Published in Mamm Genome on January 19, 2012
Specificity factors in cytoplasmic polyadenylation. Wiley Interdiscip Rev RNA (2013) 1.15
Disorders of sex development: new genes, new concepts. Nat Rev Endocrinol (2012) 1.12
Multimer Formation Explains Allelic Suppression of PRDM9 Recombination Hotspots. PLoS Genet (2015) 0.87
Nuclear localization of PRDM9 and its role in meiotic chromatin modifications and homologous synapsis. Chromosoma (2015) 0.86
Joint MiRNA/mRNA expression profiling reveals changes consistent with development of dysfunctional corpus luteum after weight gain. PLoS One (2015) 0.83
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet (2012) 0.78
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
The sequence of the human genome. Science (2001) 101.55
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science (2009) 8.72
Mutagenesis and mapping of a mouse gene, Clock, essential for circadian behavior. Science (1994) 7.83
Prdm9 controls activation of mammalian recombination hotspots. Science (2009) 7.02
Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol (2009) 5.45
A mouse speciation gene encodes a meiotic histone H3 methyltransferase. Science (2008) 5.35
A clock shock: mouse CLOCK is not required for circadian oscillator function. Neuron (2006) 4.91
A histone H3 methyltransferase controls epigenetic events required for meiotic prophase. Nature (2005) 4.70
The biology of infertility: research advances and clinical challenges. Nat Med (2008) 4.62
The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet (2001) 4.24
Mouse ENU mutagenesis. Hum Mol Genet (1999) 2.72
An atlas of human gene expression from massively parallel signature sequencing (MPSS). Genome Res (2005) 2.39
Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res (2006) 2.26
The genetic causes of male factor infertility: a review. Fertil Steril (2010) 2.19
Epidemiology and aetiology of male infertility. Hum Reprod (1998) 1.72
ENU mutagenesis, a way forward to understand gene function. Annu Rev Genomics Hum Genet (2008) 1.59
Sox3 expression in undifferentiated spermatogonia is required for the progression of spermatogenesis. Dev Biol (2005) 1.34
Implementing large-scale ENU mutagenesis screens in North America. Genetica (2004) 1.31
Mutation in mouse hei10, an e3 ubiquitin ligase, disrupts meiotic crossing over. PLoS Genet (2007) 1.25
Mutagenesis as an unbiased approach to identify novel contraceptive targets. Mol Cell Endocrinol (2006) 1.20
A dominant, recombination-defective allele of Dmc1 causing male-specific sterility. PLoS Biol (2007) 1.19
Male factor infertility: evaluation and management. Med Clin North Am (2004) 1.17
Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin. PLoS Genet (2009) 1.16
The complete primary structure of the human snRNP E protein. Nucleic Acids Res (1988) 1.13
The dual bromodomain and WD repeat-containing mouse protein BRWD1 is required for normal spermiogenesis and the oocyte-embryo transition. Dev Biol (2008) 1.12
Guidelines for the appropriate use of genetic tests in infertile couples. Eur J Hum Genet (2002) 1.09
The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene. N Engl J Med (2009) 1.04
Large-scale mutagenesis and phenotypic screens for the nervous system and behavior in mice. Trends Neurosci (2006) 1.01
Sperm motility defects and infertility in male mice with a mutation in Nsun7, a member of the Sun domain-containing family of putative RNA methyltransferases. Biol Reprod (2007) 0.99
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. J Clin Endocrinol Metab (2003) 0.98
Mouse models for genes involved in impaired spermatogenesis. Int J Androl (2006) 0.97
High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5. BMC Genet (2010) 0.95
Chemical mutagenesis of the mouse genome: an overview. Genetica (2004) 0.93
Trans-NIH neuroscience initiatives on mouse phenotyping and mutagenesis. Mamm Genome (2001) 0.88
Fast forward to new genes in mammalian reproduction. J Physiol (2006) 0.87
Conservation of coding and transcriptional control sequences within the snRNP E protein gene. Genomics (1992) 0.85
Male hypogonadism and germ cell loss caused by a mutation in Polo-like kinase 4. Endocrinology (2011) 0.82
An allele separating skeletal patterning and spermatogonial renewal functions of PLZF. BMC Dev Biol (2010) 0.82
N-ethyl-N-nitrosourea (ENU) mutagenesis and male fertility research. Hum Reprod Update (2006) 0.82
A missense mutation in LRR8 of RXFP2 is associated with cryptorchidism. Mamm Genome (2010) 0.80
PRDM16 controls a brown fat/skeletal muscle switch. Nature (2008) 13.08
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med (2014) 6.89
A gene expression map for the euchromatic genome of Drosophila melanogaster. Science (2004) 5.38
Exome sequencing and the genetic basis of complex traits. Nat Genet (2012) 4.11
Agouti C57BL/6N embryonic stem cells for mouse genetic resources. Nat Methods (2009) 3.68
Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet (2012) 3.50
