Published in Am J Hum Genet on December 09, 2011
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med (2014) 2.08
A morpholino-based screen to identify novel genes involved in craniofacial morphogenesis. Dev Dyn (2013) 0.90
EuFishBioMed (COST Action BM0804): a European network to promote the use of small fishes in biomedical research. Zebrafish (2012) 0.88
Molars and incisors: show your microarray IDs. BMC Res Notes (2013) 0.87
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta. Hum Mol Genet (2015) 0.85
Analysis of the canine brain transcriptome with an emphasis on the hypothalamus and cerebral cortex. Mamm Genome (2013) 0.85
The etiology of cleft palate formation in BMP7-deficient mice. PLoS One (2013) 0.82
Developmental disorders of the dentition: an update. Am J Med Genet C Semin Med Genet (2013) 0.81
Genome-wide analysis of gene expression in human embryonic tooth germ. J Mol Histol (2014) 0.77
Identification of the causative gene for Simmental arachnomelia syndrome using a network-based disease gene prioritization approach. PLoS One (2013) 0.77
Genetic Basis of Nonsyndromic and Syndromic Tooth Agenesis. J Pediatr Genet (2016) 0.75
Retinoic Acid Excess Impairs Amelogenesis Inducing Enamel Defects. Front Physiol (2017) 0.75
Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease. Hum Genome Var (2017) 0.75
Effective targeted gene 'knockdown' in zebrafish. Nat Genet (2000) 14.40
Developmental functions of the Distal-less/Dlx homeobox genes. Development (2002) 3.89
Inhibition of zebrafish fgf8 pre-mRNA splicing with morpholino oligos: a quantifiable method for gene knockdown. Genesis (2001) 3.04
SPARC, a matricellular protein: at the crossroads of cell-matrix communication. Matrix Biol (2001) 2.75
Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. Nature (1999) 2.64
The importance of signal pathway modulation in all aspects of tooth development. J Exp Zool B Mol Dev Evol (2009) 2.03
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. Orphanet J Rare Dis (2008) 1.66
The evolution of the vertebrate Dlx gene family. Proc Natl Acad Sci U S A (1996) 1.64
Role of Dlx-1 and Dlx-2 genes in patterning of the murine dentition. Development (1997) 1.51
Mouse Otlx2/RIEG expression in the odontogenic epithelium precedes tooth initiation and requires mesenchyme-derived signals for its maintenance. Dev Biol (1997) 1.51
The novel SPARC family member SMOC-2 potentiates angiogenic growth factor activity. J Biol Chem (2006) 1.45
SPARC is a source of copper-binding peptides that stimulate angiogenesis. J Cell Biol (1994) 1.40
Fgf signaling is required for zebrafish tooth development. Dev Biol (2004) 1.33
Characterization of SMOC-2, a modular extracellular calcium-binding protein. Biochem J (2003) 1.31
Independent regulation of Dlx2 expression in the epithelium and mesenchyme of the first branchial arch. Development (2000) 1.30
Developmental genetic mechanisms of evolutionary tooth loss in cypriniform fishes. Development (2006) 1.24
Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes. J Biol Chem (2002) 1.23
The SPARC-related factor SMOC-2 promotes growth factor-induced cyclin D1 expression and DNA synthesis via integrin-linked kinase. Mol Biol Cell (2007) 1.16
Dynamics of tooth formation and replacement in the zebrafish (Danio rerio) (Teleostei, Cyprinidae). Dev Dyn (2000) 1.16
Early development of the zebrafish (Danio rerio) pharyngeal dentition (Teleostei, Cyprinidae). Anat Embryol (Berl) (1998) 1.16
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. J Invest Dermatol (2009) 1.14
Mouse models of tooth abnormalities. Eur J Oral Sci (2008) 1.14
Transgenic analysis of Dlx regulation in fish tooth development reveals evolutionary retention of enhancer function despite organ loss. Proc Natl Acad Sci U S A (2006) 1.07
Dentin dysplasia type I: report of atypical cases in the permanent and mixed dentitions. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2004) 1.04
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes. Am J Med Genet B Neuropsychiatr Genet (2006) 0.99
Development of oral and pharyngeal teeth in the medaka (Oryzias latipes): comparison of morphology and expression of eve1 gene. J Exp Zool B Mol Dev Evol (2007) 0.97
SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet (2010) 0.97
Conservation and divergence of Bmp2a, Bmp2b, and Bmp4 expression patterns within and between dentitions of teleost fishes. Evol Dev (2006) 0.97
Prdm1a is necessary for posterior pharyngeal arch development in zebrafish. Dev Dyn (2009) 0.94
Developmental expression of Smoc1 and Smoc2 suggests potential roles in fetal gonad and reproductive tract differentiation. Dev Dyn (2009) 0.91
Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. Am J Hum Genet (2010) 0.90
Secreted modular calcium-binding protein-1 localization during mouse embryogenesis. Histochem Cell Biol (2006) 0.87
Transcriptome database KK-Periome for periodontal ligament development: expression profiles of the extracellular matrix genes. Gene (2007) 0.87
SMOC2 gene variant and the risk of vitiligo in Jordanian Arabs. Eur J Dermatol (2010) 0.85
bmp2b and bmp4 are dispensable for zebrafish tooth development. Dev Dyn (2010) 0.85
Dact1-3 mRNAs exhibit distinct expression domains during tooth development. Gene Expr Patterns (2010) 0.85
Evolution and homology of the nervous system: cross-phylum rescues of otd/Otx genes. Trends Genet (1998) 0.85
Enterotypes of the human gut microbiome. Nature (2011) 24.36
STRING 8--a global view on proteins and their functional interactions in 630 organisms. Nucleic Acids Res (2008) 20.62
The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored. Nucleic Acids Res (2010) 18.73
BAliBASE 3.0: latest developments of the multiple sequence alignment benchmark. Proteins (2005) 6.57
The ecoresponsive genome of Daphnia pulex. Science (2011) 6.55
EGFR and EphA2 are host factors for hepatitis C virus entry and possible targets for antiviral therapy. Nat Med (2011) 6.21
Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science (2010) 5.56
eggNOG: automated construction and annotation of orthologous groups of genes. Nucleic Acids Res (2007) 4.84
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
eggNOG v3.0: orthologous groups covering 1133 organisms at 41 different taxonomic ranges. Nucleic Acids Res (2011) 3.94
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
An integrated analysis of the genome of the hyperthermophilic archaeon Pyrococcus abyssi. Mol Microbiol (2003) 2.75
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Identification and characterization of rod-derived cone viability factor. Nat Genet (2004) 2.63
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
Comparative analysis of ribosomal proteins in complete genomes: an example of reductive evolution at the domain scale. Nucleic Acids Res (2002) 2.24
MACSIMS: multiple alignment of complete sequences information management system. BMC Bioinformatics (2006) 2.23
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
Identification of genes associated with tumorigenesis and metastatic potential of hypopharyngeal cancer by microarray analysis. Oncogene (2004) 2.19
Issues in bioinformatics benchmarking: the case study of multiple sequence alignment. Nucleic Acids Res (2010) 2.05
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet (2008) 2.04
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat (2007) 2.04
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79
PipeAlign: A new toolkit for protein family analysis. Nucleic Acids Res (2003) 1.78
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
A comprehensive benchmark study of multiple sequence alignment methods: current challenges and future perspectives. PLoS One (2011) 1.65
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet (2009) 1.58
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Orthology prediction methods: a quality assessment using curated protein families. Bioessays (2011) 1.56
The ATPase-dependent chaperoning activity of Hsp90a regulates thick filament formation and integration during skeletal muscle myofibrillogenesis. Development (2008) 1.52
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat (2007) 1.44
Sonic hedgehog, secreted by amacrine cells, acts as a short-range signal to direct differentiation and lamination in the zebrafish retina. Development (2004) 1.43
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
The evolutionary origin of peroxisomes: an ER-peroxisome connection. Mol Biol Evol (2006) 1.39
Ortho-proteogenomics: multiple proteomes investigation through orthology and a new MS-based protocol. Genome Res (2008) 1.36
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain (2012) 1.34
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A (2009) 1.33
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet (2012) 1.33
Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol (2008) 1.33
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol (2010) 1.32
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet (2013) 1.32
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol (2013) 1.31
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet (2012) 1.30
Cell-specific interaction of retinoic acid receptors with target genes in mouse embryonic fibroblasts and embryonic stem cells. Mol Cell Biol (2010) 1.30
Postural performance and strategy in the unipedal stance of soccer players at different levels of competition. J Athl Train (2006) 1.29
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
Sequence and comparative genomic analysis of actin-related proteins. Mol Biol Cell (2005) 1.28
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27
TBP2 is essential for germ cell development by regulating transcription and chromatin condensation in the oocyte. Genes Dev (2009) 1.27
OrthoInspector: comprehensive orthology analysis and visual exploration. BMC Bioinformatics (2011) 1.25
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.25
Rod-derived Cone Viability Factor-2 is a novel bifunctional-thioredoxin-like protein with therapeutic potential. BMC Mol Biol (2007) 1.24
Identification and functional characterization of a new member of the human Mcm protein family: hMcm8. Nucleic Acids Res (2003) 1.23
Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases. Am J Med Genet (2002) 1.20
DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet (2011) 1.20
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg (2005) 1.19
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.18
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care (2013) 1.18
PtdIns5P regulation through evolution: roles in membrane trafficking? Trends Biochem Sci (2008) 1.17
The myosin-interacting protein SMYD1 is essential for sarcomere organization. J Cell Sci (2011) 1.17
A new look towards BAC-based array CGH through a comprehensive comparison with oligo-based array CGH. BMC Genomics (2007) 1.17
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease. Proc Natl Acad Sci U S A (2009) 1.17
Non-USH2A mutations in USH2 patients. Hum Mutat (2012) 1.17
IntelliGO: a new vector-based semantic similarity measure including annotation origin. BMC Bioinformatics (2010) 1.16
Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet (2011) 1.14
Zebrafish embryos are susceptible to the dopaminergic neurotoxin MPTP. Eur J Neurosci (2005) 1.13
The use of zebrafish mutants to identify secondary target effects of acetylcholine esterase inhibitors. Toxicol Sci (2003) 1.11
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. Eur J Hum Genet (2007) 1.10
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet (2005) 1.10
Frequent genomic abnormalities at TWIST in human pediatric osteosarcomas. Int J Cancer (2005) 1.10
Signature of the oligomeric behaviour of nuclear receptors at the sequence and structural level. EMBO Rep (2004) 1.08