Published in PLoS One on October 26, 2010
DMRT1 prevents female reprogramming in the postnatal mammalian testis. Nature (2011) 2.53
Sex and the singular DM domain: insights into sexual regulation, evolution and plasticity. Nat Rev Genet (2012) 1.59
Genetic causes of spermatogenic failure. Asian J Androl (2011) 1.51
Diacylglycerol kinase K variants impact hypospadias in a California study population. J Urol (2012) 1.43
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One (2011) 1.32
Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet (2012) 1.18
Environmental and genetic contributors to hypospadias: a review of the epidemiologic evidence. Birth Defects Res A Clin Mol Teratol (2012) 1.17
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genet (2013) 1.08
An ancient protein-DNA interaction underlying metazoan sex determination. Nat Struct Mol Biol (2015) 0.98
Sexual cell-fate reprogramming in the ovary by DMRT1. Curr Biol (2015) 0.92
DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol (2014) 0.91
The molecular and cellular basis of gonadal sex reversal in mice and humans. Wiley Interdiscip Rev Dev Biol (2012) 0.91
Disorders of sex development: effect of molecular diagnostics. Nat Rev Endocrinol (2015) 0.90
Timing of androgen receptor disruption and estrogen exposure underlies a spectrum of congenital penile anomalies. Proc Natl Acad Sci U S A (2015) 0.86
Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. Dis Model Mech (2012) 0.86
Copy number variation in the horse genome. PLoS Genet (2014) 0.86
Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies. BMC Med Genomics (2013) 0.84
Sex and the circuitry: progress toward a systems-level understanding of vertebrate sex determination. Wiley Interdiscip Rev Syst Biol Med (2012) 0.84
Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet (2013) 0.83
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One (2014) 0.83
CNV analysis in 169 patients with bladder exstrophy-epispadias complex. BMC Med Genet (2016) 0.82
Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action. Nat Med (2014) 0.81
Regulatory element copy number differences shape primate expression profiles. Proc Natl Acad Sci U S A (2012) 0.81
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. Hum Genet (2013) 0.81
Tissue-specific roles of Fgfr2 in development of the external genitalia. Development (2015) 0.80
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1. Eur J Med Genet (2013) 0.79
Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development. PLoS One (2013) 0.78
Genomic and genetic variation in E2F transcription factor-1 in men with nonobstructive azoospermia. Fertil Steril (2014) 0.78
Submicroscopic copy-number variations associated with 46,XY disorders of sex development. Mol Cell Pediatr (2015) 0.78
Integrated small copy number variations and epigenome maps of disorders of sex development. Hum Genome Var (2016) 0.78
Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis. J Assist Reprod Genet (2014) 0.77
The evolution of the search for novel genes in mammalian sex determination: from mice to men. Mol Genet Metab (2011) 0.76
Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. Am J Med Genet A (2013) 0.76
Small copy-number variations involving genes of the FGF pathway in differences in sex development. Hum Genome Var (2017) 0.75
Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure. Andrology (2015) 0.75
Copy number variations in the genome of the Qatari population. BMC Genomics (2015) 0.75
Adult Gli2+/-;Gli3Δ699/+ Male and Female Mice Display a Spectrum of Genital Malformation. PLoS One (2016) 0.75
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development. Sci Rep (2017) 0.75
A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies. Fertil Steril (2014) 0.75
Pediatrics: Genomic studies of sex development. Nat Rev Urol (2011) 0.75
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science (2005) 17.00
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature (2006) 9.30
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet (2006) 5.59
Genomic rearrangements and sporadic disease. Nat Genet (2007) 5.28
The biology of infertility: research advances and clinical challenges. Nat Med (2008) 4.62
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation. Genes Dev (2000) 3.24
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet (2007) 2.59
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med (2008) 2.36
Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad. Development (2003) 2.10
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
Genomic copy number variation, human health, and disease. Lancet (2009) 1.99
Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal. Hum Mol Genet (2008) 1.90
Autosomal XX sex reversal caused by duplication of SOX9. Am J Med Genet (1999) 1.87
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet (1994) 1.78
Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. Am J Hum Genet (2001) 1.68
The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location. J Urol (2008) 1.53
Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination. Proc Natl Acad Sci U S A (2007) 1.44
Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet (1997) 1.41
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet (2007) 1.36
The makings of maleness: towards an integrated view of male sexual development. Nat Rev Genet (2006) 1.35
Generation of the floxed allele of the SIP1 (Smad-interacting protein 1) gene for Cre-mediated conditional knockout in the mouse. Genesis (2002) 1.34
Role of hormones, genes, and environment in human cryptorchidism. Endocr Rev (2008) 1.34
Cryptorchidism: classification, prevalence and long-term consequences. Acta Paediatr (2007) 1.31
Endocrine disruptors, genital development, and hypospadias. J Androl (2008) 1.22
Loss of Fgfr2 leads to partial XY sex reversal. Dev Biol (2007) 1.19
Smad-interacting protein-1 (Zfhx1b) acts upstream of Wnt signaling in the mouse hippocampus and controls its formation. Proc Natl Acad Sci U S A (2007) 1.12
FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias. Eur J Hum Genet (2007) 1.09
Nucleo-cytoplasmic shuttling of human Kank protein accompanies intracellular translocation of beta-catenin. J Cell Sci (2006) 0.95
Cryptorchidism and hypospadias. J Urol (2007) 0.93
Early management and gender assignment in disorders of sexual differentiation. Endocr Dev (2007) 0.86
Chromosomal anomalies in cryptorchidism and hypospadias. J Urol (2002) 0.84
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
Aging hematopoietic stem cells decline in function and exhibit epigenetic dysregulation. PLoS Biol (2007) 5.48
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet (2008) 4.87
The biology of infertility: research advances and clinical challenges. Nat Med (2008) 4.62
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster. Nat Genet (2008) 4.10
Hematopoietic fingerprints: an expression database of stem cells and their progeny. Cell Stem Cell (2007) 4.06
