Published in Am J Hum Genet on May 21, 2009
Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol (2011) 1.97
Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. Proc Natl Acad Sci U S A (2010) 1.11
17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations. Eur J Hum Genet (2011) 0.98
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders. PLoS One (2014) 0.95
Trps1 and its target gene Sox9 regulate epithelial proliferation in the developing hair follicle and are associated with hypertrichosis. PLoS Genet (2012) 0.92
X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. Am J Hum Genet (2011) 0.92
Position effect on FGF13 associated with X-linked congenital generalized hypertrichosis. Proc Natl Acad Sci U S A (2013) 0.88
Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association. Int J Trichology (2015) 0.83
Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants. Asian J Androl (2010) 0.82
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genet (2014) 0.81
Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome. Dermatology (2012) 0.79
Observations on Copy Number Variations in a Kidney-yang Deficiency Syndrome Family. Evid Based Complement Alternat Med (2011) 0.75
Refinement of the GINGF3 locus for hereditary gingival fibromatosis. Eur J Pediatr (2009) 0.75
Porcine SOX9 Gene Expression Is Influenced by an 18bp Indel in the 5'-Untranslated Region. PLoS One (2015) 0.75
Haplo2Ped: a tool using haplotypes as markers for linkage analysis. BMC Bioinformatics (2011) 0.75
Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet (1998) 7.93
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Genomic rearrangements and sporadic disease. Nat Genet (2007) 5.28
Hair follicle stem cells are specified and function in early skin morphogenesis. Cell Stem Cell (2008) 5.02
Sox9 is essential for outer root sheath differentiation and the formation of the hair stem cell compartment. Curr Biol (2005) 4.04
The cardiofaciocutaneous syndrome. J Med Genet (2006) 2.32
A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am J Hum Genet (2002) 2.04
Differential involvement of p38 mitogen-activated protein kinase kinases MKK3 and MKK6 in T-cell apoptosis. EMBO Rep (2002) 1.52
Emerging themes and new challenges in defining the role of structural variation in human disease. Hum Mutat (2009) 1.47
ABC A-subfamily transporters: structure, function and disease. Biochim Biophys Acta (2006) 1.33
Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. J Med Genet (2008) 1.33
Constitutive activation of MKK6 in chondrocytes of transgenic mice inhibits proliferation and delays endochondral bone formation. Proc Natl Acad Sci U S A (2005) 1.26
Costello syndrome: clinical diagnosis in the first year of life. Eur J Pediatr (2007) 1.21
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice. Hum Mol Genet (2008) 1.14
Clinical and molecular aspects of RAS related disorders. J Med Genet (2008) 1.12
Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis. J Biol Chem (2007) 1.05
Julia Pastrana, the nondescript: an example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia. Am J Med Genet (1993) 1.03
A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'. Eur J Med Genet (2008) 1.02
Inherited hypertrichoses. Clin Genet (2002) 0.98
Atavisms and atavistic mutations. Nat Genet (1995) 0.98
Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1. Nat Genet (1995) 0.91
Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Am J Med Genet A (2007) 0.90
An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis. J Med Genet (1996) 0.89
Partial trisomy 17q22-qter and partial monosomy Xq27-qter in a girl with a de novo unbalanced translocation due to a postzygotic error: case report and review of the literature on partial trisomy 17qter. Am J Med Genet (1997) 0.86
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. Am J Med Genet A (2007) 0.85
Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity. Am J Med Genet A (2003) 0.83
A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan. BMC Genet (2008) 0.83
Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci. Am J Med Genet A (2003) 0.80
Involvement of MKK6 in TCRalphabeta(int)CD69lo: a target population for apoptotic cell death in thymocytes. FASEB J (2003) 0.77
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
Shotgun bisulphite sequencing of the Arabidopsis genome reveals DNA methylation patterning. Nature (2008) 26.78
Towards a proteome-scale map of the human protein-protein interaction network. Nature (2005) 24.76
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
International network of cancer genome projects. Nature (2010) 20.35
Toxic potential of materials at the nanolevel. Science (2006) 19.24
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. Nature (2010) 18.69
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
The sequence and de novo assembly of the giant panda genome. Nature (2009) 15.76
A map of the interactome network of the metazoan C. elegans. Science (2004) 15.60
Prepublication data sharing. Nature (2009) 12.24
Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet (2008) 10.52
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet (2006) 9.99
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell (2006) 8.61
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
TRIBUTE: a phase III trial of erlotinib hydrochloride (OSI-774) combined with carboplatin and paclitaxel chemotherapy in advanced non-small-cell lung cancer. J Clin Oncol (2005) 7.55
SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res (2005) 7.34
A draft sequence for the genome of the domesticated silkworm (Bombyx mori). Science (2004) 6.62
Stereotaxic white matter atlas based on diffusion tensor imaging in an ICBM template. Neuroimage (2008) 6.58
The oyster genome reveals stress adaptation and complexity of shell formation. Nature (2012) 5.30
A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms. Nature (2004) 5.24
Tract probability maps in stereotaxic spaces: analyses of white matter anatomy and tract-specific quantification. Neuroimage (2007) 5.23
miR-19 is a key oncogenic component of mir-17-92. Genes Dev (2009) 4.95
Genome sequence of Shigella flexneri 2a: insights into pathogenicity through comparison with genomes of Escherichia coli K12 and O157. Nucleic Acids Res (2002) 4.92
Resequencing 50 accessions of cultivated and wild rice yields markers for identifying agronomically important genes. Nat Biotechnol (2011) 4.84
Innovative approaches for designing and analyzing adaptive dose-ranging trials. J Biopharm Stat (2007) 4.78
VFDB: a reference database for bacterial virulence factors. Nucleic Acids Res (2005) 4.77
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Genomics (2007) 4.62
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet (2006) 4.55
RePS: a sequence assembler that masks exact repeats identified from the shotgun data. Genome Res (2002) 4.35
Distinct DNA methylomes of newborns and centenarians. Proc Natl Acad Sci U S A (2012) 4.26
The DNA methylome of human peripheral blood mononuclear cells. PLoS Biol (2010) 4.25
Acute-on-chronic liver failure: consensus recommendations of the Asian Pacific Association for the study of the liver (APASL). Hepatol Int (2008) 4.16
KaKs_Calculator: calculating Ka and Ks through model selection and model averaging. Genomics Proteomics Bioinformatics (2006) 4.15
The pulvinar regulates information transmission between cortical areas based on attention demands. Science (2012) 4.14
Akt1/protein kinase Balpha is critical for ischemic and VEGF-mediated angiogenesis. J Clin Invest (2005) 3.95
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet (2007) 3.94
Oncogenic cooperation and coamplification of developmental transcription factor genes in lung cancer. Proc Natl Acad Sci U S A (2007) 3.84
Rates of adult schizophrenia following prenatal exposure to the Chinese famine of 1959-1961. JAMA (2005) 3.83
Atlas-based whole brain white matter analysis using large deformation diffeomorphic metric mapping: application to normal elderly and Alzheimer's disease participants. Neuroimage (2009) 3.74
Sclerostin mediates bone response to mechanical unloading through antagonizing Wnt/beta-catenin signaling. J Bone Miner Res (2009) 3.69
Predictive models of molecular machines involved in Caenorhabditis elegans early embryogenesis. Nature (2005) 3.62
Hdac2 regulates the cardiac hypertrophic response by modulating Gsk3 beta activity. Nat Med (2007) 3.61
Genome dynamics and diversity of Shigella species, the etiologic agents of bacillary dysentery. Nucleic Acids Res (2005) 3.56
Epstein-Barr virus and virus human protein interaction maps. Proc Natl Acad Sci U S A (2007) 3.50
Tissue-specific contributions of pneumococcal virulence factors to pathogenesis. J Infect Dis (2004) 3.43
