Published in Am J Hum Genet on February 04, 2010
The 'ins' and 'outs' of podosomes and invadopodia: characteristics, formation and function. Nat Rev Mol Cell Biol (2011) 4.24
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci Transl Med (2014) 1.55
A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus). PLoS One (2016) 1.39
A Src-Tks5 pathway is required for neural crest cell migration during embryonic development. PLoS One (2011) 1.16
Large-effect pleiotropic or closely linked QTL segregate within and across ten US cattle breeds. BMC Genomics (2014) 1.06
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Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b. Invest Ophthalmol Vis Sci (2011) 0.98
Spatiotemporal regulation of Src and its substrates at invadosomes. Eur J Cell Biol (2012) 0.97
Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media. PLoS One (2011) 0.95
Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration. J Biol Chem (2012) 0.93
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome. Eur J Hum Genet (2013) 0.92
The homolog of the five SH3-domain protein (HOFI/SH3PXD2B) regulates lamellipodia formation and cell spreading. PLoS One (2011) 0.91
Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure. BMC Med Genet (2012) 0.89
Mapping of Craniofacial Traits in Outbred Mice Identifies Major Developmental Genes Involved in Shape Determination. PLoS Genet (2015) 0.85
Metabolic regulation of invadopodia and invasion by acetyl-CoA carboxylase 1 and de novo lipogenesis. PLoS One (2012) 0.84
Genetic disruption of the sh3pxd2a gene reveals an essential role in mouse development and the existence of a novel isoform of tks5. PLoS One (2014) 0.84
Identification of CrkL-SH3 binding proteins from embryonic murine brain: implications for Reelin signaling during brain development. J Proteome Res (2011) 0.83
EGF regulates tyrosine phosphorylation and membrane-translocation of the scaffold protein Tks5. J Mol Signal (2013) 0.83
Redox signaling at invasive microdomains in cancer cells. Free Radic Biol Med (2011) 0.79
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. PLoS One (2015) 0.77
Metalloproteinase MT1-MMP islets act as memory devices for podosome reemergence. J Cell Biol (2016) 0.77
Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma. Mol Vis (2012) 0.77
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Expression, purification and preliminary crystallographic studies of the C-terminal SH3 domain of human Tks4. Acta Crystallogr F Struct Biol Commun (2014) 0.75
Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes. Cell Commun Signal (2015) 0.75
The role of Tks adaptor proteins in invadopodia formation, growth and metastasis of melanoma. Oncotarget (2016) 0.75
A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services. J Community Genet (2014) 0.75
The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages. Sci Rep (2016) 0.75
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Transthoracic echocardiography in models of cardiac disease in the mouse. Circulation (1996) 3.34
Assembly and biological role of podosomes and invadopodia. Curr Opin Cell Biol (2008) 3.26
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet (2003) 3.23
The adaptor protein Tks5/Fish is required for podosome formation and function, and for the protease-driven invasion of cancer cells. Cancer Cell (2005) 2.91
Invadosomes at a glance. J Cell Sci (2009) 1.70
The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation. Mol Biol Cell (2009) 1.68
Adhesions that mediate invasion. Int J Biochem Cell Biol (2006) 1.67
Serpentine fibula syndrome: expansion of the phenotype with three affected siblings. Clin Dysmorphol (1996) 1.55
Experimental mouse ocular hypertension: establishment of the model. Invest Ophthalmol Vis Sci (2003) 1.54
The mouse anterior chamber angle and trabecular meshwork develop without cell death. BMC Dev Biol (2001) 1.43
Mouse heart valve structure and function: echocardiographic and morphometric analyses from the fetus through the aged adult. Am J Physiol Heart Circ Physiol (2008) 1.40
Phoxy lipids: revealing PX domains as phosphoinositide binding modules. Cell (2001) 1.36
Reduction of intraocular pressure in mouse eyes treated with latanoprost. Invest Ophthalmol Vis Sci (2002) 1.17
Calpain is required for normal osteoclast function and is down-regulated by calcitonin. J Biol Chem (2006) 1.10
Identification of the mouse uveoscleral outflow pathway using fluorescent dextran. Invest Ophthalmol Vis Sci (2002) 1.05
The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development. Mamm Genome (2009) 1.05
Melnick-Needles syndrome: indication for an autosomal recessive form. Am J Med Genet (1982) 1.04
Further delineation of Frank-ter Haar syndrome. Am J Med Genet A (2004) 1.03
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Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. Am J Med Genet (1995) 0.90
Angle closure: classification, concepts, and the role of ultrasound biomicroscopy in diagnosis and treatment. Semin Ophthalmol (2002) 0.87
Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome. Am J Med Genet (1997) 0.84
Frank-ter Haar syndrome with unusual clinical features. Eur J Med Genet (2009) 0.84
Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family. Am J Med Genet (1997) 0.84
MicroRNA-133 controls cardiac hypertrophy. Nat Med (2007) 11.68
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
A de novo paradigm for mental retardation. Nat Genet (2010) 8.57
