Val C Sheffield

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Val C Sheffield is affiliated with the following schools: University of California, Berkeley, Stanford University, University of Iowa

Val C Sheffield's AcademicInfluence.com Rankings

Val C Sheffield

Computer Science

#5295

World Rank

#5594

Historical Rank

Computational Linguistics

#701

World Rank

#713

Historical Rank

Machine Learning

#1349

World Rank

#1370

Historical Rank

Artificial Intelligence

#1584

World Rank

#1614

Historical Rank

computer-science Degrees

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Computer Science

Val C Sheffield's Degrees

PhD Computer Science Stanford University
Masters Computer Science University of California, Berkeley
Bachelors Computer Science University of California, Berkeley

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Val C Sheffield's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Functional impact of global rare copy number variation in autism spectrum disorders (2010) (1891)
Identification of a Gene That Causes Primary Open Angle Glaucoma (1997) (1403)
Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007) (1382)
Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. (1989) (1346)
A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis (2007) (1308)
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) (1997) (1147)
Comprehensive human genetic maps: individual and sex-specific variation in recombination. (1998) (1111)
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. (1993) (737)
A genome-wide scan for common alleles affecting risk for autism (2010) (567)
The Pendred syndrome gene encodes a chloride-iodide transport protein (1999) (566)
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways (2011) (559)
A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). (1994) (556)
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. (1999) (548)
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia (2002) (534)
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate (2000) (463)
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) (1998) (462)
Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31 (1993) (451)
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25 (1998) (447)
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy (1999) (436)
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). (2006) (434)
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin. (2004) (393)
Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. (1999) (393)
Primary cilia membrane assembly is initiated by Rab11 and transport protein particle II (TRAPPII) complex-dependent trafficking of Rabin8 to the centrosome (2011) (377)
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. (2001) (359)
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome (2002) (354)
An autosomal genomic screen for autism. (1999) (353)
Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) (346)
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. (2004) (342)
Missense variations in the fibulin 5 gene and age-related macular degeneration. (2004) (324)
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. (1993) (317)
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge (2014) (306)
An autosomal genomic screen for autism. Collaborative linkage study of autism. (1999) (304)
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis (1998) (290)
A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. (2008) (289)
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling (2009) (287)
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly (2010) (283)
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. (2001) (280)
Regulation of gene expression in the mammalian eye and its relevance to eye disease (2006) (277)
Butterfly–shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene (1993) (272)
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4 (2001) (270)
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). (2001) (268)
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations (2001) (265)
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. (2017) (258)
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. (2011) (253)
A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity (2007) (248)
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13 (1992) (237)
Mutations in the CRB1 gene cause Leber congenital amaurosis. (2001) (236)
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. (1994) (233)
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). (2004) (232)
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. (2003) (231)
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. (2005) (221)
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. (2008) (217)
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration (2002) (211)
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration (1998) (211)
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. (2001) (211)
An analysis of allelic variation in the ABCA4 gene. (2001) (210)
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 (2011) (207)
An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium. (2011) (206)
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. (1995) (201)
Evidence supporting WNT2 as an autism susceptibility gene. (2001) (201)
Examination of AVPR1a as an autism susceptibility gene (2004) (199)
Catechol-O-methyl transferase Val158Met gene polymorphism in schizophrenia: working memory, frontal lobe MRI morphology and frontal cerebral blood flow (2005) (197)
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting (2012) (196)
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A (1995) (195)
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. (2005) (194)
Integrated human genome–wide maps constructed using the CEPH reference panel (1994) (194)
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. (1995) (191)
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. (2006) (190)
Incorporating language phenotypes strengthens evidence of linkage to autism. (2001) (188)
Mutations in MKKS cause Bardet-Biedl syndrome (2001) (187)
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma. (2003) (186)
Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non–allelic genetic heterogeneity (1993) (185)
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. (2011) (184)
A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened (2011) (180)
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. (1994) (170)
Mutation analysis of 3 genes in patients with Leber congenital amaurosis. (2000) (166)
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification (1996) (163)
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease (2013) (160)
Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome* (2012) (159)
Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure. (2008) (157)
Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. (2001) (156)
Three autosomal dominant corneal dystrophies map to chromosome 5q (1994) (153)
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). (2000) (153)
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (2000) (152)
Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues. (2001) (147)
Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. (1991) (145)
Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. (1992) (142)
Linkage of posterior polymorphous corneal dystrophy to 20q11. (1995) (140)
Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. (2012) (139)
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes (2012) (136)
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes (2011) (136)
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. (2003) (133)
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 (2014) (133)
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse (2003) (133)
Use of isolated inbred human populations for identification of disease genes. (1998) (132)
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). (1996) (128)
Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. (2011) (128)
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking (2013) (126)
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. (1996) (124)
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). (2003) (123)
Ocular-specific ER stress reduction rescues glaucoma in murine glucocorticoid-induced glaucoma. (2014) (121)
Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma. (1991) (120)
cDNA expressed sequence tags of Trypanosoma brucei rhodesiense provide new insights into the biology of the parasite. (1995) (120)
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension. (2001) (120)
A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes (2010) (119)
CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. (2007) (117)
Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy (2008) (117)
Variations in the myocilin gene in patients with open-angle glaucoma. (2002) (115)
Characterization and comparison of the human and mouse GLC1A glaucoma genes. (1998) (113)
Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome (2015) (113)
Connexin mutations and hearing loss (1998) (113)
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States. (2007) (111)
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. (1995) (110)
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure. (2007) (110)
Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. (1999) (110)
CRISPR-Cas9–based treatment of myocilin-associated glaucoma (2017) (107)
Loss of Bardet–Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia (2008) (107)
Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa. (1992) (106)
Improved set of short-tandem-repeat polymorphisms for screening the human genome. (1997) (105)
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. (2001) (105)
Pax6 3′ deletion results in aniridia, autism and mental retardation (2008) (104)
Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. (1991) (103)
Abnormal development of NG2+PDGFRα+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model (2012) (103)
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase (2010) (101)
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. (2004) (99)
Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. (1997) (99)
Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. (1997) (98)
Mutations in MKKS cause Bardet-Biedl syndrome (2000) (95)
Topical ocular sodium 4-phenylbutyrate rescues glaucoma in a myocilin mouse model of primary open-angle glaucoma. (2012) (95)
Establishing a connection between cilia and Bardet-Biedl Syndrome. (2004) (95)
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. (1996) (95)
BBS mutations modify phenotypic expression of CEP290-related ciliopathies. (2014) (94)
Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. (2000) (93)
Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa. (1991) (93)
Mice defective in Trpm6 show embryonic mortality and neural tube defects. (2009) (92)
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). (2016) (92)
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. (1996) (92)
Pitfalls in homozygosity mapping. (2000) (92)
Low frequency of p53 mutations observed in a diverse collection of primary hepatocellular carcinomas. (1992) (91)
Mutation Detection by PCR, GC-Clamps, and Denaturing Gradient Gel Electrophoresis (1989) (91)
The BBSome Controls Energy Homeostasis by Mediating the Transport of the Leptin Receptor to the Plasma Membrane (2016) (90)
Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. (1995) (90)
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects (2016) (90)
Molecular genetics of age-related macular degeneration. (2001) (89)
Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa. (1992) (89)
Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers. (1995) (86)
Detection of single base changes in DNA: ribonuclease cleavage and denaturing gradient gel electrophoresis. (1988) (86)
Mutation in TDRD9 causes non-obstructive azoospermia in infertile men (2017) (85)
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. (1998) (84)
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. (2006) (84)
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. (2008) (83)
TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice. (2012) (83)
Genome‐wide identification of pseudogenes capable of disease‐causing gene conversion (2006) (82)
Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. (1999) (82)
Evaluation of FOXP2 as an autism susceptibility gene. (2002) (80)
Procollagen II gene mutation in Stickler syndrome. (1992) (78)
Performance of cochlear implant recipients with GJB2-related deafness. (2002) (78)
Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform (2010) (77)
Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. (2013) (77)
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. (1993) (77)
An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. (1996) (77)
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. (1995) (77)
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. (1998) (76)
Genomics and the eye. (2011) (76)
Clinical evidence of decreased olfaction in Bardet–Biedl syndrome caused by a deletion in the BBS4 Gene (2005) (75)
Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa. (1992) (74)
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. (2010) (74)
Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. (1992) (73)
Transplantation of iPSC-derived TM cells rescues glaucoma phenotypes in vivo (2016) (73)
Hyperphagia: Current concepts and future directions proceedings of the 2nd international conference on hyperphagia (2014) (73)
RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. (1994) (72)
Bardet‐Biedl syndrome in Denmark—report of 13 novel sequence variations in six genes (2010) (71)
A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. (1995) (71)
No association between variations in the WDR36 gene and primary open-angle glaucoma. (2007) (70)
Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration (2012) (69)
Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells. (2001) (69)
Cortical enlargement in autism is associated with a functional VNTR in the monoamine oxidase A gene (2008) (69)
Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. (1998) (69)
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). (1995) (67)
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. (1998) (65)
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. (2011) (65)
Allelic Variants of Human Melatonin 1A Receptor in Patients with Familial Adolescent Idiopathic Scoliosis (2003) (65)
Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene (2005) (64)
Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1) (1997) (64)
The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness (2011) (63)
Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome (2005) (63)
A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. (1996) (62)
New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. (1997) (61)
Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. (1996) (61)
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. (2017) (60)
Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR. (2001) (60)
Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. (2007) (59)
Novel approaches to linkage mapping. (1995) (59)
Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects (1999) (58)
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. (1996) (58)
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis. (2003) (56)
The blind leading the obese: the molecular pathophysiology of a human obesity syndrome. (2010) (55)
Restoration of Aqueous Humor Outflow Following Transplantation of iPSC-Derived Trabecular Meshwork Cells in a Transgenic Mouse Model of Glaucoma (2017) (55)
Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension (2011) (54)
Complement factor H polymorphism p.Tyr402His and cuticular Drusen. (2007) (53)
A constrained-likelihood approach to marker-trait association studies. (2005) (52)
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population (2010) (52)
Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa. (2008) (51)
The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23. (1999) (51)
Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins (2015) (51)
Congenital myopathy is caused by mutation of HACD1 (2013) (50)
Transforming growth factor β2 (TGFβ2) signaling plays a key role in glucocorticoid-induced ocular hypertension (2018) (50)
Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head (2001) (50)
Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes. (1996) (50)
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment (2017) (49)
Rat, mouse, and primate models of chronic glaucoma show sustained elevation of extracellular ATP and altered purinergic signaling in the posterior eye. (2015) (49)
Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients. (1992) (48)
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. (2013) (48)
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. (1997) (47)
Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy. (2002) (47)
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction. (2015) (46)
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration (2011) (46)
High-density rat radiation hybrid maps containing over 24,000 SSLPs, genes, and ESTs provide a direct link to the rat genome sequence. (2004) (45)
Genetic Analysis of PITX2 and FOXC1 in Rieger Syndrome Patients From Brazil (2002) (45)
Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet‐Biedl syndrome mutant mice (2009) (45)
Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light (2008) (44)
Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis. (1992) (43)
Automated construction of high-density comparative maps between rat, human, and mouse. (2001) (43)
Deletion of chromosome arm 17p dna sequences in pediatric high‐grade and juvenile pilocytic astrocytomas (1995) (42)
Development of a screening set for new (CAG/CTG)n dynamic mutations. (1996) (42)
Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain. (1999) (41)
Construction and partial characterization of two recombinant cDNA clones for procollagen from chicken cartilage. (1982) (40)
Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. (1994) (40)
Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes. (2020) (39)
A Genome-Wide Association Study for Primary Open Angle Glaucoma and Macular Degeneration Reveals Novel Loci (2013) (39)
The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study. (1994) (38)
Novel copy number variants in children with autism and additional developmental anomalies (2009) (38)
Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10 (2007) (37)
The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. (2002) (37)
Phenotypic expression of Bardet–Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene (2012) (36)
Mutation in the SLC4A11 Gene Associated with Autosomal Recessive Congenital Hereditary Endothelial Dystrophy in a Large Saudi Family (2008) (36)
Identification and mutation analysis of a cochlear-expressed, zinc finger protein gene at the DFNB7/11 and dn hearing-loss loci on human chromosome 9q and mouse chromosome 19. (1998) (35)
Incorporating language phenotypes strengthens evidence of linkage to autism. (2001) (35)
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. (2017) (35)
Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy). (1995) (35)
Generation of a high-density rat EST map. (2001) (34)
ESTprep: Preprocessing CDNA Sequence Reads (2003) (34)
Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12 (2010) (33)
Genome-wide analysis of copy number variants in age-related macular degeneration (2010) (33)
The molecular genetics of Bardet-Biedl syndrome. (2001) (33)
Copy number variations and primary open-angle glaucoma. (2011) (32)
A simple and efficient method for attachment of a 40-base pair, GC-rich sequence to PCR-amplified DNA. (1992) (32)
The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome (2014) (32)
Gene therapy and gene correction: targets, progress, and challenges for treating human diseases (2020) (32)
Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop). (1995) (30)
Light aversion in mice depends on nonimage-forming irradiance detection. (2010) (30)
Microsatellite instability in adenocarcinoma of the prostate. (1994) (30)
Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism (2012) (29)
Inactivation of Bardet-Biedl syndrome genes causes kidney defects. (2011) (28)
Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. (1994) (27)
Ectopic Expression of Human BBS4 Can Rescue Bardet-Biedl Syndrome Phenotypes in Bbs4 Null Mice (2013) (27)
Use of Isolated Populations in the Study of a Human Obesity Syndrome, the Bardet-Biedl Syndrome (2004) (27)
Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP (2019) (27)
The BBSome in POMC and AgRP Neurons Is Necessary for Body Weight Regulation and Sorting of Metabolic Receptors (2019) (27)
Screening for Mutations of Axenfeld-Rieger Syndrome Caused by FOXC1 Gene in Japanese Patients (2001) (26)
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene. (1997) (26)
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 (2006) (25)
Short tandem repeat polymorphic markers for the rat genome from marker-selected libraries (1998) (25)
Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene. (1996) (25)
ATF4 leads to glaucoma by promoting protein synthesis and ER client protein load (2020) (25)
Pooled library tissue tags for EST-based gene discovery (2002) (24)
Case of Stargardt disease caused by uniparental isodisomy. (2006) (24)
Familial cavitary optic disk anomalies: identification of a novel genetic locus. (2007) (24)
Linkage analysis of autosomal dominant atrio ventricular canal defects: exclusion of chromosome 21 (1994) (24)
Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. (2000) (24)
Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus (2004) (24)
High-throughput gene discovery in the rat. (2004) (24)
A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation. (2002) (24)
Ciliopathy Is Differentially Distributed in the Brain of a Bardet-Biedl Syndrome Mouse Model (2014) (23)
Evaluation of GPR50, hMel-1B, and ROR-&agr; Melatonin-related Receptors and the Etiology of Adolescent Idiopathic Scoliosis (2010) (23)
X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR. (1997) (23)
Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function (2015) (22)
A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis (2016) (22)
1274 full-open reading frames of transcripts expressed in the developing mouse nervous system. (2004) (21)
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia (2019) (21)
Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin (2021) (21)
Catechol-O-methyl transferase Val158Met gene polymorphism in schizophrenia: working memory, frontal lobe MRI morphology and frontal cerebral blood flow (2005) (21)
Chromosomal assignment of 2900 tri- and tetranucleotide repeat markers using NIGMS somatic cell hybrid panel 2. (1996) (21)
The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. (1999) (20)
Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse (2005) (20)
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet–Biedl syndrome patients (2008) (20)
Evaluation of Embryonic and Perinatal Myosin Gene Mutations and the Etiology of Congenital Idiopathic Clubfoot (2010) (20)
Evaluation of CAND2 and WNT7a as Candidate Genes for Congenital Idiopathic Clubfoot (2009) (19)
Lowering The Burden of Hereditary Diseases in a Traditional, Inbred Community: Ethical Aspects of Genetic Research and Its Application (1998) (19)
Parallel creation of non-redundant gene indices from partial mRNA transcripts (2002) (19)
HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease. (2002) (19)
26 – IDENTIFYING DNA POLYMORPHISMS BY DENATURING GRADIENT GEL ELECTROPHORESIS (1990) (18)
Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci. (1999) (18)
Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly. (1999) (18)
Human genetic map. Genome maps V. Wall chart. (1994) (18)
Mitochondrial Variant G4132A is Associated with Familial Non-Arteritic Anterior Ischemic Optic Neuropathy in One Large Pedigree (2007) (17)
A high-density microsatellite map of the ataxia-telangiectasia locus (1995) (17)
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis (2020) (17)
Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1). (1999) (17)
A case of autism and uniparental disomy of chromosome 1 (2005) (16)
Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1) (1996) (16)
Systematic Screening for Subtelomeric Anomalies in a Clinical Sample of Autism (2007) (16)
Copy number variations on chromosome 12 q 14 in patients with normal tension glaucoma (2011) (16)
Absence of BBSome function leads to astrocyte reactivity in the brain (2019) (16)
Characterization of Alu repeats that are associated with trinucleotide and tetranucleotide repeat microsatellites. (1997) (15)
A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan (1999) (15)
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein (2017) (15)
Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity (2010) (14)
Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. (1997) (14)
Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes. (2010) (14)
Development of a Molecularly Stable Gene Therapy Vector for the Treatment of RPGR-associated X-linked Retinitis Pigmentosa. (2019) (14)
Molecular genetics of glaucoma: current status. (1996) (13)
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms. (2014) (13)
Disulfiram causes selective hypoxic cancer cell toxicity and radio-chemo-sensitization via redox cycling of copper. (2017) (13)
Osteoarthritis-Like Changes in Bardet–Biedl Syndrome Mutant Ciliopathy Mice (Bbs1M390R/M390R): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation (2018) (13)
Mice defective in Trpm 6 show embryonic mortality and neural tube defects (2009) (12)
Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms (2022) (12)
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma. (2015) (12)
A denaturing gradient gel electrophoresis assay for sensitive detection of p53 mutations (1993) (11)
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome. (2021) (10)
Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects. (1995) (10)
The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina (2020) (10)
Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders. (1997) (10)
Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes. (2020) (10)
Prioritizing regions of candidate genes for efficient mutation screening (2006) (10)
Allelic Variation in the VMD 2 Gene in Best Disease and Age-Related Macular Degeneration (2000) (10)
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. (1993) (9)
Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis (2001) (9)
Copy number of the chicken type II procollagen gene. (1985) (9)
A comprehensive nonredundant expressed sequence tag collection for the developing Rattus norvegicus heart. (2004) (9)
Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures. (2017) (9)
Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21. (2000) (8)
Impaired energy metabolism as an initial step in the mechanism for 6-aminonicotinamide-induced limb malformation. (1980) (8)
Retinal ciliopathies through the lens of Bardet-Biedl Syndrome: Past, present and future (2021) (8)
Neonatal hemochromatosis: genetic counseling based on retrospective pathologic diagnosis. (1992) (8)
Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model (2018) (8)
Chapter 16 – Molecular Genetics of Retinal Disease (2006) (8)
Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics (2020) (7)
The vision of Typhoon Lengkieki (2000) (7)
Autosomal dominant macular dystrophy in a large Canadian family. (2003) (7)
Focal microsatellite mutations in relatives with prostatic adenocarcinoma. (1996) (7)
Posterior probability of linkage analysis of autism dataset identifies linkage to chromosome 16 (2008) (7)
A user-friendly Hypercard interface for human linkage analysis (1993) (6)
Usher Syndrome in the Samaritans: Strengths and Limitations of Using Inbred Isolated Populations to Identify Genes Causing Recessive Disorders (1997) (6)
Identifying Candidate Disease Genes with High-Performance Computing (2003) (6)
2q24 deletions: Further characterization of clinical findings and their relation to the SCN cluster (2012) (6)
UvA-DARE ( Digital Academic Repository ) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus ( BBS 1 ) (2003) (6)
Disruption of Dopamine Receptor 1 Localization to Primary Cilia Impairs Signaling in Striatal Neurons (2022) (4)
Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR. (1993) (4)
Recommendations of the American Academy of Ophthalmology Task Force on Genetic Testing (2012) (4)
Elevation of IOP triggers responses from cytokines IL-6 and IL-1β; involvement of both optic nerve head astrocytes and retinal ganglion cells (2013) (4)
Genetic Analysis and Phenotypic Staging of Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (2011) (4)
A mouse model of Bardet-Biedl Syndrome has impaired fear memory, which is rescued by lithium treatment (2020) (4)
BARDET-BIEDL SYNDROME Phenotypic Characteristics Associated with the BBS4 Locus (1999) (4)
Digenic inheritance of a ROM1 gene mutation with a peripherin/RDS or rhodopsin mutation in families with retinitis pigmentosa (1999) (4)
The molecular genetics of eye diseases. (2017) (4)
Gene therapy rescues olfactory perception in a clinically relevant ciliopathy model of Bardet–Biedl syndrome (2021) (3)
Photoreceptor function in patients with heterozygous peripherin/RDS gene mutations (1995) (3)
The Molecular Genetic Approach to Macular Degeneration (1994) (3)
Identification of Rhodopsin Gene Mutations Using GC-Clamped Denaturing Gradient Gel Electrophoresis (1993) (3)
Exome-based investigation of the genetic basis of human pigmentary glaucoma (2021) (3)
Corrigendum: Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse (2005) (3)
GenoMap: A Distributed System for Unifying Genotyping and Genetic Linkage Analysis (1998) (3)
Overcoming the overexpression toxicity of gene replacement therapy for Bardet Biedl Syndrome type 1 (2014) (2)
Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model (2021) (2)
Sequencing and disease variation detection tools and techniques (2011) (2)
Transcript Annotation Prioritization and Screening System (TRApss) for Mutation Screening (2007) (2)
Topical Ocular Delivery of Nanocarriers: A Feasible Choice for Glaucoma Management. (2020) (2)
Medical genetics: An illustrated outline (1990) (2)
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge (2014) (2)
Counterpoint regarding an alternative hypothesis for why exposure to static magnetic and electric fields treat type 2 diabetes. (2021) (2)
Night Blindness in Sorsby??s Fundus Dystrophy Reversed by Vitamin (1998) (2)
120 PREMATURE OSTEOARTHRITIS IN THE TEMPOROMANDIBULAR AND KNEE JOINTS OF BARDET-BIEDLE SYNDROME MICE (2011) (1)
Missense variations in the fibulin 5 gene and age-related macular degeneration (2004) (1)
CARTILAGE ABNORMALITIES ASSOCIATED WITH CHONDROCYTIC PRIMARY CILIA DEFECTS (2011) (1)
