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

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

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

(2016) Monkol Lek et al.   NATURE

Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia

(2015) Ranjith Ramasamy et al.   FERTILITY AND STERILITY

Exome sequencing reveals a nonsense mutation inTEX15causing spermatogenic failure in a Turkish family

(2015) Ozlem Okutman et al.   HUMAN MOLECULAR GENETICS

A unique view on male infertility around the globe

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

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

Inhibition of WNK3 Kinase Signaling Reduces Brain Damage and Accelerates Neurological Recovery After Stroke

(2015) Gulnaz Begum et al.   STROKE

Outcome of microsurgical testicular sperm extraction in familial idiopathic nonobstructive azoospermia

(2014) M. M. Arafa et al.   ANDROLOGIA

H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data

(2014) Alberto Magi et al.   BIOINFORMATICS

Truncating mutations inTAF4BandZMYND15causing recessive azoospermia

(2014) Özgecan Ayhan et al.   JOURNAL OF MEDICAL GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

A mammalian KASH domain protein coupling meiotic chromosomes to the cytoskeleton

(2013) Henning F. Horn et al.   JOURNAL OF CELL BIOLOGY

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Mendelian genetics of male infertility

(2011) Kathleen Hwang et al.   Annals of the New York Academy of Sciences

Role of Genetics in Azoospermia

(2011) Joo Yeon Lee et al.   UROLOGY

The Power of Mouse Genetics to Study Spermatogenesis

(2010) A. N. Yatsenko et al.   JOURNAL OF ANDROLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

World Health Organization reference values for human semen characteristics*‡

(2009) Trevor G. Cooper et al.   HUMAN REPRODUCTION UPDATE

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Nanos2 suppresses meiosis and promotes male germ cell differentiation

(2008) A. Suzuki et al.   GENES & DEVELOPMENT

Rare independent mutations in renal salt handling genes contribute to blood pressure variation

(2008) Weizhen Ji et al.   NATURE GENETICS

The biology of infertility: research advances and clinical challenges

(2008) Martin M Matzuk et al.   NATURE MEDICINE