Analysis of copy number variations at 15 schizophrenia-associated loci. Br J Psychiatry (2013) 3.01
Gaza's health care system crippled before--and after. CMAJ (2009) 2.91
Extremely low-coverage sequencing and imputation increases power for genome-wide association studies. Nat Genet (2012) 2.50
Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet (2002) 2.30
Soliciting strategies for developing cell-based reference materials to advance mesenchymal stromal cell research and clinical translation. Stem Cells Dev (2014) 2.27
Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse. Genome Res (2006) 2.26
An estrogen receptor (ER)alpha deoxyribonucleic acid-binding domain knock-in mutation provides evidence for nonclassical ER pathway signaling in vivo. Mol Endocrinol (2002) 2.08
Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney disease. J Clin Invest (2002) 2.07
A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish. Development (2002) 2.00
Spherical nucleic acid nanoparticle conjugates as an RNAi-based therapy for glioblastoma. Sci Transl Med (2013) 1.99
NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies. Mol Cell (2013) 1.97
Impaired organic anion transport in kidney and choroid plexus of organic anion transporter 3 (Oat3 (Slc22a8)) knockout mice. J Biol Chem (2002) 1.87
zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics (2012) 1.87
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
Genetic rescue of nonclassical ERα signaling normalizes energy balance in obese Erα-null mutant mice. J Clin Invest (2011) 1.81
Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human disease. J Am Soc Nephrol (2006) 1.78
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab (2007) 1.71
Nek8 regulates the expression and localization of polycystin-1 and polycystin-2. J Am Soc Nephrol (2008) 1.70
Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet (2005) 1.69
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab (2002) 1.68
Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice. J Clin Invest (2009) 1.67
Estrogen-induced proliferation of uterine epithelial cells is independent of estrogen receptor alpha binding to classical estrogen response elements. J Biol Chem (2006) 1.60
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab (2002) 1.57
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. J Clin Endocrinol Metab (2006) 1.53
Mutation mapping and identification by whole-genome sequencing. Genome Res (2012) 1.51
Induction of cyclin D2 in rat granulosa cells requires FSH-dependent relief from FOXO1 repression coupled with positive signals from Smad. J Biol Chem (2004) 1.48
Prdm16 is required for normal palatogenesis in mice. Hum Mol Genet (2009) 1.46
Cordon-bleu is a conserved gene involved in neural tube formation. Dev Biol (2003) 1.44
Regulation of Kiss1 and dynorphin gene expression in the murine brain by classical and nonclassical estrogen receptor pathways. J Neurosci (2009) 1.41
Docosahexaenoic acid induces an anti-inflammatory profile in lipopolysaccharide-stimulated human THP-1 macrophages more effectively than eicosapentaenoic acid. J Nutr Biochem (2006) 1.38
Sox3 is required for gonadal function, but not sex determination, in males and females. Mol Cell Biol (2003) 1.37
Sox3 expression in undifferentiated spermatogonia is required for the progression of spermatogenesis. Dev Biol (2005) 1.34
Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. Cytoskeleton (Hoboken) (2010) 1.32
Dax1 is required for testis determination. Nat Genet (2003) 1.30
Mesenchymal stem cells: lineage, plasticity, and skeletal therapeutic potential. Stem Cell Rev (2005) 1.29
New insights into the classical and non-classical actions of estrogen: evidence from estrogen receptor knock-out and knock-in mice. Mol Cell Endocrinol (2008) 1.28
TAT-mediated PRDX6 protein transduction protects against eye lens epithelial cell death and delays lens opacity. Am J Physiol Cell Physiol (2008) 1.27
Lipoxygenases mediate the effect of essential fatty acid in skin barrier formation: a proposed role in releasing omega-hydroxyceramide for construction of the corneocyte lipid envelope. J Biol Chem (2011) 1.23
Skeletal effects of estrogen are mediated by opposing actions of classical and nonclassical estrogen receptor pathways. J Bone Miner Res (2005) 1.23
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab (2003) 1.23
Classical estrogen receptor alpha signaling mediates negative and positive feedback on gonadotropin-releasing hormone neuron firing. Endocrinology (2008) 1.22
TR surfaces and conformations required to bind nuclear receptor corepressor. Mol Endocrinol (2002) 1.20
Minimizing unnecessary surgery for thyroid nodules. N Engl J Med (2012) 1.19
Selective disruption of ER{alpha} DNA-binding activity alters uterine responsiveness to estradiol. Mol Endocrinol (2009) 1.17
Genetic causes of human reproductive disease. J Clin Endocrinol Metab (2002) 1.16
Confirmation and high resolution mapping of an atherosclerosis susceptibility gene in mice on Chromosome 1. Mamm Genome (2002) 1.16
