Improved phenotypic classification of male infertility to promote discovery of genetic causes

DNA damage in testicular germ cells and spermatozoa. When and how is it induced? How should we measure it? What does it mean?

(2023) Robert John Aitken et al.   Andrology

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

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

The European Academy of Andrology (EAA) ultrasound study on healthy, fertile men: an overview on male genital tract ultrasound reference ranges

(2022) Francesco Lotti   Andrology

Standards in semen examination: publishing reproducible and reliable data based on high-quality methodology

(2022) Lars Björndahl et al.   HUMAN REPRODUCTION

A brief history of human disease genetics

(2020) Melina Claussnitzer et al.   NATURE

Non-surgical Management of Oligozoospermia

(2020) Jeremy T Choy et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Diagnosis and Treatment of Infertility in Men: AUA/ASRM Guideline PART II

(2020) Peter N. Schlegel et al.   JOURNAL OF UROLOGY

The Human Phenotype Ontology in 2021

(2020) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

A systematic review and standardized clinical validity assessment of male infertility genes

(2019) Manon S Oud et al.   HUMAN REPRODUCTION

Clinical Management of Congenital Hypogonadotropic Hypogonadism

(2019) Jacques Young et al.   ENDOCRINE REVIEWS

Assisted oocyte activation significantly increases fertilization and pregnancy outcome in patients with low and total failed fertilization after intracytoplasmic sperm injection: a 17-year retrospective study

(2019) Davina Bonte et al.   FERTILITY AND STERILITY

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

(2019) Anu Sironen et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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 Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

(2019) Kent A Shefchek et al.   NUCLEIC ACIDS RESEARCH

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermia

(2019) M S Oud et al.   HUMAN REPRODUCTION

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

OUP accepted manuscript

(2018)   HUMAN REPRODUCTION

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

A Search for Disorders of Sex Development among Infertile Men

(2018) Rafael S. Yabiku et al.   Sexual Development

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

The Catsper channel and its roles in male fertility: a systematic review

(2017) Xiang-hong Sun et al.   Reproductive Biology and Endocrinology

Concepts in diagnosis and therapy for male reproductive impairment

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

Clinical Practice Guidelines for Rare Diseases: The Orphanet Database

(2017) Sonia Pavan et al.   PLoS One

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Comparison of microdissection testicular sperm extraction, conventional testicular sperm extraction, and testicular sperm aspiration for nonobstructive azoospermia: a systematic review and meta-analysis

(2015) Aaron M. Bernie et al.   FERTILITY AND STERILITY

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

(2015) V. Vloeberghs et al.   HUMAN REPRODUCTION

Standardized phenotyping enhances Mendelian disease gene identification

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

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

(2015) Nadia Akawi et al.   NATURE GENETICS

European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

(2015) Ulrich Boehm et al.   Nature Reviews Endocrinology

A unique view on male infertility around the globe

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

Ultrasound of the male genital tract in relation to male reproductive health

(2014) F. Lotti et al.   HUMAN REPRODUCTION UPDATE

Epidemiology; diagnosis, and treatment of male hypogonadotropic hypogonadism

(2014) A. Lenzi et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Obstructive Azoospermia

(2013) Matthew S. Wosnitzer et al.   UROLOGIC CLINICS OF NORTH AMERICA

Outcome of microdissection TESE compared with conventional TESE in non-obstructive azoospermia: a systematic review

(2013) Y. Deruyver et al.   Andrology

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

(2012) Ana Rath et al.   HUMAN MUTATION

Approach to the Male Patient with Congenital Hypogonadotropic Hypogonadism

(2012) Jacques Young   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Male infertility: Pathogenesis and clinical diagnosis

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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS