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

Runs of Homozygosity Implicate Autozygosity as a Schizophrenia Risk Factor

(2014) Matthew C. Keller et al.   PLoS Genetics

Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development

(2012) S. Ledig et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Array comparative genomic hybridization in male infertility

(2012) K. Stouffs et al.   HUMAN REPRODUCTION

Reproductive Technologies and the Risk of Birth Defects

(2012) Michael J. Davies et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2012) Csilla Krausz et al.   PLoS One

DPY19L2 Deletion as a Major Cause of Globozoospermia

(2011) Isabelle Koscinski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Male infertility: Pathogenesis and clinical diagnosis

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

Quantification of Inbreeding Due to Distant Ancestors and Its Detection Using Dense Single Nucleotide Polymorphism Data

(2011) Matthew C. Keller et al.   GENETICS

Additional genomic duplications in AZFc underlie the b2/b3 deletion-associated risk of spermatogenic impairment in Han Chinese population

(2011) Chuncheng Lu et al.   HUMAN MOLECULAR GENETICS

Aberrations in Pseudoautosomal Regions (PARs) Found in Infertile Men with Y-Chromosome Microdeletions

(2011) Carolina J. Jorgez et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2011) Zhibin Hu et al.   NATURE GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia

(2011) Dheeraj Malhotra et al.   NEURON

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

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

(2011) Frank Tüttelmann et al.   PLoS One

High-Resolution Detection of Identity by Descent in Unrelated Individuals

(2010) Sharon R. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

(2010) Dorien Lugtenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus

(2010) Jae-Pil Jeon et al.   BMC GENOMICS

Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations

(2010) Victor Enciso-Mora et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Regions of homozygosity and their impact on complex diseases and traits

(2010) Chee Seng Ku et al.   HUMAN GENETICS

Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci

(2010) S. Ledig et al.   HUMAN REPRODUCTION

Comprehensive 5-Year Study of Cytogenetic Aberrations in 668 Infertile Men

(2010) Alexander N. Yatsenko et al.   JOURNAL OF UROLOGY

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

(2010) Mounia Tannour-Louet et al.   PLoS One

Genome-wide analysis of DNA binding and transcriptional regulation by the mammalian Doublesex homolog DMRT1 in the juvenile testis

(2010) M. W. Murphy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deciphering Genetic Disease in the Genomic Era: The Model of GnRH Deficiency

(2010) G. P. Sykiotis et al.   Science Translational Medicine

SPANX Gene Variation in Fertile and Infertile Males

(2010) Sierra Hansen et al.   Systems Biology in Reproductive Medicine

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Joint estimation of copy number variation and reference intensities on multiple DNA arrays using GADA

(2009) Roger Pique-Regi et al.   BIOINFORMATICS

The Role of DNA Copy Number Variation in Schizophrenia

(2009) Gloria W.C. Tam et al.   BIOLOGICAL PSYCHIATRY

Copy number variation in the human genome and its implication in autoimmunity

(2009) H. Schaschl et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus

(2009) T. Ptacek et al.   CYTOGENETIC AND GENOME RESEARCH

Chromosome copy number variation and breast cancer risk

(2009) S. Tchatchou et al.   CYTOGENETIC AND GENOME RESEARCH

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

(2009) Michela Barbaro et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

The avian Z-linked gene DMRT1 is required for male sex determination in the chicken

(2009) Craig A. Smith et al.   NATURE

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer’s disease

(2009) M. A. Nalls et al.   NEUROGENETICS

Sensitive Detection of Chromosomal Segments of Distinct Ancestry in Admixed Populations

(2009) Alkes L. Price et al.   PLoS Genetics

Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygousLRP2mutation due to complete chromosome 2 paternal isodisomy

(2008) Sibel Kantarci et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Partial AZFc deletions and duplications: clinical correlates in the Italian population

(2008) Claudia Giachini et al.   HUMAN GENETICS

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

(2008) Joshua M Korn et al.   NATURE GENETICS

The biology of infertility: research advances and clinical challenges

(2008) Martin M Matzuk et al.   NATURE MEDICINE

A Mouse Speciation Gene Encodes a Meiotic Histone H3 Methyltransferase

(2008) O. Mihola et al.   SCIENCE