The zebrafish foxj1a transcription factor regulates cilia function in response to injury and epithelial stretch. Proc Natl Acad Sci U S A (2010) 1.15
Interacting genetic loci cause airway hyperresponsiveness. Physiol Genomics (2005) 1.15
CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Hum Mol Genet (2013) 1.14
Minireview: transcriptional regulation of gonadal development and differentiation. Endocrinology (2004) 1.13
Gene structure and functional analysis of the mouse nidogen-2 gene: nidogen-2 is not essential for basement membrane formation in mice. Mol Cell Biol (2002) 1.12
Resveratrol acts as an estrogen receptor (ER) agonist in breast cancer cells stably transfected with ER alpha. Int J Cancer (2003) 1.11
Gata4 is necessary for normal pulmonary lobar development. Am J Respir Cell Mol Biol (2006) 1.09
Nuclear receptors Sf1 and Dax1 function cooperatively to mediate somatic cell differentiation during testis development. Development (2005) 1.09
Distinct roles for steroidogenic factor 1 and desert hedgehog pathways in fetal and adult Leydig cell development. Endocrinology (2007) 1.08
Peroxisome proliferator-activated receptor gamma agonists promote TRAIL-induced apoptosis by reducing survivin levels via cyclin D3 repression and cell cycle arrest. J Biol Chem (2004) 1.07
GnRH regulates early growth response protein 1 transcription through multiple promoter elements. Mol Endocrinol (2002) 1.06
A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development (2003) 1.06
Implication of a rare deletion at distal 16p11.2 in schizophrenia. JAMA Psychiatry (2013) 1.05
Dax1 regulates testis cord organization during gonadal differentiation. Development (2003) 1.03
Bile duct proliferation in Jag1/fringe heterozygous mice identifies candidate modifiers of the Alagille syndrome hepatic phenotype. Hepatology (2008) 1.02
Using ENU mutagenesis for phenotype-driven analysis of the mouse. Methods Enzymol (2010) 1.01
Behavior of adult human mesenchymal stem cells entrapped in alginate-GRGDY beads. Tissue Eng (2006) 1.00
Phenotypic features associated with mutations in steroidogenic acute regulatory protein. J Clin Endocrinol Metab (2005) 1.00
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressin-producing neurons. J Clin Invest (2003) 1.00
Estrogen response element-independent estrogen receptor (ER)-alpha signaling does not rescue sexual behavior but restores normal testosterone secretion in male ERalpha knockout mice. Endocrinology (2007) 0.99
Enhanced function annotations for Drosophila serine proteases: a case study for systematic annotation of multi-member gene families. Gene (2007) 0.99
ERE-independent ERalpha target genes differentially expressed in human breast tumors. Mol Cell Endocrinol (2005) 0.98
Loss of the ciliary kinase Nek8 causes left-right asymmetry defects. J Am Soc Nephrol (2013) 0.97
Interaction between Dax-1 and steroidogenic factor-1 in vivo: increased adrenal responsiveness to ACTH in the absence of Dax-1. Endocrinology (2002) 0.97
A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype. Neural Dev (2011) 0.97
Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. J Clin Endocrinol Metab (2014) 0.97
Prevalence of USA300 strain type of methicillin-resistant Staphylococcus aureus among patients with nasal colonization identified with active surveillance. Infect Control Hosp Epidemiol (2010) 0.97
Defects in ciliary localization of Nek8 is associated with cystogenesis. Pediatr Nephrol (2008) 0.96
A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice. Hum Mol Genet (2005) 0.96
High resolution mapping and positional cloning of ENU-induced mutations in the Rw region of mouse chromosome 5. BMC Genet (2010) 0.95
Estrogenic effects of resveratrol in breast cancer cells expressing mutant and wild-type estrogen receptors: role of AF-1 and AF-2. J Steroid Biochem Mol Biol (2004) 0.94
Amyloid accelerates tau propagation and toxicity in a model of early Alzheimer's disease. Acta Neuropathol Commun (2015) 0.94
Genome-wide identification of mouse congenital heart disease loci. Hum Mol Genet (2010) 0.94
Effects of loss of classical estrogen response element signaling on bone in male mice. Endocrinology (2007) 0.93
SNP2RFLP: a computational tool to facilitate genetic mapping using benchtop analysis of SNPs. Mamm Genome (2008) 0.93
Of mice and men: The tale of steroidogenic factor-1. J Clin Endocrinol Metab (2004) 0.93
Cell-specific Cre-mediated activation of the diphtheria toxin gene in pituitary tumor cells: potential for cytotoxic gene therapy. Hum Gene Ther (2002) 0.92
Magnetic resonance imaging assessment of a murine model of recessive polycystic kidney disease. Comp Med (2002) 0.91
Estrogen actions in the male reproductive system involve estrogen response element-independent pathways. Endocrinology (2008) 0.90
Gene transfer of pigment epithelium-derived factor suppresses tumor growth and angiogenesis in a hepatoblastoma xenograft model. Pediatr Res (2006) 0.90