Published in J Invest Dermatol on March 01, 2002
Factors affecting statistical power in the detection of genetic association. J Clin Invest (2005) 2.02
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet (2006) 1.44
Inherited epidermolysis bullosa. Orphanet J Rare Dis (2010) 1.16
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
Complement factor H polymorphism in age-related macular degeneration. Science (2005) 31.10
Genome-wide association study identifies novel breast cancer susceptibility loci. Nature (2007) 29.23
Strong association of de novo copy number mutations with autism. Science (2007) 27.84
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: a meta-analysis. JAMA (2009) 12.35
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet (2013) 8.24
A common coding variant in CASP8 is associated with breast cancer risk. Nat Genet (2007) 7.35
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet (2009) 7.30
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. PLoS Genet (2008) 6.22
Progress in tuberculosis control and the evolving public-health system in China. Lancet (2007) 4.86
Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies. J Natl Cancer Inst (2010) 4.54
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer. Nat Genet (2013) 4.35
Mathematical multi-locus approaches to localizing complex human trait genes. Nat Rev Genet (2003) 4.18
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nat Genet (2005) 4.13
Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nat Genet (2013) 3.81
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet (2002) 3.73
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet (2003) 3.52
Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci. Nat Genet (2011) 3.46
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet (2011) 3.37
Distribution and characterization of regulatory elements in the human genome. Genome Res (2002) 3.34
Niemann-Pick C1 Like 1 (NPC1L1) is the intestinal phytosterol and cholesterol transporter and a key modulator of whole-body cholesterol homeostasis. J Biol Chem (2004) 3.27
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet (2005) 3.24
Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet (2012) 3.20
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet (2005) 3.19
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Age-related macular degeneration--a genome scan in extended families. Am J Hum Genet (2003) 2.99
CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration. Ophthalmology (2008) 2.90
Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. J Natl Cancer Inst (2009) 2.88
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature (2010) 2.85
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet (2006) 2.81
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
Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Hum Mol Genet (2011) 2.72
CpG island methylator phenotype associates with low-degree chromosomal abnormalities in colorectal cancer. Clin Cancer Res (2008) 2.65
A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci. Nat Genet (2010) 2.62
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry (2008) 2.60
A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet (2003) 2.51
A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Hum Mol Genet (2012) 2.45
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet (2012) 2.43
WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nat Genet (2010) 2.40
Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.32. Nat Genet (2010) 2.37
Genetic structure of the Han Chinese population revealed by genome-wide SNP variation. Am J Hum Genet (2009) 2.33
Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet (2001) 2.29
Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia. Nat Genet (2012) 2.26
Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet (2004) 2.24
Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. Am J Hum Genet (2013) 2.24
Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies. BMC Genet (2005) 2.14
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
The first international consensus on mucous membrane pemphigoid: definition, diagnostic criteria, pathogenic factors, medical treatment, and prognostic indicators. Arch Dermatol (2002) 2.10
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell (2003) 2.06
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. Nat Genet (2011) 2.05
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet (2012) 2.05
Genomic analysis defines a cancer-specific gene expression signature for human squamous cell carcinoma and distinguishes malignant hyperproliferation from benign hyperplasia. J Invest Dermatol (2006) 2.01
What SNP genotyping errors are most costly for genetic association studies? Genet Epidemiol (2004) 2.00
Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet (2008) 2.00
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. J Invest Dermatol (2008) 1.96
The tumor necrosis factor-α -238G/A and IL-6 -572G/C gene polymorphisms and the risk of idiopathic dilated cardiomyopathy: a meta-analysis of 25 studies including 9493 cases and 13,971 controls. Clin Chem Lab Med (2015) 1.96
Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy. Nat Genet (2011) 1.95
Molecular triangulation: bridging linkage and molecular-network information for identifying candidate genes in Alzheimer's disease. Proc Natl Acad Sci U S A (2004) 1.94
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. Nat Genet (2013) 1.90
GWAS identifies novel susceptibility loci on 6p21.32 and 21q21.3 for hepatocellular carcinoma in chronic hepatitis B virus carriers. PLoS Genet (2012) 1.86
Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nat Genet (2011) 1.84
Association of genetic loci: replication or not, that is the question. Neurology (2004) 1.84
Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes. Hum Mol Genet (2011) 1.83
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. PLoS Genet (2011) 1.81
Inducible enhancement of memory storage and synaptic plasticity in transgenic mice expressing an inhibitor of ATF4 (CREB-2) and C/EBP proteins. Neuron (2003) 1.80
Contribution of root respiration to soil respiration in a C3/C4 mixed grassland. J Biosci (2005) 1.80
Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis (2011) 1.78
Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata. J Invest Dermatol (2003) 1.72
Genetic-linkage mapping of complex hereditary disorders to a whole-genome molecular-interaction network. Genome Res (2008) 1.71
Catechol-O-methyltransferase (COMT) genotypes and working memory: associations with differing cognitive operations. Biol Psychiatry (2005) 1.71
Sum statistics for the joint detection of multiple disease loci in case-control association studies with SNP markers. Genet Epidemiol (2003) 1.69
Nucleotide frequency variation across human genes. Genome Res (2003) 1.68
Increased attributable risk related to a functional mu-opioid receptor gene polymorphism in association with alcohol dependence in central Sweden. Neuropsychopharmacology (2005) 1.66
Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Res (2011) 1.65
Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells. Blood (2008) 1.62
Association of ESR1 gene tagging SNPs with breast cancer risk. Hum Mol Genet (2009) 1.58
GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma. PLoS Genet (2011) 1.58
Estimating rates of alternative splicing in mammals and invertebrates. Nat Genet (2004) 1.57
Clinical and pathologic correlations in genetically distinct forms of atrichia. Arch Dermatol (2003) 1.57