Published in Am J Hum Genet on November 01, 2008
A probabilistic disease-gene finder for personal genomes. Genome Res (2011) 3.23
A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. Nat Genet (2013) 1.19
Mesodermal developmental gene Tbx15 impairs adipocyte differentiation and mitochondrial respiration. Proc Natl Acad Sci U S A (2011) 1.14
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet (2009) 0.98
The T-box gene family: emerging roles in development, stem cells and cancer. Development (2014) 0.96
Digital gene expression tag profiling of bat digits provides robust candidates contributing to wing formation. BMC Genomics (2010) 0.93
Pbx homeodomain proteins: TALEnted regulators of limb patterning and outgrowth. Dev Dyn (2011) 0.89
Mapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape Determination. PLoS Genet (2015) 0.85
Myogenic differential methylation: diverse associations with chromatin structure. Biology (Basel) (2014) 0.82
A genome-wide association study identifies multiple loci for variation in human ear morphology. Nat Commun (2015) 0.82
Tbx15 controls skeletal muscle fibre-type determination and muscle metabolism. Nat Commun (2015) 0.80
Signatures of archaic adaptive introgression in present-day human populations. Mol Biol Evol (2016) 0.79
Archaic Adaptive Introgression in TBX15/WARS2. Mol Biol Evol (2017) 0.78
A new TBX gene linked to human disease. Clin Genet (2009) 0.76
Control of pelvic girdle development by genes of the Pbx family and Emx2. Dev Dyn (2011) 0.76
Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins. Mol Genet Genomics (2009) 0.76
NF-κB Mediates the Expression of TBX15 in Cancer Cells. PLoS One (2016) 0.75
Production of high-titer helper-free retroviruses by transient transfection. Proc Natl Acad Sci U S A (1993) 22.33
Advanced mammalian gene transfer: high titre retroviral vectors with multiple drug selection markers and a complementary helper-free packaging cell line. Nucleic Acids Res (1990) 20.53
Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A (2007) 5.15
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet (1997) 5.11
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell (2001) 4.60
Role of TBX1 in human del22q11.2 syndrome. Lancet (2003) 4.45
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
T-box genes in vertebrate development. Annu Rev Genet (2005) 3.00
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am J Hum Genet (2007) 1.97
The T-box family. Genome Biol (2002) 1.69
Dorsoventral patterning of the mouse coat by Tbx15. PLoS Biol (2004) 1.36
The T-box transcription factor Tbx15 is required for skeletal development. Mech Dev (2005) 1.35
Transcriptional repression by the T-box proteins Tbx18 and Tbx15 depends on Groucho corepressors. J Biol Chem (2007) 1.31
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. J Clin Endocrinol Metab (2004) 1.29
Premature senescence is a primary fail-safe mechanism of ERBB2-driven tumorigenesis in breast carcinoma cells. Cancer Res (2005) 1.23
Genetics of shoulder girdle formation: roles of Tbx15 and aristaless-like genes. Development (2005) 1.12
Cloning, mapping, and expression analysis of TBX15, a new member of the T-Box gene family. Genomics (1998) 0.96
Genetical and development studies on droopy-eared mice. J Embryol Exp Morphol (1959) 0.89
[Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)]. Arch Fr Pediatr (1982) 0.82
Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases. Am J Med Genet (2000) 0.81
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet (2006) 5.29
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet (2003) 5.24
Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A (2007) 5.15
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet (2002) 4.64
Sox9 regulates cell proliferation and is required for Paneth cell differentiation in the intestinal epithelium. J Cell Biol (2007) 4.52
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
SOX9 is required for maintenance of the pancreatic progenitor cell pool. Proc Natl Acad Sci U S A (2007) 4.19
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet (2003) 4.14
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Liver disintegration in the mouse embryo caused by deficiency in the RNA-editing enzyme ADAR1. J Biol Chem (2003) 3.68
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA (2007) 3.62
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55
Wnt11 and Ret/Gdnf pathways cooperate in regulating ureteric branching during metanephric kidney development. Development (2003) 3.08
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
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
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Hum Mol Genet (2004) 2.63
Tbx18 and the fate of epicardial progenitors. Nature (2009) 2.42
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest (2011) 2.21
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med (2016) 2.15
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet (2010) 2.12