Gradient-index meta-surfaces as a bridge linking propagating waves and surface waves. Nat Mater (2012) 3.42
Genomic analyses identify distinct patterns of selection in domesticated pigs and Tibetan wild boars. Nat Genet (2013) 3.41
Distinct transcription profiles of primary and secondary glioblastoma subgroups. Cancer Res (2006) 3.41
Filaggrin mutations associated with skin and allergic diseases. N Engl J Med (2011) 3.40
Human ORFeome version 1.1: a platform for reverse proteomics. Genome Res (2004) 3.36
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet (2012) 3.34
ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov (2011) 3.27
Silencing by small RNAs is linked to endosomal trafficking. Nat Cell Biol (2009) 3.25
The deubiquitinase USP9X suppresses pancreatic ductal adenocarcinoma. Nature (2012) 3.23
Magnetic field and tissue dependencies of human brain longitudinal 1H2O relaxation in vivo. Magn Reson Med (2007) 3.23
Shigella sonnei genome sequencing and phylogenetic analysis indicate recent global dissemination from Europe. Nat Genet (2012) 3.22
Large-scale morphological survey of mouse retinal ganglion cells. J Comp Neurol (2002) 3.19
mir-17-92, a cluster of miRNAs in the midst of the cancer network. Int J Biochem Cell Biol (2010) 3.15
Mammalian target of rapamycin up-regulation of pyruvate kinase isoenzyme type M2 is critical for aerobic glycolysis and tumor growth. Proc Natl Acad Sci U S A (2011) 3.14
VFDB 2008 release: an enhanced web-based resource for comparative pathogenomics. Nucleic Acids Res (2007) 3.07
MiR-26a inhibits cell growth and tumorigenesis of nasopharyngeal carcinoma through repression of EZH2. Cancer Res (2011) 3.03
Dicer-dependent endothelial microRNAs are necessary for postnatal angiogenesis. Proc Natl Acad Sci U S A (2008) 3.03
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Nat Genet (2010) 3.02
Mouse transcriptome: neutral evolution of 'non-coding' complementary DNAs. Nature (2004) 3.00
A gain-of-function mutation in a plant disease resistance gene leads to constitutive activation of downstream signal transduction pathways in suppressor of npr1-1, constitutive 1. Plant Cell (2003) 3.00
U87MG decoded: the genomic sequence of a cytogenetically aberrant human cancer cell line. PLoS Genet (2010) 2.99
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96
Complete genome sequence of Yersinia pestis strain 91001, an isolate avirulent to humans. DNA Res (2004) 2.95
Ten-eleven translocation-2 (TET2) is a master regulator of smooth muscle cell plasticity. Circulation (2013) 2.95
The guardian's little helper: microRNAs in the p53 tumor suppressor network. Cancer Res (2007) 2.92
Increasing occurrence of antimicrobial-resistant hypervirulent (hypermucoviscous) Klebsiella pneumoniae isolates in China. Clin Infect Dis (2013) 2.91
A partition-ligation-combination-subdivision EM algorithm for haplotype inference with multiallelic markers: update of the SHEsis (http://analysis.bio-x.cn). Cell Res (2009) 2.86
Effects of 1-year treatment with cyclophosphamide on outcomes at 2 years in scleroderma lung disease. Am J Respir Crit Care Med (2007) 2.86
Human brain white matter atlas: identification and assignment of common anatomical structures in superficial white matter. Neuroimage (2008) 2.86
A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. Nat Genet (2011) 2.85
Intermediate filament proteins and their associated diseases. N Engl J Med (2004) 2.84
Genome sequence of foxtail millet (Setaria italica) provides insights into grass evolution and biofuel potential. Nat Biotechnol (2012) 2.82
Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population. Biol Psychiatry (2005) 2.79
miR-34 miRNAs provide a barrier for somatic cell reprogramming. Nat Cell Biol (2011) 2.79
Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol (2003) 2.79
Essential role of TRPC channels in the guidance of nerve growth cones by brain-derived neurotrophic factor. Nature (2005) 2.78
Distinctive microRNA profiles relating to patient survival in esophageal squamous cell carcinoma. Cancer Res (2008) 2.75
Presence of somatic mutations in most early-stage pancreatic intraepithelial neoplasia. Gastroenterology (2012) 2.74
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet (2003) 2.73
The miR-17~92 cluster collaborates with the Sonic Hedgehog pathway in medulloblastoma. Proc Natl Acad Sci U S A (2009) 2.72