Published in Lancet on October 25, 2003
Epithelial-mesenchymal transitions: the importance of changing cell state in development and disease. J Clin Invest (2009) 6.70
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet (2009) 3.86
Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A (2005) 3.13
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes. Nature (2008) 2.98
Medical sequencing of candidate genes for nonsyndromic cleft lip and palate. PLoS Genet (2005) 2.52
Model systems for the study of heart development and disease. Cardiac neural crest and conotruncal malformations. Semin Cell Dev Biol (2006) 2.03
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A (2006) 2.03
Tbx5 and Tbx20 act synergistically to control vertebrate heart morphogenesis. Development (2005) 2.02
Genetics of congenital heart disease: the glass half empty. Circ Res (2013) 1.90
Mesodermal expression of Tbx1 is necessary and sufficient for pharyngeal arch and cardiac outflow tract development. Development (2006) 1.82
Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet (2005) 1.71
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet (2008) 1.68
Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes. Dev Cell (2006) 1.55
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet (2007) 1.51
Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. Am J Hum Genet (2006) 1.50
Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects. Am J Med Genet A (2013) 1.48
GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc Natl Acad Sci U S A (2009) 1.47
22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development. Pediatr Cardiol (2010) 1.44
Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Dev Disabil Res Rev (2008) 1.44
Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner. PLoS One (2009) 1.41
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest (2009) 1.40
Identification of downstream genetic pathways of Tbx1 in the second heart field. Dev Biol (2008) 1.39
Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med (2017) 1.39
From microscopes to microarrays: dissecting recurrent chromosomal rearrangements. Nat Rev Genet (2007) 1.37
Development of the mammalian lymphatic vasculature. J Clin Invest (2014) 1.34
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. J Med Genet (2009) 1.32
Human gene copy number spectra analysis in congenital heart malformations. Physiol Genomics (2012) 1.30
The clinical spectrum of homozygous HOXA1 mutations. Am J Med Genet A (2008) 1.16
The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders. Int J Dev Neurosci (2010) 1.16
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. BMC Med Genet (2009) 1.15
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. Neurogenetics (2006) 1.14
Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients. Hum Mol Genet (2006) 1.13
Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome. Behav Genet (2011) 1.11
Fgf8 expression in the Tbx1 domain causes skeletal abnormalities and modifies the aortic arch but not the outflow tract phenotype of Tbx1 mutants. Dev Biol (2006) 1.10
Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci (2013) 1.10
Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm. Development (2009) 1.09
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia. PLoS One (2014) 1.08
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC Med Genet (2009) 1.07
Ash2l interacts with Tbx1 and is required during early embryogenesis. Exp Biol Med (Maywood) (2010) 1.06
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
Establishment of totipotency does not depend on Oct4A. Nat Cell Biol (2013) 1.05
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol (2010) 1.04
Stem cell models of cardiac development and disease. Annu Rev Cell Dev Biol (2010) 1.03
Enamel-free teeth: Tbx1 deletion affects amelogenesis in rodent incisors. Dev Biol (2009) 1.03
Genetic basis of congenital cardiovascular malformations. Eur J Med Genet (2014) 1.00
MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome. Dev Cell (2012) 1.00
Genetic modifiers of the physical malformations in velo-cardio-facial syndrome/DiGeorge syndrome. Dev Disabil Res Rev (2008) 1.00
22q11 Gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development. Hum Mol Genet (2012) 0.99
A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice. Proc Natl Acad Sci U S A (2005) 0.99
Molecular genetics of congenital atrial septal defects. Clin Res Cardiol (2009) 0.99
Understanding the role of Tbx1 as a candidate gene for 22q11.2 deletion syndrome. Curr Allergy Asthma Rep (2013) 0.98
Manteia, a predictive data mining system for vertebrate genes and its applications to human genetic diseases. Nucleic Acids Res (2013) 0.97
Gain of function of Tbx1 affects pharyngeal and heart development in the mouse. Genesis (2009) 0.97
Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. PLoS Genet (2009) 0.97
Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. Clin Immunol (2013) 0.96
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab (2014) 0.96
Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet (2010) 0.95
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome). Images Paediatr Cardiol (2005) 0.94
Tbx1 regulates progenitor cell proliferation in the dental epithelium by modulating Pitx2 activation of p21. Dev Biol (2010) 0.94
Tbx1 regulates oral epithelial adhesion and palatal development. Hum Mol Genet (2012) 0.93
MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review. Front Mol Neurosci (2013) 0.93
Cardiac outflow tract anomalies. Wiley Interdiscip Rev Dev Biol (2013) 0.92
Pharyngeal mesoderm regulatory network controls cardiac and head muscle morphogenesis. Proc Natl Acad Sci U S A (2012) 0.92
DiGeorge Syndrome: a not so rare disease. Clinics (Sao Paulo) (2010) 0.92
Tbx1 is regulated by forkhead proteins in the secondary heart field. Dev Dyn (2006) 0.92
Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome. Dev Biol (2010) 0.91
Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. Am J Hum Genet (2014) 0.90
Tbx1 regulates Vegfr3 and is required for lymphatic vessel development. J Cell Biol (2010) 0.90
Detecting 22q11.2 deletion in Chinese children with conotruncal heart defects and single nucleotide polymorphisms in the haploid TBX1 locus. BMC Med Genet (2011) 0.90
Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. Front Immunol (2013) 0.89
Transcription factor TBX1 overexpression induces downregulation of proteins involved in retinoic acid metabolism: a comparative proteomic analysis. J Proteome Res (2009) 0.89
Xenopus: An emerging model for studying congenital heart disease. Birth Defects Res A Clin Mol Teratol (2011) 0.89
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet (2015) 0.89
Genetic architecture of reciprocal CNVs. Curr Opin Genet Dev (2013) 0.88
Cleft lip and palate genetics and application in early embryological development. Indian J Plast Surg (2009) 0.88
22q11.2 deletion syndrome. Nat Rev Dis Prim (2015) 0.87
Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency. Hum Mutat (2013) 0.87
Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India. BMC Med Genet (2010) 0.87
Functional gene-expression analysis shows involvement of schizophrenia-relevant pathways in patients with 22q11 deletion syndrome. PLoS One (2012) 0.87
Molecular mechanisms in 22q11 deletion syndrome. Schizophr Bull (2011) 0.87
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36. PLoS One (2014) 0.85
Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome. Eur J Pediatr (2010) 0.85
How insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease. Mech Dev (2012) 0.85
Tbx1 is a negative modulator of Mef2c. Hum Mol Genet (2012) 0.84
Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism. Eur J Pediatr (2010) 0.84
Tbx1 is required for second heart field proliferation in zebrafish. Dev Dyn (2013) 0.84
Mouse models for investigating the developmental basis of human birth defects. Pediatr Res (2006) 0.84
Pulmonary atresia or persistent truncus arteriosus: is it important to make the distinction and how do we do it? Circ Res (2008) 0.84
p53 Suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome. Proc Natl Acad Sci U S A (2014) 0.84
Vangl2-regulated polarisation of second heart field-derived cells is required for outflow tract lengthening during cardiac development. PLoS Genet (2014) 0.84
TBX1 protein interactions and microRNA-96-5p regulation controls cell proliferation during craniofacial and dental development: implications for 22q11.2 deletion syndrome. Hum Mol Genet (2015) 0.84
In vivo genetic ablation of the periotic mesoderm affects cell proliferation survival and differentiation in the cochlea. Dev Biol (2007) 0.84
DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart looping and differentiation. PLoS One (2013) 0.83
Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients. PLoS One (2013) 0.83
Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome. Am J Cardiol (2011) 0.82
Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat. PLoS One (2014) 0.82
Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease. Physiol Genomics (2010) 0.82
Supportive evidence for reduced expression of GNB1L in schizophrenia. Schizophr Bull (2008) 0.82
Genome-wide association mapping and identification of candidate genes for the rumpless and ear-tufted traits of the Araucana chicken. PLoS One (2012) 0.82
Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers. J Natl Cancer Inst (2005) 13.00
Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. Nat Genet (2008) 9.39
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. Nat Genet (2008) 8.63
Integrative annotation of 21,037 human genes validated by full-length cDNA clones. PLoS Biol (2004) 7.17
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature (2003) 6.40
The medaka draft genome and insights into vertebrate genome evolution. Nature (2007) 5.77
A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians. Nat Genet (2009) 5.29
Genome sequence of the ultrasmall unicellular red alga Cyanidioschyzon merolae 10D. Nature (2004) 5.08
Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. Nat Genet (2012) 4.84
DMY is a Y-specific DM-domain gene required for male development in the medaka fish. Nature (2002) 4.73
Presence of epidermal growth factor receptor gene T790M mutation as a minor clone in non-small cell lung cancer. Cancer Res (2006) 4.72
Genome-wide association study of hematological and biochemical traits in a Japanese population. Nat Genet (2010) 4.36
Somatic mutations of the HER2 kinase domain in lung adenocarcinomas. Cancer Res (2005) 4.25
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet (2012) 3.71
Interleukin-22, a member of the IL-10 subfamily, induces inflammatory responses in colonic subepithelial myofibroblasts. Gastroenterology (2005) 3.65
Identification of eight members of the Argonaute family in the human genome. Genomics (2003) 3.55
LTRPC2 Ca2+-permeable channel activated by changes in redox status confers susceptibility to cell death. Mol Cell (2002) 3.36
A duplicated copy of DMRT1 in the sex-determining region of the Y chromosome of the medaka, Oryzias latipes. Proc Natl Acad Sci U S A (2002) 3.20
Genome-wide association study identifies a susceptibility locus for HCV-induced hepatocellular carcinoma. Nat Genet (2011) 3.19
New gene functions in megakaryopoiesis and platelet formation. Nature (2011) 3.14
Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies. Am J Hum Genet (2008) 3.12
The relationship between epidermal growth factor receptor mutations and clinicopathologic features in non-small cell lung cancers. Clin Cancer Res (2005) 3.11
Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet (2007) 3.08
Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. Gastroenterology (2009) 3.04
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04
A unified nomenclature for the superfamily of TRP cation channels. Mol Cell (2002) 2.99
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet (2009) 2.96
Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population. Nat Genet (2010) 2.92
Comparison of Disease Activity Score (DAS)28- erythrocyte sedimentation rate and DAS28- C-reactive protein threshold values. Ann Rheum Dis (2006) 2.81
A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B. Nat Genet (2010) 2.81
Meta-analysis identifies common variants associated with body mass index in east Asians. Nat Genet (2012) 2.70
A retrospective study of the relationship between serum urate level and recurrent attacks of gouty arthritis: evidence for reduction of recurrent gouty arthritis with antihyperuricemic therapy. Arthritis Rheum (2004) 2.57
Polymorphisms in the methylenetetrahydrofolate reductase gene were associated with both the efficacy and the toxicity of methotrexate used for the treatment of rheumatoid arthritis, as evidenced by single locus and haplotype analyses. Pharmacogenetics (2002) 2.47
Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction. J Hum Genet (2006) 2.41
Pharmacokinetics of gemcitabine in Japanese cancer patients: the impact of a cytidine deaminase polymorphism. J Clin Oncol (2007) 2.35
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. Nat Genet (2010) 2.34
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. Nat Genet (2012) 2.31
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. Nat Genet (2011) 2.27
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. Nat Genet (2009) 2.26
Sonic hedgehog myocardial gene therapy: tissue repair through transient reconstitution of embryonic signaling. Nat Med (2005) 2.24