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet (2006) 6.15
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
The ADAMs family of metalloproteases: multidomain proteins with multiple functions. Genes Dev (2003) 4.47
The 'ins' and 'outs' of podosomes and invadopodia: characteristics, formation and function. Nat Rev Mol Cell Biol (2011) 4.24
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone. Genes Dev (2005) 3.38
Identification of a Wnt/Dvl/beta-Catenin --> Pitx2 pathway mediating cell-type-specific proliferation during development. Cell (2002) 3.37
The interplay between Src family kinases and receptor tyrosine kinases. Oncogene (2004) 3.36
Monocarboxylate transporter 1 deficiency and ketone utilization. N Engl J Med (2014) 3.36
Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med (2012) 3.27
Assembly and biological role of podosomes and invadopodia. Curr Opin Cell Biol (2008) 3.26
Concerted regulation of inorganic pyrophosphate and osteopontin by akp2, enpp1, and ank: an integrated model of the pathogenesis of mineralization disorders. Am J Pathol (2004) 3.15
Epicardial retinoid X receptor alpha is required for myocardial growth and coronary artery formation. Proc Natl Acad Sci U S A (2005) 3.13
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med (2011) 3.11
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet (2007) 3.08
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet (2007) 3.02
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
The adaptor protein Tks5/Fish is required for podosome formation and function, and for the protease-driven invasion of cancer cells. Cancer Cell (2005) 2.91
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Cutting edge: Essential role of hypoxia inducible factor-1alpha in development of lipopolysaccharide-induced sepsis. J Immunol (2007) 2.76
Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure. Development (2002) 2.71
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69
FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet (2008) 2.65
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61
Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60
Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen. Lancet Neurol (2008) 2.54
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science (2011) 2.47
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
A new method for detection and quantification of heartbeat parameters in Drosophila, zebrafish, and embryonic mouse hearts. Biotechniques (2009) 2.30
Next-generation genetic testing for retinitis pigmentosa. Hum Mutat (2012) 2.30
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30
The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol (2008) 2.29
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet (2010) 2.26
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet (2005) 2.25
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet (2003) 2.24
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. PLoS Genet (2010) 2.14
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet (2012) 2.12
Tracking retinal microgliosis in models of retinal ganglion cell damage. Invest Ophthalmol Vis Sci (2012) 2.10
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet (2011) 2.09
The adaptor protein fish associates with members of the ADAMs family and localizes to podosomes of Src-transformed cells. J Biol Chem (2003) 2.08
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat (2013) 2.07
p63-associated disorders. Cell Cycle (2007) 2.05
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci (2010) 1.98
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98
Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. Neurology (2003) 1.97
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94
The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet (2006) 1.94
Impaired calcification around matrix vesicles of growth plate and bone in alkaline phosphatase-deficient mice. Am J Pathol (2004) 1.93
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene. Am J Med Genet (2002) 1.91
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science (2013) 1.91
WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn (2010) 1.91
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A (2008) 1.91
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan. Nat Genet (2012) 1.90
Intestinal alkaline phosphatase prevents metabolic syndrome in mice. Proc Natl Acad Sci U S A (2013) 1.89
Mouse PeP: a novel peroxisomal protein linked to myoblast differentiation and development. Dev Dyn (2002) 1.87
Cardiac muscle regeneration: lessons from development. Genes Dev (2011) 1.86
Identification of disease genes by whole genome CGH arrays. Hum Mol Genet (2005) 1.85
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet (2006) 1.84
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet (2009) 1.84
Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer. Cancer Res (2002) 1.84
Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet (2003) 1.83
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Linked deficiencies in extracellular PP(i) and osteopontin mediate pathologic calcification associated with defective PC-1 and ANK expression. J Bone Miner Res (2003) 1.83
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet (2007) 1.82
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J Med Genet (2011) 1.81
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78
Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol (2010) 1.75