Published in F1000Res on November 13, 2013
Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet (2000) 336.52
BLAT--the BLAST-like alignment tool. Genome Res (2002) 126.78
Identification and characterization of the familial adenomatous polyposis coli gene. Cell (1991) 14.46
UniProt Knowledgebase: a hub of integrated protein data. Database (Oxford) (2011) 11.43
A conditional knockout resource for the genome-wide study of mouse gene function. Nature (2011) 9.93
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat Genet (2000) 7.20
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet (2001) 6.96
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science (1996) 6.56
The Mouse Genome Database (MGD): comprehensive resource for genetics and genomics of the laboratory mouse. Nucleic Acids Res (2011) 5.60
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet (2003) 5.16
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet (1996) 5.15
Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol (2011) 4.48
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet (2003) 4.14
Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med (1995) 3.52
QuickGO: a web-based tool for Gene Ontology searching. Bioinformatics (2009) 3.36
Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. N Engl J Med (2001) 3.29
Formalization of taxon-based constraints to detect inconsistencies in annotation and ontology development. BMC Bioinformatics (2010) 3.10
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet (1994) 2.83
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations. Am J Hum Genet (2004) 2.67
X-linked situs abnormalities result from mutations in ZIC3. Nat Genet (1997) 2.62
The zebrafish nodal-related gene southpaw is required for visceral and diencephalic left-right asymmetry. Development (2003) 2.56
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet (2002) 2.46
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet (2010) 2.25
RhoA-mediated apical actin enrichment is required for ciliogenesis and promoted by Foxj1. J Cell Sci (2007) 2.14
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. Am J Hum Genet (2009) 2.07
Genetic dissection of nodal function in patterning the mouse embryo. Development (2001) 2.07
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet (1994) 2.06
Zebrafish as a model to study cardiac development and human cardiac disease. Cardiovasc Res (2011) 2.03
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet (2012) 1.99
Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet (2008) 1.86
Left-right pattern of cardiac BMP4 may drive asymmetry of the heart in zebrafish. Development (1997) 1.84
Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome. PLoS Biol (2011) 1.77
Homeodomain factor Nkx2-5 controls left/right asymmetric expression of bHLH gene eHand during murine heart development. Genes Dev (1997) 1.77
The representation of heart development in the gene ontology. Dev Biol (2011) 1.77
Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya. Nat Genet (2006) 1.76
HCOP: a searchable database of human orthology predictions. Brief Bioinform (2006) 1.73
Heart field: from mesoderm to heart tube. Annu Rev Cell Dev Biol (2007) 1.68
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. Am J Hum Genet (2009) 1.65
Left-right asymmetry and congenital cardiac defects: getting to the heart of the matter in vertebrate left-right axis determination. Dev Biol (2005) 1.61
Pbx/Meis deficiencies demonstrate multigenetic origins of congenital heart disease. Circ Res (2008) 1.54
GONUTS: the Gene Ontology Normal Usage Tracking System. Nucleic Acids Res (2011) 1.52
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet (2012) 1.48
Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene. Hum Mol Genet (2008) 1.46
Wnt5 signaling in vertebrate pancreas development. BMC Biol (2005) 1.45
High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. Circulation (2012) 1.44
Strategies to establish left/right asymmetry in vertebrates and invertebrates. Curr Opin Genet Dev (2007) 1.39
Shp2 knockdown and Noonan/LEOPARD mutant Shp2-induced gastrulation defects. PLoS Genet (2007) 1.37
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A (2008) 1.30
The Cerberus/Dan-family protein Charon is a negative regulator of Nodal signaling during left-right patterning in zebrafish. Development (2004) 1.28
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet (1999) 1.27
Human heterotaxy syndrome – from molecular genetics to clinical features, management, and prognosis – . Circ J (2012) 1.24
Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. Am J Hum Genet (1999) 1.23
Rotation and asymmetric development of the zebrafish heart requires directed migration of cardiac progenitor cells. Dev Cell (2008) 1.20
Nephrocystin-3 is required for ciliary function in zebrafish embryos. Am J Physiol Renal Physiol (2010) 1.17
Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart (2009) 1.16
Direct and indirect roles for Nodal signaling in two axis conversions during asymmetric morphogenesis of the zebrafish heart. Proc Natl Acad Sci U S A (2008) 1.15
Notch signaling in cardiac development and disease. Curr Top Dev Biol (2010) 1.08
Left-right patterning: conserved and divergent mechanisms. Development (2012) 1.06
Asymmetric involution of the myocardial field drives heart tube formation in zebrafish. Circ Res (2008) 1.04
Glycogen synthase kinase 3 alpha and 3 beta have distinct functions during cardiogenesis of zebrafish embryo. BMC Dev Biol (2007) 1.02
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. J Med Genet (2012) 1.02
Association of PKD2 (polycystin 2) mutations with left-right laterality defects. Am J Kidney Dis (2011) 1.01
Distinct functions of Wnt/beta-catenin signaling in KV development and cardiac asymmetry. Development (2009) 1.01
Zebrafish Nkd1 promotes Dvl degradation and is required for left-right patterning. Dev Biol (2010) 1.00
Two novel type II receptors mediate BMP signalling and are required to establish left-right asymmetry in zebrafish. Dev Biol (2007) 0.99
Mutations in the human naked cuticle homolog NKD1 found in colorectal cancer alter Wnt/Dvl/beta-catenin signaling. PLoS One (2009) 0.98
The actin nucleator Cordon-bleu is required for development of motile cilia in zebrafish. Dev Biol (2010) 0.97
A southpaw joins the roster: the role of the zebrafish nodal-related gene southpaw in cardiac LR asymmetry. Trends Cardiovasc Med (2004) 0.93
Nodal-dependent mesendoderm specification requires the combinatorial activities of FoxH1 and Eomesodermin. PLoS Genet (2011) 0.92
The anatomy of cardiac looping: a step towards the understanding of the morphogenesis of several forms of congenital cardiac malformations. Clin Anat (2009) 0.91
Cutting edge: Foxj1 protects against autoimmunity and inhibits thymocyte egress. J Immunol (2005) 0.91
The activation of membrane targeted CaMK-II in the zebrafish Kupffer's vesicle is required for left-right asymmetry. Development (2010) 0.90
Nodal signaling promotes the speed and directional movement of cardiomyocytes in zebrafish. Dev Dyn (2008) 0.88
Both foxj1a and foxj1b are implicated in left-right asymmetric development in zebrafish embryos. Biochem Biophys Res Commun (2009) 0.87
Integration of nodal and BMP signals in the heart requires FoxH1 to create left-right differences in cell migration rates that direct cardiac asymmetry. PLoS Genet (2013) 0.87
Left-right axis development: examples of similar and divergent strategies to generate asymmetric morphogenesis in chick and mouse embryos. Cytogenet Genome Res (2007) 0.87
A variant of fibroblast growth factor receptor 2 (Fgfr2) regulates left-right asymmetry in zebrafish. PLoS One (2011) 0.85
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. J Mol Diagn (2009) 0.79
Transcriptional control of left-right patterning in cardiac development. Pediatr Cardiol (2010) 0.78
Forkhead box H1 (FOXH1) sequence variants in ventricular septal defect. Int J Cardiol (2009) 0.76