PubRank

Graeme C M Black

Author PubWeight™ 72.57‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res 2013 5.66
2 Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 2004 2.72
3 Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet 2004 2.70
4 Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet 2002 2.33
5 Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet 2008 2.24
6 BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci 2002 2.19
7 Identification of mutations in CUL7 in 3-M syndrome. Nat Genet 2005 2.10
8 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat 2010 1.88
9 Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet 2007 1.85
10 Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet 2011 1.84
11 Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet 2011 1.84
12 Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet 2003 1.83
13 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet 2012 1.82
14 Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci 2004 1.69
15 Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet 2007 1.54
16 Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet 2009 1.53
17 Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. Am J Hum Genet 2011 1.40
18 The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet 2009 1.35
19 An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis. Hum Mol Genet 2011 1.29
20 Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. Hum Mutat 2007 1.21
21 Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci 2004 1.19
22 Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria. Am J Hum Genet 2010 1.17
23 Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet 2011 1.15
24 The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway. Horm Res Paediatr 2011 1.13
25 Identification of genomic loci contributing to agenesis of the corpus callosum. Am J Med Genet A 2010 1.13
26 Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants. Invest Ophthalmol Vis Sci 2006 1.12
27 Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. Clin Endocrinol (Oxf) 2012 1.08
28 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. Eur J Med Genet 2009 1.04
29 Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. Hum Mutat 2008 1.04
30 Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. Am J Hum Genet 2010 1.03
31 A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum Mutat 2006 1.02
32 Childhood-onset autosomal recessive bestrophinopathy. Arch Ophthalmol 2011 1.02
33 A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1. Mol Vis 2010 1.01
34 Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus. Am J Hum Genet 2011 1.00
35 Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination. Hum Mol Genet 2007 1.00
36 Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. Mol Vis 2006 0.98
37 Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin. Genet Med 2012 0.97
38 Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method. Br J Ophthalmol 2013 0.96
39 A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding. Hum Mol Genet 2003 0.96
40 Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. Invest Ophthalmol Vis Sci 2011 0.94
41 Breast cancer susceptibility variants alter risks in familial disease. J Med Genet 2009 0.90
42 Understanding the expectations of patients with inherited retinal dystrophies. Br J Ophthalmol 2013 0.89
43 Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene. Am J Med Genet A 2011 0.89
44 Brittle cornea syndrome: recognition, molecular diagnosis and management. Orphanet J Rare Dis 2013 0.85
45 ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Mol Genet Metab 2013 0.85
46 Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat 2010 0.84
47 Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. Am J Ophthalmol 2006 0.82
48 Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2. Invest Ophthalmol Vis Sci 2011 0.81
49 VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype. Br J Ophthalmol 2010 0.79
50 Vitreous phenotype: genotype correlation in Stickler syndrome. Graefes Arch Clin Exp Ophthalmol 2002 0.78
51 Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. Am J Med Genet A 2008 0.78
52 Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. Am J Med Genet A 2005 0.77
53 Familial retinal detachment associated with COL2A1 exon 2 and FZD4 mutations. Clin Experiment Ophthalmol 2012 0.77
54 A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. Eur J Med Genet 2007 0.76
55 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). Eur J Hum Genet 2012 0.75
56 Inherited eye disease: cause and late effect. Trends Mol Med 2005 0.75
57 Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data. Hum Mutat 2013 0.75
58 The use of autozygosity mapping and next-generation sequencing in understanding anterior segment defects caused by an abnormal development of the lens. Hum Hered 2014 0.75