Genetic dissection of mammalian fertility pathways. Nat Cell Biol (2002) 3.99
Molecular signatures of proliferation and quiescence in hematopoietic stem cells. PLoS Biol (2004) 3.94
Inhibition of SIRT1 reactivates silenced cancer genes without loss of promoter DNA hypermethylation. PLoS Genet (2006) 3.54
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS One (2007) 3.53
A SUMOylation-dependent transcriptional subprogram is required for Myc-driven tumorigenesis. Science (2011) 3.49
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet (2009) 3.42
Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med (2005) 3.39
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase. Cell (2011) 3.27
Absence of the SRC-2 coactivator results in a glycogenopathy resembling Von Gierke's disease. Science (2008) 3.17
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell (2011) 3.03
Detection of clinically relevant exonic copy-number changes by array CGH. Hum Mutat (2010) 2.93
Increased risk of cancer among azoospermic men. Fertil Steril (2013) 2.82
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med (2006) 2.78
22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet (2008) 2.71
Members of the H3K4 trimethylation complex regulate lifespan in a germline-dependent manner in C. elegans. Nature (2010) 2.67
A renewable tissue resource of phenotypically stable, biologically and ethnically diverse, patient-derived human breast cancer xenograft models. Cancer Res (2013) 2.63
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet (2009) 2.50
Increased LIS1 expression affects human and mouse brain development. Nat Genet (2009) 2.45
FilmArray, an automated nested multiplex PCR system for multi-pathogen detection: development and application to respiratory tract infection. PLoS One (2011) 2.38
Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med (2008) 2.36
Disruption of the circadian clock within the cardiomyocyte influences myocardial contractile function, metabolism, and gene expression. Am J Physiol Heart Circ Physiol (2007) 2.17
Protein interactome reveals converging molecular pathways among autism disorders. Sci Transl Med (2011) 2.04
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet (2009) 2.00
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics (2008) 2.00
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med (2007) 1.98
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet (2009) 1.98
Retroviral vector insertion sites associated with dominant hematopoietic clones mark "stemness" pathways. Blood (2006) 1.98
The circadian clock within the cardiomyocyte is essential for responsiveness of the heart to fatty acids. J Biol Chem (2006) 1.94
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet (2011) 1.93
Maintenance of spermatogenesis requires TAF4b, a gonad-specific subunit of TFIID. Genes Dev (2005) 1.92
Cellular energy depletion resets whole-body energy by promoting coactivator-mediated dietary fuel absorption. Cell Metab (2011) 1.89
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature (2013) 1.86
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet A (2007) 1.85
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. Proc Natl Acad Sci U S A (2012) 1.85
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet (2009) 1.84
Human platelet microRNA-mRNA networks associated with age and gender revealed by integrated plateletomics. Blood (2014) 1.81
The genetic ablation of SRC-3 protects against obesity and improves insulin sensitivity by reducing the acetylation of PGC-1{alpha}. Proc Natl Acad Sci U S A (2008) 1.80
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med (2008) 1.78
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn (2009) 1.78
Molecular definition of high-resolution multicolor banding probes: first within the human DNA sequence anchored FISH banding probe set. J Histochem Cytochem (2008) 1.71
Interleukin-8 expression is increased in senescent prostatic epithelial cells and promotes the development of benign prostatic hyperplasia. Prostate (2004) 1.71
Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria. Am J Med Genet A (2011) 1.71
De novo testosterone production in luteinizing hormone receptor knockout mice after transplantation of leydig stem cells. Endocrinology (2004) 1.68
Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans. J Infect Dis (2011) 1.67
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat (2010) 1.66
Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes. Genome Res (2008) 1.66
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med (2006) 1.63
Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1. J Exp Med (2008) 1.62
Semen quality, infertility and mortality in the USA. Hum Reprod (2014) 1.56
The array CGH and its clinical applications. Drug Discov Today (2008) 1.55
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet (2007) 1.52
Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases. Am J Med Genet A (2008) 1.51
Evidence for diversity in transcriptional profiles of single hematopoietic stem cells. PLoS Genet (2006) 1.51
The use of genomics, proteomics, and metabolomics in identifying biomarkers of male infertility. Fertil Steril (2013) 1.49
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet (2009) 1.46
Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet (2006) 1.45
Testosterone therapy and cancer risk. BJU Int (2014) 1.44
The intrinsic circadian clock within the cardiomyocyte. Am J Physiol Heart Circ Physiol (2005) 1.42
Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. Hum Mol Genet (2003) 1.42
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet (2009) 1.42
Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis. PLoS Genet (2010) 1.42
Azoospermia in patients heterozygous for a mutation in SYCP3. Lancet (2003) 1.41
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A (2009) 1.40
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet (2012) 1.40
Herbal/hormonal dietary supplement possibly associated with prostate cancer progression. Clin Cancer Res (2008) 1.39
SCARFACE encodes an ARF-GAP that is required for normal auxin efflux and vein patterning in Arabidopsis. Plant Cell (2006) 1.37
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res (2011) 1.37
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am J Med Genet A (2007) 1.37
Integrative genomic analysis of the human immune response to influenza vaccination. Elife (2013) 1.37
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet (2010) 1.36
Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet (2007) 1.36
Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am J Med Genet A (2005) 1.35
Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. PLoS Genet (2012) 1.35
Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med (2012) 1.33
Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. Am J Med Genet A (2010) 1.31
Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions. Hum Mol Genet (2003) 1.30