Low-frequency germline variants across 6p22.2–6p21.33 are associated with non-obstructive azoospermia in Han Chinese men

Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks

(2014) Gina M. Peloso et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease

(2014) Julia Kozlitina et al.   NATURE GENETICS

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits

(2014) Paul L Auer et al.   NATURE GENETICS

Association analysis identifies new risk loci for non-obstructive azoospermia in Chinese men

(2014) Zhibin Hu et al.   Nature Communications

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

A Genome-wide Association Study Reveals that Variants within the HLA Region Are Associated with Risk for Nonobstructive Azoospermia

(2012) Han Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Optimal tests for rare variant effects in sequencing association studies

(2012) S. Lee et al.   BIOSTATISTICS

Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility

(2012) Guixiang Ji et al.   BMC Medicine

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

(2012) Jeroen R Huyghe et al.   NATURE GENETICS

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS GENETICS

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Genome-Wide Association Study Implicates Testis-Sperm Specific FKBP6 as a Susceptibility Locus for Impaired Acrosome Reaction in Stallions

(2012) Terje Raudsepp et al.   PLoS Genetics

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Andrology in China: current status and 10 years’ progress

(2011) Kai Hong et al.   ASIAN JOURNAL OF ANDROLOGY

A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia

(2011) Zhibin Hu et al.   NATURE GENETICS

A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese

(2011) Zhibin Hu et al.   NATURE GENETICS

Defective CFTR-Dependent CREB Activation Results in Impaired Spermatogenesis and Azoospermia

(2011) Wen Ming Xu et al.   PLoS One

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

(2010) Anu Bashamboo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LocusZoom: regional visualization of genome-wide association scan results

(2010) R. J. Pruim et al.   BIOINFORMATICS

The genetic causes of male factor infertility: A review

(2010) Katherine L. O'Flynn O'Brien et al.   FERTILITY AND STERILITY

Changes in the Expression Profile of the Meiosis-Involved Mismatch Repair Genes in Impaired Human Spermatogenesis

(2010) E. Terribas et al.   JOURNAL OF ANDROLOGY

Variance component model to account for sample structure in genome-wide association studies

(2010) Hyun Min Kang et al.   NATURE GENETICS

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

Alterations in the steroid hormone receptor co-chaperone FKBPL are associated with male infertility: a case-control study

(2010) Olaf Sunnotel et al.   Reproductive Biology and Endocrinology

The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia

(2009) Keqian Xu et al.   CLINICA CHIMICA ACTA

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

A Genome-Wide Association Study of Hypertension and Blood Pressure in African Americans

(2009) Adebowale Adeyemo et al.   PLoS Genetics

Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data

(2008) Bingshan Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Histone H1 and its isoforms: Contribution to chromatin structure and function

(2008) Nicole Happel et al.   GENE