Journal of Ovarian Research

Comprehensive analysis of mouse CTA functions in cancer cells and roles of TEKT5 in cancer cells and testicular germ cells

(2019) Nana Aoki et al.   MOLECULAR AND CELLULAR BIOLOGY

Sequence analysis of 37 candidate genes for male infertility: Challenges in variant assessment and validating genes

(2019) Thais Fenz Araujo et al.   Andrology

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

The X chromosome and male infertility

(2019) Matthias Vockel et al.   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

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

Mouse Genome Database (MGD) 2019

(2018) Carol J Bult et al.   NUCLEIC ACIDS RESEARCH

Increasing the diagnostic yield of exome sequencing by copy number variant analysis

(2018) Daniel S. Marchuk et al.   PLoS One

Recurrent deletions of the X chromosome linked CNV64, CNV67, and CNV69 shows geographic differences across China and no association with idiopathic infertility in men

(2017) Xiulan Ma et al.   PLoS One

Expanding the genotypic spectrum of Perrault syndrome

(2016) L.A.M. Demain et al.   CLINICAL GENETICS

Mutations in Genes Coding for Synaptonemal Complex Proteins and Their Impact on Human Fertility

(2016) Adriana Geisinger et al.   CYTOGENETIC AND GENOME RESEARCH

A Screen for Genomic Disorders of Infertility Identifies MAST2 Duplications Associated with Nonobstructive Azoospermia in Humans1

(2015) Ni Huang et al.   BIOLOGY OF REPRODUCTION

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

How successful is TESE-ICSI in couples with non-obstructive azoospermia?

(2015) V. Vloeberghs et al.   HUMAN REPRODUCTION

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia

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

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

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

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

A unique view on male infertility around the globe

(2015) Ashok Agarwal et al.   Reproductive Biology and Endocrinology

Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors

(2013) S. Gispert et al.   HUMAN MOLECULAR GENETICS

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

(2013) Alexandra M. Lopes et al.   PLoS Genetics

High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males

(2012) Csilla Krausz et al.   PLoS One

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype

(2011) Chantal Stoepker et al.   NATURE GENETICS

Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia

(2011) Gerry P Crossan et al.   NATURE GENETICS

Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome

(2011) Frank Tüttelmann et al.   PLoS One

A Novel Mouse Synaptonemal Complex Protein Is Essential for Loading of Central Element Proteins, Recombination, and Fertility

(2011) Sabine Schramm et al.   PLoS Genetics

Mammalian BTBD12 (SLX4) Protects against Genomic Instability during Mammalian Spermatogenesis

(2011) J. Kim Holloway et al.   PLoS Genetics

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY