PubRank

V C Sheffield

Author PubWeight™ 214.14‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 1998 19.35
2 Identification of a gene that causes primary open angle glaucoma. Science 1997 8.14
3 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 2000 4.81
4 Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 1997 4.43
5 A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science 1994 4.02
6 A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet 1999 3.32
7 The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998 3.24
8 Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999 3.24
9 Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) N Engl J Med 1998 3.18
10 Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet 1994 3.06
11 Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet 2001 3.06
12 Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am J Hum Genet 1995 3.02
13 Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nat Genet 2001 2.77
14 Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet 2001 2.56
15 Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 1999 2.56
16 De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet 1998 2.53
17 Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 1995 2.50
18 Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet 2000 2.45
19 Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome. Am J Hum Genet 1999 2.42
20 Mutations in the CRB1 gene cause Leber congenital amaurosis. Arch Ophthalmol 2001 2.38
21 The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 1999 2.32
22 Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 1993 2.24
23 Pitfalls in homozygosity mapping. Am J Hum Genet 2000 2.12
24 Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nat Genet 1993 2.05
25 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. Arch Ophthalmol 1993 2.05
26 Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. Arch Ophthalmol 1994 2.05
27 Improved set of short-tandem-repeat polymorphisms for screening the human genome. Am J Hum Genet 1997 2.03
28 Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. Hum Mol Genet 1995 1.99
29 An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci 2001 1.90
30 Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol 2000 1.89
31 Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci 2000 1.84
32 Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet 1998 1.80
33 Examination of AVPR1a as an autism susceptibility gene. Mol Psychiatry 2004 1.80
34 Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet 1992 1.77
35 Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat 2001 1.77
36 Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21. Hum Genet 1994 1.72
37 Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet 1996 1.69
38 Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch Ophthalmol 2001 1.68
39 Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet 2001 1.67
40 Catechol-O-methyl transferase Val158Met gene polymorphism in schizophrenia: working memory, frontal lobe MRI morphology and frontal cerebral blood flow. Mol Psychiatry 2005 1.61
41 Molecular genetics of age-related macular degeneration. Hum Mol Genet 2001 1.55
42 Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet 1996 1.54
43 A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet 2001 1.50
44 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. Am J Hum Genet 1998 1.50
45 Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nat Genet 1995 1.50
46 Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet 1995 1.49
47 Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. Am J Med Genet 1995 1.43
48 Construction and partial characterization of two recombinant cDNA clones for procollagen from chicken cartilage. Nucleic Acids Res 1982 1.35
49 Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues. Invest Ophthalmol Vis Sci 2001 1.33
50 Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1) Arch Ophthalmol 1997 1.32
51 Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain. Brain Res Mol Brain Res 1999 1.31
52 Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet 2000 1.30
53 A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 1996 1.27
54 Automated construction of high-density comparative maps between rat, human, and mouse. Genome Res 2001 1.24
55 Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet 1995 1.24
56 A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. Am J Hum Genet 1998 1.24
57 Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma. Proc Natl Acad Sci U S A 1991 1.23
58 Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. Hum Mol Genet 1992 1.22
59 Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects. Dev Dyn 1999 1.22
60 Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss. Hum Mutat 1998 1.21
61 Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. Hum Mol Genet 1998 1.19
62 Pax6 3' deletion results in aniridia, autism and mental retardation. Hum Genet 2008 1.18
63 Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics 2001 1.17
64 Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension. Invest Ophthalmol Vis Sci 2001 1.16
65 Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet 2001 1.16
66 Chromosomal assignment of 2900 tri- and tetranucleotide repeat markers using NIGMS somatic cell hybrid panel 2. Genomics 1996 1.16
67 Generation of a high-density rat EST map. Genome Res 2001 1.15
68 The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study. Arch Ophthalmol 1994 1.14
69 Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa. Arch Ophthalmol 1991 1.14
70 Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa. Arch Ophthalmol 1992 1.11
71 Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet 1997 1.11
72 Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Res 1998 1.11
73 Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Arch Ophthalmol 1996 1.11
74 Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR. Mol Vis 2001 1.10
