Published in Hum Genet on August 21, 2002
CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. Am J Hum Genet (2007) 1.56
Congenital and idiopathic scoliosis: clinical and genetic aspects. Clin Med Res (2003) 1.31
Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood. Curr Genomics (2008) 1.20
Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population. Eur J Hum Genet (2008) 1.17
A novel locus for adolescent idiopathic scoliosis on chromosome 12p. J Orthop Res (2009) 1.13
The genetic epidemiology of idiopathic scoliosis. Eur Spine J (2012) 1.02
Recent advances in the aetiology of adolescent idiopathic scoliosis. Int Orthop (2007) 1.02
Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18 q. Spine (Phila Pa 1976) (2009) 1.01
Association of rs11190870 near LBX1 with adolescent idiopathic scoliosis susceptibility in a Han Chinese population. Eur Spine J (2012) 1.01
SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis. Hum Genet (2004) 0.96
Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article. Scoliosis (2010) 0.92
Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3. PLoS One (2013) 0.90
Association between common variants near LBX1 and adolescent idiopathic scoliosis replicated in the Chinese Han population. PLoS One (2013) 0.89
A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. Nat Commun (2015) 0.88
New disease gene location and high genetic heterogeneity in idiopathic scoliosis. Eur J Hum Genet (2011) 0.88
Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis. Scoliosis (2006) 0.87
Genetic aspects of congenital and idiopathic scoliosis. Scientifica (Cairo) (2012) 0.84
Males with familial idiopathic scoliosis: a distinct phenotypic subgroup. Spine (Phila Pa 1976) (2010) 0.83
Epidemiological survey of idiopathic scoliosis and sequence alignment analysis of multiple candidate genes. Int Orthop (2011) 0.82
What is the best way to determine the cause of adolescent idiopathic scoliosis? Ann Transl Med (2015) 0.80
Polymorphism of the ace gene and the α-actinin-3 gene in adolescent idiopathic scoliosis. Acta Ortop Bras (2013) 0.80
Adolescent idiopathic scoliosis: current concepts on neurological and muscular etiologies. Scoliosis Spinal Disord (2016) 0.79
Identification of susceptibility loci for scoliosis in FIS families with triple curves. Am J Med Genet A (2010) 0.79
A single-nucleotide polymorphism rs708567 in the IL-17RC gene is associated with a susceptibility to and the curve severity of adolescent idiopathic scoliosis in a Chinese Han population: a case-control study. BMC Musculoskelet Disord (2012) 0.79
Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2. Hum Hered (2012) 0.79
Animal models for scoliosis research: state of the art, current concepts and future perspective applications. Eur Spine J (2012) 0.79
Familial adolescent-onset scoliosis and later segmental dystonia in an Irish family. J Neurol (2004) 0.79
Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis. G3 (Bethesda) (2014) 0.78
Genetic markers for idiopathic scoliosis on chromosome 19p 13.3 among Saudi Arabian girls: A pilot study. Indian J Hum Genet (2011) 0.78
Evaluation of IRX Genes and Conserved Noncoding Elements in a Region on 5p13.3 Linked to Families with Familial Idiopathic Scoliosis and Kyphosis. G3 (Bethesda) (2016) 0.78
Lack of association between suppressor of cytokine signaling-3 gene polymorphism and susceptibility and curve severity of adolescent idiopathic scoliosis. Eur Spine J (2014) 0.77
Association of COL2A1 gene polymorphism with degenerative lumbar scoliosis. Clin Orthop Surg (2014) 0.76
AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis. J Med Genet (2016) 0.76
SNPping away at the genetic basis of adolescent idiopathic scoliosis. Ann Transl Med (2015) 0.75
Microarray expression profiling identifies genes with altered expression in Adolescent Idiopathic Scoliosis. Eur Spine J (2013) 0.75
Genetic Markers for Adolescent Idiopathic Scoliosis on Chromosome 19p13.3 among Saudi Arabian Girls. Asian Spine J (2017) 0.75
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Genomewide association analysis of coronary artery disease. N Engl J Med (2007) 24.38
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet (2008) 16.92
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science (2004) 15.91
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet (2010) 8.89
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nat Genet (2010) 6.49
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation (2008) 5.20
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet (2009) 4.97
Genomic inflation factors under polygenic inheritance. Eur J Hum Genet (2011) 4.89
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet (2006) 4.68
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Genome-wide association study identifies five loci associated with lung function. Nat Genet (2009) 4.10
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. Diabetes (2010) 4.07
Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population. PLoS Genet (2012) 4.05
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children. PLoS Med (2011) 3.94
Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet (2013) 3.87
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet (2005) 3.76
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA (2007) 3.62
Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet (2012) 3.48
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet (2010) 3.37
Mapping of a major locus that determines telomere length in humans. Am J Hum Genet (2004) 3.33
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet (2013) 3.25
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
A genomewide linkage study of 1,933 families affected by premature coronary artery disease: The British Heart Foundation (BHF) Family Heart Study. Am J Hum Genet (2005) 3.20
New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat Genet (2011) 3.03
Common variants near TERC are associated with mean telomere length. Nat Genet (2010) 2.98
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet (2002) 2.90
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease. Hepatology (2015) 2.81
FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet (2011) 2.73
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet (2009) 2.57
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet (2010) 2.56
Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology. Proc Natl Acad Sci U S A (2010) 2.47
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet (2002) 2.46
Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study. PLoS One (2008) 2.37
Genetic susceptibility to nonsteroidal anti-inflammatory drug-related gastroduodenal bleeding: role of cytochrome P450 2C9 polymorphisms. Gastroenterology (2007) 2.32
PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol (2004) 2.30
Lectin-like, oxidized low-density lipoprotein receptor-1 (LOX-1): a critical player in the development of atherosclerosis and related disorders. Cardiovasc Res (2005) 2.30
Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet (2007) 2.23
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. Am J Hum Genet (2011) 2.21
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet (2011) 2.14
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
MicroRNA 217 modulates endothelial cell senescence via silent information regulator 1. Circulation (2009) 2.05
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption. Proc Natl Acad Sci U S A (2011) 2.01
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
Can modern biology interpret the mystery of the birth of Christ? J Matern Fetal Neonatal Med (2014) 1.98
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet (2007) 1.86
Additive effects of genetic variation in dopamine regulating genes on working memory cortical activity in human brain. J Neurosci (2006) 1.85
Multidimensional Prognostic Index based on a comprehensive geriatric assessment predicts short-term mortality in older patients with heart failure. Circ Heart Fail (2009) 1.83
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Awake thoracoscopic biopsy of interstitial lung disease. Ann Thorac Surg (2012) 1.82
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet (2003) 1.81
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics (2008) 1.80
Negligible impact of rare autoimmune-locus coding-region variants on missing heritability. Nature (2013) 1.79
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. Am J Hum Genet (2006) 1.78
Meta-analysis of telomere length in 19,713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect. Eur J Hum Genet (2013) 1.72
Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus. Am J Hum Genet (2002) 1.72
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
The IL23R R381Q gene variant protects against immune-mediated diseases by impairing IL-23-induced Th17 effector response in humans. PLoS One (2011) 1.71
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
Unravelling the complexity of T cell abnormalities in common variable immunodeficiency. J Immunol (2007) 1.70
The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis. PLoS Med (2013) 1.70
Leopard syndrome. Orphanet J Rare Dis (2008) 1.69