Published in Eur J Hum Genet on July 05, 2006
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
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet (2008) 1.44
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet (2010) 1.33
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Hum Mol Genet (2014) 1.29
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. Genome Med (2012) 1.18
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney. Pediatr Nephrol (2011) 1.04
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. Mol Vis (2010) 0.94
Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome. Hum Genet (2012) 0.87
Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa. Mol Vis (2008) 0.85
Bardet-Biedl Syndrome. Mol Syndromol (2016) 0.76
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. Sci Rep (2016) 0.75
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol (2016) 0.75
Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome. BMC Med Genet (2017) 0.75
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
Novel insights into the relationships between dendritic cell subsets in human and mouse revealed by genome-wide expression profiling. Genome Biol (2008) 3.93
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
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
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Mol Cell (2002) 2.98
An integrated analysis of the genome of the hyperthermophilic archaeon Pyrococcus abyssi. Mol Microbiol (2003) 2.75
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet (2003) 2.71
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Identification and characterization of rod-derived cone viability factor. Nat Genet (2004) 2.63
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet (2007) 2.48
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
SOX2 is an oncogene activated by recurrent 3q26.3 amplifications in human lung squamous cell carcinomas. PLoS One (2010) 2.21
Identification of genes associated with tumorigenesis and metastatic potential of hypopharyngeal cancer by microarray analysis. Oncogene (2004) 2.19
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet (2013) 2.10
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. N Engl J Med (2016) 2.09
Notch activation is an early and critical event during T-Cell leukemogenesis in Ikaros-deficient mice. Mol Cell Biol (2006) 2.09
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
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
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Hum Mol Genet (2003) 2.00
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Gain-of-function mutations in TRPM4 cause autosomal dominant isolated cardiac conduction disease. Circ Cardiovasc Genet (2010) 1.92
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A (2002) 1.91
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat Med (2011) 1.87
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet (2004) 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
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A (2009) 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
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
Mutations in TREM2 lead to pure early-onset dementia without bone cysts. Hum Mutat (2008) 1.78
PipeAlign: A new toolkit for protein family analysis. Nucleic Acids Res (2003) 1.78
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review. Am J Med Genet A (2004) 1.76
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Loss of Trim24 (Tif1alpha) gene function confers oncogenic activity to retinoic acid receptor alpha. Nat Genet (2007) 1.68
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
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol Genet (2010) 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
FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts. Hum Mol Genet (2005) 1.60
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet (2009) 1.58
Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem (2003) 1.58
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet (2007) 1.58
Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Curr Opin Genet Dev (2002) 1.57
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Heterozygous OPA1 mutations in Behr syndrome. Brain (2010) 1.57
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome. Cell Rep (2013) 1.56
Orthology prediction methods: a quality assessment using curated protein families. Bioessays (2011) 1.56
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet (2006) 1.53
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet (2013) 1.50
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat (2007) 1.48