UGT1A1 haplotypes associated with reduced glucuronidation and increased serum bilirubin in irinotecan-administered Japanese patients with cancer. Clin Pharmacol Ther (2004) 2.14
Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population. Nat Genet (2011) 2.10
Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas. Sci Rep (2011) 2.09
Variation in the DEPDC5 locus is associated with progression to hepatocellular carcinoma in chronic hepatitis C virus carriers. Nat Genet (2011) 2.09
A variable number of tandem repeats polymorphism in an E2F-1 binding element in the 5' flanking region of SMYD3 is a risk factor for human cancers. Nat Genet (2005) 2.08
The H-Invitational Database (H-InvDB), a comprehensive annotation resource for human genes and transcripts. Nucleic Acids Res (2007) 2.07
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. Nat Genet (2012) 2.05
Variations in the FTO gene are associated with severe obesity in the Japanese. J Hum Genet (2008) 2.03
The human ribosomal protein genes: sequencing and comparative analysis of 73 genes. Genome Res (2002) 2.03
Association of a novel long non-coding RNA in 8q24 with prostate cancer susceptibility. Cancer Sci (2010) 2.03
Smoke exposure, histologic type and geography-related differences in the methylation profiles of non-small cell lung cancer. Int J Cancer (2003) 2.01
Glycine/Serine polymorphism at position 38 influences KCNE1 subunit's modulatory actions on rapid and slow delayed rectifier K+ currents. Circ J (2014) 1.99
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet (2009) 1.96
A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population. Hum Mol Genet (2011) 1.96
Preoperative localization of small pulmonary lesions with a short hook wire and suture system: experience with 168 procedures. Radiology (2002) 1.96
Absence of the candidate male sex-determining gene dmrt1b(Y) of medaka from other fish species. Curr Biol (2003) 1.92
A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility. Hum Mol Genet (2008) 1.91
DNA sequence and analysis of human chromosome 8. Nature (2006) 1.91
Detection of EGFR gene mutation in lung cancer by mutant-enriched polymerase chain reaction assay. Clin Cancer Res (2006) 1.91
Topical sonic hedgehog gene therapy accelerates wound healing in diabetes by enhancing endothelial progenitor cell-mediated microvascular remodeling. Circulation (2006) 1.91
Surgical results of anomalous origin of the right pulmonary artery from the ascending aorta including reoperation for infrequent complications. Ann Thorac Surg (2008) 1.90
Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations. Nat Genet (2012) 1.90
Recommendations of the 2006 Human Variome Project meeting. Nat Genet (2007) 1.90
Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations. Nat Genet (2010) 1.90
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. Nat Genet (2013) 1.90
Adverse effects of sulfasalazine in patients with rheumatoid arthritis are associated with diplotype configuration at the N-acetyltransferase 2 gene. J Rheumatol (2002) 1.88
XAGE-1 expression in non-small cell lung cancer and antibody response in patients. Clin Cancer Res (2005) 1.87
A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. Nat Genet (2011) 1.86
Piccolo, a Ca2+ sensor in pancreatic beta-cells. Involvement of cAMP-GEFII.Rim2. Piccolo complex in cAMP-dependent exocytosis. J Biol Chem (2002) 1.85
Myeloid-related proteins 8 and 14 induce a specific inflammatory response in human microvascular endothelial cells. Blood (2004) 1.85
HCV substitutions and IL28B polymorphisms on outcome of peg-interferon plus ribavirin combination therapy. Gut (2010) 1.85
Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population. Hum Mol Genet (2010) 1.83
HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease. Gastroenterology (2011) 1.83
Endoscopic management of biliary complications after adult living donor liver transplantation. Am J Gastroenterol (2006) 1.78
Molecular cloning and expression analysis of a novel gene DGCR8 located in the DiGeorge syndrome chromosomal region. Biochem Biophys Res Commun (2003) 1.77
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E. Hum Genet (2010) 1.75
Origin and molecular evolution of the determinant of methicillin resistance in staphylococci. Antimicrob Agents Chemother (2010) 1.74
A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population. Nat Genet (2006) 1.73
Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population. Nat Genet (2008) 1.73