75 Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene. Invest Ophthalmol Vis Sci 1996 1.10
76 An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am J Hum Genet 1996 1.10
77 cDNA expressed sequence tags of Trypanosoma brucei rhodesiense provide new insights into the biology of the parasite. Mol Biochem Parasitol 1995 1.05
78 Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization. Invest Ophthalmol Vis Sci 2000 1.05
79 Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells. Invest Ophthalmol Vis Sci 2001 1.03
80 A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. Ophthalmology 1995 1.02
81 Low frequency of p53 mutations observed in a diverse collection of primary hepatocellular carcinomas. Proc Natl Acad Sci U S A 1992 1.02
82 Procollagen II gene mutation in Stickler syndrome. Arch Ophthalmol 1992 1.02
83 The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map. Genome Res 1999 1.01
84 Pooled library tissue tags for EST-based gene discovery. Bioinformatics 2002 1.01
85 New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p. Am J Med Genet 1997 1.00
86 Involvement of multiple chromosome 17p loci in medulloblastoma tumorigenesis. Am J Hum Genet 1992 0.99
87 Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. Ophthalmology 1991 0.99
88 Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa. Arch Ophthalmol 1992 0.99
89 Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene. Ophthalmic Genet 1996 0.98
90 Connexin mutations and hearing loss. Nature 1998 0.98
91 Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers. Hum Mol Genet 1995 0.98
92 Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint. Hum Mol Genet 1997 0.97
93 Refining the DFNB7-DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2. Gene 2000 0.95
94 A high-density microsatellite map of the ataxia-telangiectasia locus. Hum Genet 1995 0.95
95 Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes. Genome Res 1996 0.95
96 A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. Hum Mol Genet 1996 0.94
97 Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Ophthalmology 1994 0.92
98 Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients. J Glaucoma 2001 0.92
99 Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Am J Hum Genet 1998 0.91
100 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. J Clin Invest 1992 0.91
101 Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1) Ophthalmic Genet 1997 0.91
102 Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head. FASEB J 2001 0.89
103 Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop). Am J Ophthalmol 1995 0.89
104 The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23. Genomics 1999 0.89
105 Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. J Clin Endocrinol Metab 1999 0.89
106 Human genetic map. Genome maps V. Wall chart. Science 1994 0.88
107 Novel copy number variants in children with autism and additional developmental anomalies. J Neurodev Disord 2009 0.88
108 A user-friendly Hypercard interface for human linkage analysis. Comput Appl Biosci 1993 0.88
109 Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders. Am J Phys Anthropol 1997 0.88
110 Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. Am J Hum Genet 1994 0.87
111 Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa. Arch Ophthalmol 1992 0.86
112 A denaturing gradient gel electrophoresis assay for sensitive detection of p53 mutations. Hum Genet 1993 0.86
113 X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR. Arch Ophthalmol 1997 0.86
114 A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. Hum Mol Genet 1993 0.85
115 Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy). Hum Mol Genet 1995 0.84
116 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. Hum Mol Genet 1997 0.84
117 Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis. Prenat Diagn 2001 0.84
118 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. Gene 1998 0.84
119 RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function. Invest Ophthalmol Vis Sci 1994 0.83
120 Preferential rod and cone photoreceptor abnormalities in heterozygotes with point mutations in the RDS gene. Exp Eye Res 1996 0.82
121 Development of a screening set for new (CAG/CTG)n dynamic mutations. Genomics 1996 0.81
122 Deletion of chromosome arm 17p DNA sequences in pediatric high-grade and juvenile pilocytic astrocytomas. Genes Chromosomes Cancer 1995 0.81
123 Microsatellite instability in adenocarcinoma of the prostate. Am J Pathol 1995 0.80
124 Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1). Gene 1999 0.80
125 The vision of typhoon lengkieki. Nat Med 2000 0.79
126 Short tandem repeat polymorphic markers for the rat genome from marker-selected libraries. Mamm Genome 1998 0.79
127 Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci. Ophthalmic Genet 1999 0.79
128 A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. Hum Mol Genet 1993 0.79
129 Copy number of the chicken type II procollagen gene. Coll Relat Res 1985 0.78
130 Impaired energy metabolism as an initial step in the mechanism for 6-aminonicotinamide-induced limb malformation. J Embryol Exp Morphol 1980 0.77
131 Nonsyndromic congenital retinal nonattachment gene maps to human chromosome band 10q21. Am J Med Genet 2000 0.77
132 Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects. Circulation 1995 0.77
133 Construction of P1-derived artificial chromosome and yeast artificial chromosome contigs encompassing the DFNB7 and DFNB11 region of chromosome 9q13-21. Genome Res 1997 0.76
134 Molecular genetics of glaucoma: current status. J Glaucoma 1996 0.76
135 Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly. Arch Ophthalmol 1999 0.75
136 Focal microsatellite mutations in relatives with prostatic adenocarcinoma. Anticancer Res 1997 0.75
137 Single base polymorphism in the DAG1 gene detected by DGGE and mismatch PCR. Hum Mol Genet 1993 0.75
138 Gene expression during chick limb cartilage differentiation. Prog Clin Biol Res 1982 0.75
139 DFNB11. Adv Otorhinolaryngol 2000 0.75