Published in Eur J Med Genet on September 16, 2010
VACTERL/VATER Association. Orphanet J Rare Dis (2011) 1.87
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VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations. Mol Syndromol (2013) 0.94
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VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis. Clin Dysmorphol (2012) 0.86
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. Eur J Hum Genet (2013) 0.84
Anorectal malformation: the etiological factors. Pediatr Surg Int (2015) 0.83
Copy-number variation associated with congenital anomalies of the kidney and urinary tract. Pediatr Nephrol (2014) 0.81
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association. PLoS One (2014) 0.80
Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association. Hum Mutat (2015) 0.79
The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. J Med Genet (2016) 0.77
PCSK5 mutation in a patient with the VACTERL association. BMC Res Notes (2015) 0.77
Altered Tbx1 gene expression is associated with abnormal oesophageal development in the adriamycin mouse model of oesophageal atresia/tracheo-oesophageal fistula. Pediatr Surg Int (2014) 0.76
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans. Curr Genomics (2015) 0.75
Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype. Pediatr Nephrol (2016) 0.75
22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring. Clin Case Rep (2017) 0.75
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet (2008) 10.52
Common variants conferring risk of schizophrenia. Nature (2009) 10.37
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet (2009) 6.13
A genome-wide association study of alcohol dependence. Proc Natl Acad Sci U S A (2010) 4.94
A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer. Nat Med (2012) 4.90
Disruption of the neurexin 1 gene is associated with schizophrenia. Hum Mol Genet (2008) 4.78
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet (2009) 4.38
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. Nat Genet (2014) 4.13
Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet (2010) 3.97
Multiple independent loci at chromosome 15q25.1 affect smoking quantity: a meta-analysis and comparison with lung cancer and COPD. PLoS Genet (2010) 3.91
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet (2009) 3.58
Direct conversion of fibroblasts into stably expandable neural stem cells. Cell Stem Cell (2012) 3.52
Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups. PLoS Genet (2010) 3.21
High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron (2011) 3.08
Genome-wide association study of alcohol dependence. Arch Gen Psychiatry (2009) 3.08
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Genetic associations with valvular calcification and aortic stenosis. N Engl J Med (2013) 3.02
G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth. Nat Genet (2008) 3.00
Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nat Genet (2009) 2.93
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
Single nucleotide variation analysis in 65 candidate genes for CNS disorders in a representative sample of the European population. Genome Res (2003) 2.75
Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am J Hum Genet (2011) 2.71
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One (2010) 2.57
Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3p21.1. Nat Genet (2010) 2.46
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology (2009) 2.42
Planning the human variome project: the Spain report. Hum Mutat (2009) 2.22
Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet (2011) 2.21
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nat Genet (2012) 2.15
Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biol Psychiatry (2010) 2.07
The neuronal transporter gene SLC6A15 confers risk to major depression. Neuron (2011) 2.02
A 14-year-old boy with chronic cyanosis, mild anemia, and limited physical resistance to stress. Clin Chem (2012) 2.02
INTERSNP: genome-wide interaction analysis guided by a priori information. Bioinformatics (2009) 2.02
Brain function in carriers of a genome-wide supported bipolar disorder variant. Arch Gen Psychiatry (2010) 1.95
Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry (2011) 1.94
Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia. Am J Hum Genet (2005) 1.94
Common variants on 8p12 and 1q24.2 confer risk of schizophrenia. Nat Genet (2011) 1.88
Association of a polymorphism of the ACVRL1 gene with sporadic arteriovenous malformations of the central nervous system. J Neurosurg (2006) 1.83
Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies. Gastroenterology (2013) 1.83
Analysis of Drosophila segmentation network identifies a JNK pathway factor overexpressed in kidney cancer. Science (2009) 1.83
Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nat Genet (2013) 1.83
Susceptibility variants for male-pattern baldness on chromosome 20p11. Nat Genet (2008) 1.80
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet (2006) 1.78
Outcome of assisted reproduction. Lancet (2007) 1.72
Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet (2011) 1.70
Evidence for a relationship between genetic variants at the brain-derived neurotrophic factor (BDNF) locus and major depression. Biol Psychiatry (2005) 1.61
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. Eur J Hum Genet (2008) 1.58
Assisted reproductive techniques and risk of exstrophy-epispadias complex: a German case-control study. J Urol (2012) 1.55
Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. J Natl Cancer Inst (2010) 1.48
Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet (2006) 1.45
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. Blood (2013) 1.45
No association between the serine racemase gene (SRR) and schizophrenia in a German case-control sample. Psychiatr Genet (2007) 1.42
Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review. Am J Med Genet A (2006) 1.40
Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology (2008) 1.40
Genome-wide association-, replication-, and neuroimaging study implicates HOMER1 in the etiology of major depression. Biol Psychiatry (2010) 1.39
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. Addict Biol (2011) 1.37
The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia. Biol Psychiatry (2011) 1.36
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. J Pathol (2005) 1.35
Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia. Am J Hum Genet (2005) 1.35
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet (2013) 1.34
A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Hum Mol Genet (2007) 1.32
Breakthroughs in the genetics of orofacial clefting. Trends Mol Med (2011) 1.32
The power of sample size and homogenous sampling: association between the 5-HTTLPR serotonin transporter polymorphism and major depressive disorder. Biol Psychiatry (2005) 1.31
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet (2009) 1.31
Achalasia: will genetic studies provide insights? Hum Genet (2010) 1.30
Pregnancy course and outcome after intracytoplasmic sperm injection: a controlled, prospective cohort study. Fertil Steril (2004) 1.30
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
Leiden Open Variation Database of the MUTYH gene. Hum Mutat (2010) 1.28
The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease. Am J Hum Genet (2003) 1.26
At-risk variant in TCF7L2 for type II diabetes increases risk of schizophrenia. Biol Psychiatry (2011) 1.26
Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J Clin Invest (2014) 1.25
A plan to reduce emergency room 'boarding' of psychiatric patients. Health Aff (Millwood) (2010) 1.25
Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder. Nat Commun (2013) 1.25
Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol (2008) 1.24
The exstrophy-epispadias complex. Orphanet J Rare Dis (2009) 1.24
Association between schizophrenia and common variation in neurocan (NCAN), a genetic risk factor for bipolar disorder. Schizophr Res (2012) 1.24
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology (2009) 1.21
Genotype-phenotype studies in bipolar disorder showing association between the DAOA/G30 locus and persecutory delusions: a first step toward a molecular genetic classification of psychiatric phenotypes. Am J Psychiatry (2005) 1.21
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet (2011) 1.21
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet (2009) 1.20
Genetic determination of human facial morphology: links between cleft-lips and normal variation. Eur J Hum Genet (2011) 1.17
Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. Am J Psychiatry (2010) 1.16
Support of the histaminergic hypothesis in Tourette syndrome: association of the histamine decarboxylase gene in a large sample of families. J Med Genet (2013) 1.16
Common genetic variants and gene-expression changes associated with bipolar disorder are over-represented in brain signaling pathway genes. Biol Psychiatry (2012) 1.15
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet (2012) 1.14