PubRank

Val C Sheffield

Author PubWeight™ 193.86‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010 14.66
2 A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 2007 10.75
3 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
4 Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 2011 3.95
5 A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010 3.42
6 A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev Cell 2008 3.17
7 Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med 2004 3.15
8 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
9 Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. Proc Natl Acad Sci U S A 2004 3.01
10 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet 2002 2.94
11 Regulation of gene expression in the mammalian eye and its relevance to eye disease. Proc Natl Acad Sci U S A 2006 2.91
12 Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet 2004 2.67
13 Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet 2002 2.63
14 Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet 2012 2.46
15 Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome. Proc Natl Acad Sci U S A 2011 2.44
16 LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. Am J Ophthalmol 2007 2.43
17 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
18 Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. Hum Mol Genet 2006 2.32
19 Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet 2005 2.25
20 Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology 2012 2.21
21 Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. Hum Mol Genet 2009 2.16
22 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Proc Natl Acad Sci U S A 2010 2.09
23 Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. J Clin Invest 2008 2.07
24 Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet 2005 2.04
25 An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. Genes Dev 2011 2.00
26 Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet 2003 1.98
27 An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol 2014 1.95
28 Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa. Proc Natl Acad Sci U S A 2011 1.87
29 Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum Mol Genet 2011 1.74
30 The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A 2002 1.73
31 Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. J Clin Invest 2011 1.69
32 Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene. Am J Med Genet B Neuropsychiatr Genet 2005 1.64
33 Myocilin glaucoma. Surv Ophthalmol 2002 1.63
34 A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PLoS Genet 2011 1.49
35 Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet 2011 1.49
36 Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. Proc Natl Acad Sci U S A 2008 1.49
37 A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci U S A 2009 1.47
38 Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet 2008 1.44
39 Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. Hum Mol Genet 2007 1.44
40 Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. Am J Ophthalmol 2003 1.43
41 Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem 2012 1.42
42 Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci 2006 1.39
43 Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure. J Clin Invest 2008 1.39
44 Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet 2004 1.36
45 ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Proc Natl Acad Sci U S A 2012 1.34
46 BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet 2012 1.33
47 Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proc Natl Acad Sci U S A 2011 1.32
48 A constrained-likelihood approach to marker-trait association studies. Am J Hum Genet 2005 1.32
49 A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthalmol 2003 1.30
50 Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. Invest Ophthalmol Vis Sci 2007 1.28
51 Variations in the myocilin gene in patients with open-angle glaucoma. Arch Ophthalmol 2002 1.28
52 Genome-wide identification of pseudogenes capable of disease-causing gene conversion. Hum Mutat 2006 1.27
53 Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Hum Mol Genet 2013 1.27
54 Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet 2003 1.27
55 Evaluation of FOXP2 as an autism susceptibility gene. Am J Med Genet 2002 1.25
56 Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy. Ophthalmic Genet 2008 1.24
57 High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence. Genome Res 2004 1.21
58 Establishing a connection between cilia and Bardet-Biedl Syndrome. Trends Mol Med 2004 1.16
59 Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. PLoS Genet 2010 1.12
60 Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nat Genet 2003 1.12
61 The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. Arch Ophthalmol 2002 1.12
62 The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Hum Mol Genet 2011 1.11
63 ESTprep: preprocessing cDNA sequence reads. Bioinformatics 2003 1.10
64 Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration. PLoS Genet 2012 1.10
65 Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population. Hum Mol Genet 2010 1.10
66 Mechanosensitive release of adenosine 5'-triphosphate through pannexin channels and mechanosensitive upregulation of pannexin channels in optic nerve head astrocytes: a mechanism for purinergic involvement in chronic strain. Glia 2014 1.09
67 TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice. Invest Ophthalmol Vis Sci 2012 1.09
68 Performance of cochlear implant recipients with GJB2-related deafness. Am J Med Genet 2002 1.09
69 BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. J Cell Sci 2013 1.08
70 Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model. Nat Med 2012 1.08
71 1274 full-open reading frames of transcripts expressed in the developing mouse nervous system. Genome Res 2004 1.08
72 No association between variations in the WDR36 gene and primary open-angle glaucoma. Arch Ophthalmol 2007 1.06
73 Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. Ophthalmology 2003 1.06
74 Mice defective in Trpm6 show embryonic mortality and neural tube defects. Hum Mol Genet 2009 1.04
75 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. Hum Mutat 2010 1.04
76 Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Arch Ophthalmol 2011 1.04
77 Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene. Am J Med Genet B Neuropsychiatr Genet 2008 1.03
78 Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am J Hum Genet 2010 1.03
79 High-throughput gene discovery in the rat. Genome Res 2004 1.02
80 Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus. Vision Res 2004 1.02
81 Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Am J Med Genet A 2005 1.02
82 Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma. J Clin Invest 2014 1.00
83 Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light. Eur J Neurosci 2008 0.99
84 Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. Arch Ophthalmol 2008 0.99
85 BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet 2013 0.99
86 Copy number variations and primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2011 0.99
87 Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2012 0.99
88 Complement factor H polymorphism p.Tyr402His and cuticular Drusen. Arch Ophthalmol 2007 0.98
89 A genome-wide association study for primary open angle glaucoma and macular degeneration reveals novel Loci. PLoS One 2013 0.97
90 Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Hum Mol Genet 2011 0.96
91 Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. Eur J Hum Genet 2006 0.96
92 Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. Arch Ophthalmol 2002 0.95
93 Light aversion in mice depends on nonimage-forming irradiance detection. Behav Neurosci 2010 0.92
94 Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. Vision Res 2012 0.91
95 Systematic screening for subtelomeric anomalies in a clinical sample of autism. J Autism Dev Disord 2007 0.91
96 Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. Am J Med Genet A 2005 0.91
97 Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse. Vis Neurosci 2005 0.91
98 Genome-wide analysis of copy number variants in age-related macular degeneration. Hum Genet 2010 0.91
99 Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice. J Orthop Res 2009 0.90
100 Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil. J Glaucoma 2002 0.89
101 A case of autism and uniparental disomy of chromosome 1. Hum Genet 2005 0.89
102 Congenital myopathy is caused by mutation of HACD1. Hum Mol Genet 2013 0.89
103 Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. J Clin Endocrinol Metab 2013 0.88
104 A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation. Am J Ophthalmol 2002 0.87
105 Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Ophthalmic Genet 2008 0.87
106 Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot. Clin Orthop Relat Res 2009 0.87
107 The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from Iowa. Ophthalmic Genet 2006 0.86
108 Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis. J Pediatr Orthop 2010 0.85
109 HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease. Hum Immunol 2002 0.84
110 Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. PLoS One 2013 0.84
111 Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot. J Pediatr Orthop 2010 0.83
112 Case of Stargardt disease caused by uniparental isodisomy. Arch Ophthalmol 2006 0.83
113 Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity. Genet Med 2010 0.83
114 Familial cavitary optic disk anomalies: identification of a novel genetic locus. Am J Ophthalmol 2007 0.83
115 Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism. Psychiatr Genet 2012 0.82
116 Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. Am J Med Genet A 2008 0.82
117 Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12. Hum Genet 2010 0.81
118 Inactivation of Bardet-Biedl syndrome genes causes kidney defects. Am J Physiol Renal Physiol 2010 0.81
119 Prioritizing regions of candidate genes for efficient mutation screening. Hum Mutat 2006 0.80
120 Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. J Clin Invest 2015 0.80
121 Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes. Am J Physiol Heart Circ Physiol 2010 0.79
122 A comprehensive nonredundant expressed sequence tag collection for the developing Rattus norvegicus heart. Physiol Genomics 2004 0.79
123 Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16. Psychiatr Genet 2008 0.79
124 Transcript annotation prioritization and screening system (TrAPSS) for mutation screening. J Bioinform Comput Biol 2007 0.76
125 Author reply: To PMID 22944025. Ophthalmology 2013 0.75
126 Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree. Ophthalmic Genet 2007 0.75