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet (2002) 2.06
The Tbx2+ primary myocardium of the atrioventricular canal forms the atrioventricular node and the base of the left ventricle. Circ Res (2009) 2.02
TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i. Proc Natl Acad Sci U S A (2003) 2.01
Controlled gene expression in primary Lgr5 organoid cultures. Nat Methods (2011) 1.98
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet (2012) 1.93
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A (2008) 1.91
Formation of the sinus node head and differentiation of sinus node myocardium are independently regulated by Tbx18 and Tbx3. Circ Res (2008) 1.90
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat Genet (2010) 1.89
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat (2009) 1.85
Identification of multipotent progenitors in the embryonic mouse kidney by a novel colony-forming assay. Development (2005) 1.85
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
Tbx3 promotes liver bud expansion during mouse development by suppression of cholangiocyte differentiation. Hepatology (2009) 1.80
Cystin localizes to primary cilia via membrane microdomains and a targeting motif. J Am Soc Nephrol (2009) 1.79
Conditional inactivation of Sox9: a mouse model for campomelic dysplasia. Genesis (2002) 1.78
Secreted Frizzled-related protein 2 is a procollagen C proteinase enhancer with a role in fibrosis associated with myocardial infarction. Nat Cell Biol (2008) 1.76
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One (2008) 1.76
Formation of the venous pole of the heart from an Nkx2-5-negative precursor population requires Tbx18. Circ Res (2006) 1.70
Long-range upstream and downstream enhancers control distinct subsets of the complex spatiotemporal Sox9 expression pattern. Dev Biol (2006) 1.68
Sox9 is required for precursor cell expansion and extracellular matrix organization during mouse heart valve development. Dev Biol (2007) 1.67
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A (2004) 1.66
Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. Proc Natl Acad Sci U S A (2005) 1.65
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet (2006) 1.63
Tbx18 regulates the development of the ureteral mesenchyme. J Clin Invest (2006) 1.63
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Tbx20 is essential for cardiac chamber differentiation and repression of Tbx2. Development (2005) 1.61
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. Hum Mol Genet (2003) 1.59
Homozygous inactivation of Sox9 causes complete XY sex reversal in mice. Biol Reprod (2005) 1.59
Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthma. Am J Respir Crit Care Med (2005) 1.58
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 1.57
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res (2011) 1.53
Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. Am J Hum Genet (2010) 1.49
Of mice and models: improved animal models for biomedical research. Physiol Genomics (2002) 1.49
Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women. Am J Med Genet A (2004) 1.48
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features. Orphanet J Rare Dis (2014) 1.47
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet (2012) 1.46
Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis. Eur J Pediatr (2008) 1.46
Development of the pacemaker tissues of the heart. Circ Res (2010) 1.46
The T-box transcription factor Tbx18 maintains the separation of anterior and posterior somite compartments. Genes Dev (2004) 1.46
Wilms tumor, AML and medulloblastoma in a child with cancer prone syndrome of total premature chromatid separation and Fanconi anemia. Pediatr Blood Cancer (2009) 1.46
Epicardial function of canonical Wnt-, Hedgehog-, Fgfr1/2-, and Pdgfra-signalling. Cardiovasc Res (2013) 1.45
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45
In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy. Hum Mutat (2013) 1.45
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
The natural history of severe anemia in cartilage-hair hypoplasia. Am J Med Genet A (2005) 1.44
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Hum Mol Genet (2005) 1.43
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet (2005) 1.40
Paracrine and autocrine mechanisms of apelin signaling govern embryonic and tumor angiogenesis. Dev Biol (2007) 1.40
Normal lung development and function after Sox9 inactivation in the respiratory epithelium. Genesis (2005) 1.39
Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet (2013) 1.39
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet (2013) 1.39
SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex. Nucleic Acids Res (2002) 1.38
A mutation screen in patients with Kabuki syndrome. Hum Genet (2011) 1.36
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet (2009) 1.35
The evolution of sagittal segmental alignment of the spine during childhood. Spine (Phila Pa 1976) (2005) 1.35