Abstract P459: The BBSome Mediate the Sorting of the Serotonin 5-HT2C Receptor to the Plasma Membrane in POMC Neurons (2017) (1)
MOLECULAR-GENETIC MAPPING OF 13 MARKERS FROM CHROMOSOME-11Q13 IN 33 FAMILIES WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 (1993) (1)
Increased Expression of sFRP-1 in Glaucomatous Trabecular Meshwork and Presence of a Functional WNT Signaling Pathway that Regulates IOP (2002) (1)
Photoreceptors show age-dependent ability to regain function after restoration of target gene expression in mouse models of Bardet Biedl Syndrome (2017) (1)
Linkage of a Large Pattern Dystrophy Pedigree to Chromosome 6p21 (2003) (1)
Predictive DNA testing for glaucoma with the GLC1A gene: experience with a large Australian family (1998) (1)
Variations in the TCF8 Gene Are Associated With a Posterior Polymorphous Corneal Dystrophy Phenotype (2007) (1)
Gene therapy and gene correction: targets, progress, and challenges for treating human diseases (2020) (1)
Analysis of Correlated Gene Expression in a Large Cohort of Rats Assists the Discovery of Two New Genes Involved in Bardet Biedl Syndrome (BBS) (2006) (1)
High resolution genetic maps incorporating multiple classes of short tandem repeat polymorphisms (1994) (1)
Knockout of Bbs10 results in lack of cone electrical function and progressive retinal degeneration of rods and cones (2022) (1)
Identification of a Novel OPA1 Mutation in a Large Family With a Severe Dominant Optic Atrophy Phenotype (2002) (1)
Progressive retinal degeneration of rods and cones in a Bardet-Biedl syndrome type 10 mouse model (2022) (1)
Homozygosity Mapping Using Pooled DNA (1997) (0)
CRISPR-Cas9 Mediated Genome Editing of Myocilin in Trabecular Meshwork Cells (2015) (0)
Sustained rise in extracellular ATP in retina of transgenic Tg-MYOCY437H mice (2014) (0)
Examination of sequencing data in three Israeli families with Keratoconus (2016) (0)
The role of chondrocyte primary cilia in osteoarthritis (2016) (0)
CPS: A Collaborative Phenotype System (2009) (0)
CRISPR-based treatment of MYOC-associated glaucoma (2016) (0)
Myocilin mt1 Promoter Polymorphisms in Adult-onset Primary Open Angle Glaucoma (2002) (0)
Genetic and pharmacological inhibition of ER stress-induced ATF4/CHOP pro-death pathway prevents myocilin misfolding and rescues mouse models of glaucoma (2016) (0)
ABCA4 Sequence Variations in Patients with Cone-Rod Dystrophy (2002) (0)
Variants in the WDR36 Gene Are Not Associated With Open Angle Glaucoma in a Large Cohort of Patients From Iowa (2006) (0)
Characterization of a Large Family with Adult-Onset Primary Open-Angle Glaucoma Caused by a Mutation in the GLC1A Gene (2000) (0)
Reply to buddles et al. (2000) (0)
Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model (2022) (0)
Dominant Mutation Induced by Chemical Mutagenesis Affecting Mouse ERG and Fundus (2003) (0)
Novel FRMD7 Mutation Is Associated With X-Linked Idiopathic Congenital Nystagmus in a Large Pedigree From Iowa (2007) (0)
Resolving genotype-phenotype mismatches in whole-exome based genetic testing. (2015) (0)
ENU–Induced nob4 Mutant Mouse Available to the Vision Research Community (2006) (0)
UvA-DARE ( Digital Academic Repository ) The human achaete-scute homologue 2 ( ASCL 2 , HASH 2 ) maps to chromosome 11 p 15 . 5 , close to IGF 2 and is expressed in extravillus (1997) (0)
Primary Cilia and Extracellular Matrix Interactions in Trabecular Meshwork Cells (2018) (0)
Development of a Collaborative Ocular Phenotype Database (2007) (0)
Identification of a Novel Genetic Locus for Familial Cavitary Optic Disc Anomalies (2007) (0)
A Strategy for Efficient Molecular Diagnosis of Genetically Heterogeneous Autosomal Recessive Diseases (2007) (0)
The molecular pathophysiology of the human obesity disorder, Bardet Biedl syndrome (BBS) (2011) (0)
The role of ER stress in the trabecular meshwork of human glaucoma and mouse models of glaucoma (2014) (0)
Evaluation of an efficient approach for identifying genetic disease loci (1994) (0)
Bardet‐Biedl syndrome 3 gene in POMC neurons is required for glucose homeostasis (2021) (0)
Identification Of Regulatory Elements In The Mammalian Eye (2006) (0)
Bbs1 gene deletion from the leptin receptor‐containing neurons causes obesity (1126.10) (2014) (0)
A genome screen of 76 families ascertained through two autism probands (1998) (0)
Response to: An alternative hypothesis for why exposure to static magnetic and electric fields treats type 2 diabetes. (2021) (0)
Retinal Characterization of a Mouse Homozygous for the Mutation That is the Most Common Cause of Bardet–Biedl Syndrome in Man: Met390Arg in BBS1 (2006) (0)
Increasing body weight correlates with loss of ERG in mice with Bardet Biedl Syndrome (2013) (0)
Determination of the optimal time window for gene replacement therapies for blindness using an inducible rescue mouse model of Bardet-Biedl Syndrome (2018) (0)
Exposure to Static Magnetic and Electric Fields Treats Type 2 Diabetes. (2022) (0)
Subretinal gene therapy in Bbs1 mice (2012) (0)
Characterization of Ocular Phenotype in Mouse Models of Bardet Biedl Syndrome and Feasibility Study for Subretinal Gene Therapy (2010) (0)
An open source and convenient method for the wide-spread testing of COVID-19 using deep throat sputum samples (2022) (0)
Interaction between CEP290 and BBSome genes is required for mediating cilia function in retina (2013) (0)
Effect of Primary Cilia on Trabecular Meshwork Cell Function (2016) (0)
The role of COMT V158M polymorphism on WCST performance and frontal lobe morphology in schizophrenia (2003) (0)
The BBSome regulates mitochondria dynamics and function (2022) (0)
Gene expression during chick limb cartilage differentiation. (1982) (0)
A CEP290 N-terminal Protein Fragment Rescues A Zebrafish Model Of CEP290 Leber’s Congenital Amaurosis (2011) (0)
Analysis of 200 Human Exomes for Improved Mutation Detection Specificity (2011) (0)
Gene Expression Analysis of Photoreceptor Cell Loss in a Mouse Model of Bardet Biedl Syndrome 4 (Bbs4) (2005) (0)
The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina (2020) (0)
Functional Characterization of the Bardet-Biedl Syndrome1 M390R Mutation in Zebrafish (2015) (0)
Chemically Induced Mutations in the Mouse that Affect the Fundus and Electroretinogram (2003) (0)
Mutation screening of muscle development genes in patients with idiopathic clubfoot (2012) (0)
CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays (2015) (0)
Inferring Pathogenicity to Prioritize Candidate Disease–Causing Sequence Variations (2004) (0)
The relationship of reduced levels of ATP to inhibited chondrogenesis in the production of limb deformity induced by 6-aminonicotinamide (1977) (0)
ABCA4 Sequence Variations in Somali and North American Populations (2006) (0)
Translational Subretinal Gene Therapy of Mice With Bardet-Biedl Syndrome Type 1 (2013) (0)
Author reply: To PMID 22944025. (2013) (0)
Light Reduction, Neuroprotection, And Subretinal Gene Therapy In A Mouse Model Of Bardet Biedl Syndrome (2011) (0)
Abstract MP55: Bardet-biedl Syndrome 3 Gene In Pomc Neurons Regulates Glucose Homeostasis And Baroreflex Sensitivity (2021) (0)
Characterization of gene expression patterns in the developing retina of normal and NR2E3 mutant mice (2004) (0)
Automated Sequence Analysis Pipeline (ASAP) for Genetic Testing (2009) (0)
Is C8orf37 the eighteenth BBS gene? A case report (2014) (0)
Exome-based investigation of the genetic basis of human pigmentary glaucoma (2021) (0)
Pathophysiological mechanisms of obesity and hypertension in mouse models of Bardet‐Biedl syndrome (2006) (0)
Abstract 14: Central Nervous System Deletion of the Bbs1 Gene Causes Obesity and Hypertension in Mice (2013) (0)
Multigenic Heteroygous Mutations in Bbs1/bbs7 Result in Pathogenic Phenotypes in Mice (2008) (0)
Bardet‐Biedl Sydrome (BBS) proteins play a role in Centrosome Amplification (2010) (0)
Genomic Fragment Capture and Pyrophosphate Sequencing for Retinitis Pigmentosa Gene Discovery (2009) (0)
Mapping and Characterization of Noerg–1 Mutation in Mouse (2004) (0)
Identification of the gene causing 1Q-linked juvenile onset open angle glaucoma and evidence for its involvement in adult primary open angle glaucoma (1997) (0)
Molecular Cloning of the Noerg–1 Mutation in Mouse Shows Mutagenesis Can Generate Valid Disease Models (2005) (0)
Abstract 440: Activation of the Brain Renin-angiotensin System is Critically Involved in the Hypertension Associated With Bbs (2013) (0)
Post-receptoral rod and cone abnormalities in retinitis pigmentosa caused by rhodopsin gene mutations (1996) (0)
Association Study of Pigment Dispersion Syndrome (2009) (0)
Abstract 016: Bbs1 Gene Deletion From The Leptin Receptor Neurons Causes Obesity And Hypertension In Mice (2014) (0)
Bardet Biedl syndrome genes are required for autonomic control of the circulation (2012) (0)
Genome–Wide Genetic Analysis of Gene Expression Variation in the Mammalian Eye (2005) (0)
Whole genome sequencing to find missing alleles in patients with retinal disease. (2017) (0)
Novel Mutation in the Retinol Dehydrogenase 12 (rdh12) Gene Is Associated With Retinitis Pigmentosa in a Large Autosomal Dominant Pedigree From Iowa (2008) (0)
A 30-Mile-per-Hour Headwind. (2018) (0)
Gene Discovery in the Human Visual System (2005) (0)
Absence of BBSome function leads to astrocyte reactivity in the brain (2019) (0)
Identification of a Novel Glaucoma Locus (2010) (0)
Guest Editor Introduction for the Special Section on Commercial Applications for High-Performance Computing (2004) (0)
Abstract 083: Metabolic and Cardiovascular Effects of BBS1 Ablation From the POMC-containing Neurons (2015) (0)
A Chemical Chaperone Rescues Glaucoma By Reducing ER Stress In A Novel Murine Model Of Primary Open Angle Glaucoma (2011) (0)
Correlation of Gene Expression in Retinitis Pigmentosa and Bardet-Bieldl Syndrome (2007) (0)
Inhibition of Transforming Growth Factor-β2 Signaling Prevents ECM Remodeling, Endoplasmic Reticulum Stress and Ocular Hypertension in Steroid-induced Glaucoma (2017) (0)
Exome sequencing analysis in three Bedouin families with Keratoconus (2017) (0)
Different Bipolar Cell Input Pathways for Negative Masking and the Pupil Light Reflex in Mice (2010) (0)
Clinicopathologic Analysis of the Retina of a Young Patient with Leber Congenital Amaurosis (2002) (0)
Bbs1 gene is required for wound healing (216.5) (2014) (0)

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