PubRank

A T Moore

Author PubWeight™ 144.01‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Clinical features and natural history of von Hippel-Lindau disease. Q J Med 1990 4.71
2 The genetics of childhood cataract. J Med Genet 2000 3.99
3 A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell 2001 3.07
4 A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet 1993 2.97
5 Smoking and age related macular degeneration: the number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal neovascularisation. Br J Ophthalmol 2006 2.67
6 The effect of chemical treatments of albumin and orosomucoid on rate of clearance from the rat bloodstream and rate of pinocytic capture of rat yolk sac cultured in vitro. Biochem J 1977 2.36
7 X linked retinoschisis. Br J Ophthalmol 1995 2.13
8 PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. Nat Genet 2001 2.05
9 Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol 1998 1.93
10 Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum Mol Genet 1998 1.84
11 The cone dysfunction syndromes. Br J Ophthalmol 2004 1.76
12 Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet 1996 1.76
13 Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol 1996 1.73
14 Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet 1994 1.71
15 Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics 1997 1.70
16 A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. J Med Genet 2006 1.68
17 Extracapsular cataract surgery with lens implantation in diabetics with and without proliferative retinopathy. Br J Ophthalmol 1991 1.67
18 Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol 1999 1.64
19 A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum Mol Genet 1997 1.57
20 Lens biology: development and human cataractogenesis. Trends Genet 1999 1.55
21 A locus for autosomal dominant anterior polar cataract on chromosome 17p. Hum Mol Genet 1996 1.51
22 Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet 2002 1.44
23 Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet 2004 1.44
24 Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet 1994 1.40
25 Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. Br J Ophthalmol 2007 1.40
26 A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet 2007 1.35
27 Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. J Med Genet 1998 1.33
28 Genetic counselling in X-linked ocular albinism: clinical features of the carrier state. Eye (Lond) 1992 1.32
29 Clinical features of affected males with X linked ocular albinism. Br J Ophthalmol 1993 1.30
30 Histiocytosis X: an ophthalmological review. Br J Ophthalmol 1985 1.30
31 X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet 2005 1.30
32 Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. Hum Mol Genet 2004 1.29
33 Fibrous dysplasia of the orbit in childhood. Clinical features and management. Ophthalmology 1985 1.26
34 Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. Arch Ophthalmol 2001 1.24
35 Genetic mapping in Methylophilus methylotrophus AS1. J Gen Microbiol 1983 1.22
36 Preschool vision screening: outcome of children referred to the hospital eye service. Br J Ophthalmol 1996 1.21
37 Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. Ophthalmology 2000 1.20
38 Infantile presentation of X linked retinoschisis. Br J Ophthalmol 1995 1.20
39 Identification of the gene for Nance-Horan syndrome (NHS). J Med Genet 2004 1.17
40 Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals. Eye (Lond) 2005 1.16
41 The cone dystrophies. Eye (Lond) 1998 1.15
42 Risk factors for the spread of AIDS in rural Africa: evidence from a comparative seroepidemiological survey of AIDS, hepatitis B and syphilis in southwestern Uganda. AIDS 1988 1.15
43 The genetics of inherited macular dystrophies. J Med Genet 2003 1.14
44 Cone and cone-rod dystrophies. J Med Genet 1992 1.13
45 A detailed phenotypic study of "cone dystrophy with supernormal rod ERG". Br J Ophthalmol 2005 1.13
46 Bimodal expressivity in dominant retinitis pigmentosa genetically linked to chromosome 19q. Br J Ophthalmol 1995 1.12
47 Genetic susceptibility to age related macular degeneration. J Med Genet 2000 1.11
48 Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9). Am J Hum Genet 1994 1.11
49 Age related macular degeneration and sun exposure, iris colour, and skin sensitivity to sunlight. Br J Ophthalmol 2006 1.11
50 A locus for isolated cataract on human Xp. J Med Genet 2002 1.11
51 Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. J Med Genet 2001 1.11
52 Genotype-phenotype correlation in British families with X linked congenital stationary night blindness. Br J Ophthalmol 2003 1.08
53 An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. J Med Genet 2004 1.07
54 An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. Am J Hum Genet 1998 1.07
55 RP1 protein truncating mutations predominate at the RP1 adRP locus. Invest Ophthalmol Vis Sci 2000 1.04
56 Genetic mapping of X linked ocular albinism: linkage analysis in British families. J Med Genet 1992 1.04
57 Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q. Br J Ophthalmol 1998 1.03
58 A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. Br J Ophthalmol 2005 1.02
59 ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet 2008 1.00
60 Cognitive functioning in humans with mutations of the PAX6 gene. Neurology 2004 1.00
61 Who should manage primary retinal detachments? Eye (Lond) 2000 1.00
62 A review of primary hereditary optic neuropathies. J Inherit Metab Dis 2003 0.98
63 Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene. Br J Ophthalmol 2005 0.97
64 Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. Am J Hum Genet 1998 0.97
65 Choroidal neovascularisation in children. Br J Ophthalmol 2008 0.96
66 Lisch nodules in neurofibromatosis type 2. Case report. Arch Ophthalmol 1989 0.95
67 Cataract surgery and primary intraocular lens implantation in children < or = 2 years old in the UK and Ireland: finding of national surveys. Br J Ophthalmol 2009 0.95
68 Eye injuries from car battery explosions. Br J Ophthalmol 1982 0.94
69 Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. Hum Mol Genet 1995 0.94
70 An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis. Eye (Lond) 2008 0.93
71 Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet 1997 0.93
72 Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred. Genomics 1993 0.93
73 Oligocone trichromacy: a rare and unusual cone dysfunction syndrome. Br J Ophthalmol 2004 0.93
74 The genetics of strabismus. J Med Genet 2004 0.92
75 Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6. Br J Ophthalmol 2006 0.91
76 Should performance indicators in general practice relate to whole practices or to individual doctors? J R Coll Gen Pract 1989 0.91
77 A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis. Br J Ophthalmol 1984 0.90
78 Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. J Med Genet 1997 0.90
79 Clinical features and molecular genetics of Von Hippel-Lindau disease. Ophthalmic Genet 1995 0.90
80 Understanding the molecular genetics of congenital cataract may have wider implications for age related cataract. Br J Ophthalmol 2004 0.90
81 Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter. Doc Ophthalmol 1999 0.89
82 Norrie disease and peripheral venous insufficiency. Br J Ophthalmol 2004 0.89
83 Cost-benefit evaluation of body computed tomography. Health Trends 1987 0.88
84 Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2). Br J Ophthalmol 2003 0.86
85 Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression. Br J Ophthalmol 1995 0.85
86 Bilateral macular dysplasia ('colobomata') and congenital retinal dystrophy. Br J Ophthalmol 1985 0.85
87 Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome? Ophthalmic Genet 1996 0.85
88 Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study. J Med Genet 1993 0.84
89 Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. J Med Genet 1993 0.84
90 Tenosynovitis of the superior oblique muscle (Brown syndrome) associated with juvenile rheumatoid arthritis. J Pediatr 1985 0.83
91 A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. Br J Ophthalmol 2003 0.83
92 MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy. Neuroradiology 2000 0.83
93 Bilateral acquired inflammatory Brown's syndrome. J Pediatr Ophthalmol Strabismus 1985 0.83
94 Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene. Eye (Lond) 2011 0.82
95 Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence. Klin Monbl Augenheilkd 2004 0.81
96 Ocular enlargement following infantile corneal opacification. Eye (Lond) 1990 0.81
97 Risk of multisystem disease in isolated ocular angioma (haemangioblastoma) J Med Genet 2000 0.81
98 Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees. Hum Genet 1998 0.81
99 Structure of Lisch nodules in neurofibromatosis type 1. Ophthalmic Paediatr Genet 1991 0.80
100 Lipaemia retinalis in a premature infant with type I hyperlipoproteinaemia. Eye (Lond) 1997 0.80
101 Von Hippel-Lindau disease. Br J Ophthalmol 1992 0.80
102 The dark choroid in posterior retinal dystrophies. Ophthalmology 1987 0.80
103 Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss. Br J Ophthalmol 2003 0.80
104 Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene. Br J Ophthalmol 2005 0.80
105 Polypeptides. XIV. The synthesis of some oligopeptides containing lysine and glutamic acid residues. J Chem Soc Perkin 1 1966 0.79
106 Refraction in childhood. Trans Ophthalmol Soc U K 1985 0.79
107 Bilateral optic nerve sheath meningiomas in a patient with neurofibromatosis type 2. Br J Ophthalmol 1992 0.79
108 Colour vision screening in glaucoma: the Tritan Album and other simple tests. Ophthalmic Physiol Opt 1994 0.79
109 Full-field ERG responses recorded with skin electrodes in paediatric patients with retinal dystrophy. Doc Ophthalmol 2004 0.79
110 A clinical and molecular genetic analysis of solitary ocular angioma. Ophthalmology 1999 0.78
111 Ischaemic retinopathy occurring in patients receiving bone marrow allografts and campath-1G: a clinicopathological study. Br J Ophthalmol 1995 0.77
112 Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction. J Med Genet 1990 0.77
113 Visual outcome in patients with isolated autosomal dominant congenital cataract. Ophthalmology 2001 0.77
114 A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21. J Med Genet 1998 0.77
115 Latency of thyroid hormone action on heat production in the rat. Experientia Suppl 1978 0.77
116 Molecular genetics of infantile-onset retinal dystrophies. Eye (Lond) 2007 0.77
117 Results of early surgery for infantile esotropia in normal and neurologically impaired infants. Eye (Lond) 1992 0.77
118 Brain injury and ocular motor abnormalities in surviving preterm infants. Br J Ophthalmol 1999 0.77
119 Carrier detection in X linked ocular albinism using linked DNA polymorphisms. Br J Ophthalmol 1994 0.76
120 Flecked retina associated with ring 17 chromosome. Br J Ophthalmol 1991 0.75
121 Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus. J Med Genet 1990 0.75
122 Improved genetic mapping of X linked retinoschisis. J Med Genet 1996 0.75
123 Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene. Eye (Lond) 2012 0.75
124 Ocular malformations and the fruits of developmental genetics. Eye (Lond) 1994 0.75
125 Congenital hypertrophy of retinal pigment epithelium and risk estimation in adenomatous polyposis coli. Lancet 1990 0.75
126 Bilateral non-specific orbital inflammation (orbital "pseudotumour"), posterior scleritis, and anterior uveitis associated with hypothyroidism in a child. Br J Ophthalmol 2002 0.75
127 The photoreceptor. Eye (Lond) 1998 0.75
128 How well does man thermoregulate during sleep? Experientia 1974 0.75
129 Metal hip joint. A case report. Clin Orthop Relat Res 1970 0.75
130 Microbial keratitis in ITU staff: an occupational hazard? Anaesthesia 2004 0.75
131 Screening for retinopathy of prematurity. Eye (Lond) 1992 0.75
132 The lens. Eye (Lond) 1999 0.75
133 Is optic nerve fibre mis-routing a feature of congenital stationary night blindness? Doc Ophthalmol 2006 0.75
134 Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY. Mamm Genome 1998 0.75