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

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Comprehensive genetic testing for female and male infertility using next-generation sequencing

(2018) Bonny Patel et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Creation of knock out and knock in mice by CRISPR/Cas9 to validate candidate genes for human male infertility, interest, difficulties and feasibility

(2018) Zine-Eddine Kherraf et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Cost-effectiveness analyses of genetic and genomic diagnostic tests

(2018) Katherine Payne et al.   NATURE REVIEWS GENETICS

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

Genetics of the human Y chromosome and its association with male infertility

(2018) Stacy Colaco et al.   Reproductive Biology and Endocrinology

The adult human testis transcriptional cell atlas

(2018) Jingtao Guo et al.   CELL RESEARCH

The Mammalian Spermatogenesis Single-Cell Transcriptome, from Spermatogonial Stem Cells to Spermatids

(2018) Brian P. Hermann et al.   Cell Reports

Recent developments in genetics and medically assisted reproduction: from research to clinical applications

(2017) J. C. Harper et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2017) Manon S. Oud et al.   HUMAN MUTATION

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

(2017) Erica D. Smith et al.   HUMAN MUTATION

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

Evolving health care through personal genomics

(2017) Heidi L. Rehm   NATURE REVIEWS GENETICS

Settling the score: variant prioritization and Mendelian disease

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Mouse Genome Database (MGD)-2018: knowledgebase for the laboratory mouse

(2017) Cynthia L Smith et al.   NUCLEIC ACIDS RESEARCH

Genetic abnormalities leading to qualitative defects of sperm morphology or function

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

Misleading reporting and interpretation of results in major infertility journals

(2016) Demian Glujovsky et al.   FERTILITY AND STERILITY

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

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

(2016) Monkol Lek et al.   NATURE

The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible

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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

Genetic aspects of monomorphic teratozoospermia: a review

(2015) Marc De Braekeleer et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Is there a robust future for research in reproduction?

(2015) Christopher L.R. Barratt   MOLECULAR HUMAN REPRODUCTION

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Genotypes and Phenotypes in Cystic Fibrosis and Cystic Fibrosis Transmembrane Regulator–Related Disorders

(2015) Cristina Bombieri et al.   SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE

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

(2014) P. de Boer et al.   Andrology

The wobbly evidence base of reproductive medicine

(2013) J.L.H. Evers   REPRODUCTIVE BIOMEDICINE ONLINE

The Epidemiology of Male Infertility

(2013) Brian R. Winters et al.   UROLOGIC CLINICS OF NORTH AMERICA

SEPTIN12 Genetic Variants Confer Susceptibility to Teratozoospermia

(2012) Ying-Hung Lin et al.   PLoS One

A newly discovered mutation in PICK1 in a human with globozoospermia

(2010) Gang Liu et al.   ASIAN JOURNAL OF ANDROLOGY

Mouse models in male fertility research

(2010) Duangporn Jamsai et al.   ASIAN JOURNAL OF ANDROLOGY

The International Committee for Monitoring Assisted Reproductive Technology (ICMART) and the World Health Organization (WHO) Revised Glossary on ART Terminology, 2009

(2009) F. Zegers-Hochschild et al.   HUMAN REPRODUCTION

PICK1 deficiency causes male infertility in mice by disrupting acrosome formation

(2009) Nan Xiao et al.   JOURNAL OF CLINICAL INVESTIGATION

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS