Published in Eur J Hum Genet on February 22, 2012
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res (2012) 1.47
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
Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. Eur J Hum Genet (2012) 1.11
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. Orphanet J Rare Dis (2013) 1.11
Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. Invest Ophthalmol Vis Sci (2013) 1.01
Update on the genetics of bardet-biedl syndrome. Mol Syndromol (2013) 1.00
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Am J Hum Genet (2013) 0.95
Mouse models of ciliopathies: the state of the art. Dis Model Mech (2012) 0.94
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome. Mol Vis (2013) 0.92
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PLoS Genet (2015) 0.87
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
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. PLoS One (2014) 0.86
Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family. Mol Genet Genomic Med (2013) 0.82
Characterizing the morbid genome of ciliopathies. Genome Biol (2016) 0.80
Bardet-Biedl Syndrome. Mol Syndromol (2016) 0.76
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. BMC Med Genet (2016) 0.76
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol (2016) 0.75
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. Sci Rep (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
A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res (2005) 11.02
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell (2004) 6.10
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature (2003) 5.96
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet (1999) 5.92
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science (2001) 5.22
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med (1989) 4.41
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A (2006) 4.16
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev (2004) 3.21
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. Proc Natl Acad Sci U S A (2004) 3.11
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet (2002) 2.94
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature (2005) 2.90
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet (2004) 2.64
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proc Natl Acad Sci U S A (2010) 2.45
The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med (1988) 2.36
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. Proc Natl Acad Sci U S A (2007) 2.36
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet (2006) 2.32
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet (2005) 2.04
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet (2003) 2.04
The nonmotile ciliopathies. Genet Med (2009) 1.91
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet (2003) 1.87
Assembly of primary cilia. Dev Dyn (2008) 1.84
Homozygosity mapping: one more tool in the clinical geneticist's toolbox. Genet Med (2010) 1.70
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet (2002) 1.44
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet (2008) 1.44
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A pair of siblings with adiposo-genital dystrophy. 1922. Obes Res (1995) 1.34
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
Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A (2009) 1.28
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet (2010) 1.19
Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis (2009) 1.18
Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. J Med Genet (2009) 1.17
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet (2002) 1.14
Craniofacial syndromes: no such thing as a single gene disease. Nat Genet (1995) 1.03
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies. Mol Syndromol (2010) 0.99
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. Invest Ophthalmol Vis Sci (2006) 0.99
Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs. Clin Genet (2011) 0.93
Triallelic inheritance: a bridge between Mendelian and multifactorial traits. Ann Med (2004) 0.92
Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. Int Ophthalmol (1999) 0.82
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. Am J Med Genet A (2005) 0.81
Genetic complexity in single gene diseases. BMJ (1996) 0.80
An SCN9A channelopathy causes congenital inability to experience pain. Nature (2006) 7.01
LOVD v.2.0: the next generation in gene variant databases. Hum Mutat (2011) 5.53
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat (2008) 4.22
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat (2005) 2.86
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science (2011) 2.78
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet (2004) 2.76
Using whole-exome sequencing to identify inherited causes of autism. Neuron (2013) 2.74
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet (2008) 2.65
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell (2010) 2.49
Two-year survival of Ahmed valve implantation in the first 2 years of life with and without intraoperative mitomycin-C. Ophthalmology (2009) 2.23
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet (2013) 2.12
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
Deep sequencing to reveal new variants in pooled DNA samples. Hum Mutat (2009) 2.04
Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet (2011) 2.02
New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nat Genet (2012) 1.90
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet (2005) 1.85
High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium. Genome Res (2005) 1.85
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet (2007) 1.85
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet (2003) 1.84
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Bilateral response following unilateral intravitreal bevacizumab injection in a child with uveitic cystoid macular edema. J AAPOS (2009) 1.76
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (2012) 1.74
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet (2009) 1.73
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat (2010) 1.67
Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab (2003) 1.65
Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet (2013) 1.61
Novel CENPJ mutation causes Seckel syndrome. J Med Genet (2010) 1.61
Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol (2010) 1.60
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet (2009) 1.59
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. Am J Hum Genet (2011) 1.58
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet (2011) 1.57
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet (2006) 1.56
A novel X-linked disorder with developmental delay and autistic features. Ann Neurol (2011) 1.54
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet (2012) 1.49
Progression of age-related macular degeneration after cataract surgery. Arch Ophthalmol (2009) 1.49
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. Genome Res (2012) 1.47
A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family. J Clin Immunol (2013) 1.46
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet (2012) 1.45
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nat Genet (2011) 1.43
Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism. Am J Med Genet A (2011) 1.42
Community genetics. Its definition 2010. J Community Genet (2010) 1.42
Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency? Gene (2012) 1.41
Clinical characterisation of the CABP4-related retinal phenotype. Br J Ophthalmol (2012) 1.41
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis (2010) 1.41
FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. Am J Hum Genet (2009) 1.41
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One (2013) 1.40
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J Med Genet (2012) 1.32
Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene (2004) 1.32
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet (2011) 1.31
Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. J Am Soc Nephrol (2005) 1.31
Curating gene variant databases (LSDBs): toward a universal standard. Hum Mutat (2011) 1.30
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet (2007) 1.30
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. BMC Med Genet (2006) 1.29
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum Mutat (2011) 1.28
Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A (2009) 1.28
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol (2012) 1.26
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. J Med Genet (2011) 1.26
Polymorphism of mu-opioid receptor gene (OPRM1:c.118A>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response. Anesthesiology (2005) 1.23
Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res (2014) 1.22
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet (2013) 1.20
Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet (2011) 1.20
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet (2013) 1.18
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet (2012) 1.18
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis (2013) 1.18
The distinct ophthalmic phenotype of Knobloch syndrome in children. Br J Ophthalmol (2012) 1.18
Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis (2009) 1.18
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet (2012) 1.16