PubRank

G R Cutting

Author PubWeight™ 113.97‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991 11.44
2 The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998 5.08
3 The skipping of constitutive exons in vivo induced by nonsense mutations. Science 1993 4.41
4 Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001 3.72
5 CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell 1995 3.46
6 Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood 2000 3.36
7 Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat Genet 1993 3.22
8 Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros 2008 2.56
9 In vivo model of adeno-associated virus vector persistence and rescue. J Virol 1996 2.41
10 Comparison of the clinical manifestations of cystic fibrosis in black and white patients. J Pediatr 1998 1.97
11 Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet 1997 1.84
12 Recombinant adeno-associated virus (AAV-CFTR) vectors do not integrate in a site-specific fashion in an immortalized epithelial cell line. Gene Ther 1996 1.84
13 A PDZ-interacting domain in CFTR is an apical membrane polarization signal. J Clin Invest 1999 1.73
14 Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains. Hum Mutat 1992 1.71
15 Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene. J Clin Invest 1992 1.68
16 Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. Ophthalmic Genet 1999 1.66
17 Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. JAMA 2000 1.62
18 A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. Am J Med Genet A 2009 1.57
19 Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J Clin Invest 1991 1.56
20 Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros 2011 1.54
21 ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat 2001 1.45
22 Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet 1999 1.41
23 Variable deletion of exon 9 coding sequences in cystic fibrosis transmembrane conductance regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J 1991 1.40
24 Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in allergic bronchopulmonary aspergillosis. Am J Hum Genet 1996 1.38
25 The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the apical plasma membrane. J Biol Chem 2000 1.36
26 Both CFTR and outwardly rectifying chloride channels contribute to cAMP-stimulated whole cell chloride currents. Am J Physiol 1994 1.35
27 Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 1992 1.32
28 Both the wild type and a functional isoform of CFTR are expressed in kidney. Am J Physiol 1996 1.27
29 Genotype-phenotype relationships in cystic fibrosis. Med Clin North Am 2000 1.26
30 Macromolecular organization of human centromeric regions reveals high-frequency, polymorphic macro DNA repeats. Proc Natl Acad Sci U S A 1989 1.25
31 CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells. Hum Mol Genet 1992 1.19
32 Analysis of ClC-2 channels as an alternative pathway for chloride conduction in cystic fibrosis airway cells. Proc Natl Acad Sci U S A 1998 1.19
33 Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene. Hum Genet 1991 1.16
34 A single amino acid in gamma-aminobutyric acid rho 1 receptors affects competitive and noncompetitive components of picrotoxin inhibition. Proc Natl Acad Sci U S A 1995 1.14
35 A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis. Hum Mol Genet 1998 1.14
36 Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis. J Clin Invest 1992 1.13
37 Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents. Proc Natl Acad Sci U S A 1995 1.13
38 A novel gamma-aminobutyric acid receptor subunit (rho 2) cloned from human retina forms bicuculline-insensitive homooligomeric receptors in Xenopus oocytes. J Neurosci 1994 1.13
39 A single histidine residue is essential for zinc inhibition of GABA rho 1 receptors. J Neurosci 1995 1.10
40 Alternate translation initiation codons can create functional forms of cystic fibrosis transmembrane conductance regulator. J Biol Chem 1995 1.08
41 Cloning of a putative human voltage-gated chloride channel (CIC-2) cDNA widely expressed in human tissues. Hum Mol Genet 1995 1.08
42 A transformed human epithelial cell line that retains tight junctions post crisis. In Vitro Cell Dev Biol 1993 1.07
43 Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy. Mol Genet Metab 1999 1.07
44 CFTR protein expression in primary and cultured epithelia. Proc Natl Acad Sci U S A 1992 1.07
45 GABAC receptor rho subunits are heterogeneously expressed in the human CNS and form homo- and heterooligomers with distinct physical properties. Eur J Neurosci 1999 1.06
46 Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay. J Med Genet 2004 1.04
47 Expression of the voltage-gated chloride channel ClC-2 in rod bipolar cells of the rat retina. J Neurosci 1999 1.01
48 A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis. Diabetologia 2009 0.99
49 A PDZ-binding motif is essential but not sufficient to localize the C terminus of CFTR to the apical membrane. J Cell Sci 2001 0.98
50 Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy. Am J Hum Genet 1991 0.98
51 Molecular composition of GABAC receptors. Vision Res 1998 0.97
52 Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Hum Mutat 1997 0.97
53 Simplified multiplex-PCR diagnosis of common southeast asian deletional determinants of alpha-thalassemia. Clin Chem 2000 0.96
54 Differences in expression of cystic fibrosis in blacks and whites. Am J Dis Child 1991 0.95
55 Understanding the population structure of North American patients with cystic fibrosis. Clin Genet 2011 0.95
56 Cystic fibrosis transmembrane conductance regulator gene mutations: do they play a role in the aetiology of allergic bronchopulmonary aspergillosis? Clin Exp Allergy 2002 0.94
57 Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival. Hum Genet 1997 0.93
58 Clinical implications of cystic fibrosis transmembrane conductance regulator mutations. Clin Chest Med 1998 0.92
59 Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity. Hum Mol Genet 1995 0.91
60 Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis. FASEB J 1992 0.90
61 A comparison of GABAC and rho subunit receptors from the white perch retina. Vis Neurosci 1998 0.86
62 Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome. Hum Mutat 1992 0.86
63 Dopamine D2 receptor RFLPs, haplotypes and their association with substance use in black and Caucasian research volunteers. Hum Hered 1993 0.86
64 The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q. Hum Genet 1991 0.84
65 Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa. J Med Genet 2000 0.84
66 Cystic fibrosis mutations delta F508 and G542X in Jewish patients. J Med Genet 1992 0.84
67 GABA rho 2 receptor pharmacological profile: GABA recognition site similarities to rho 1. Eur J Pharmacol 1993 0.84
68 Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels. Am J Hum Genet 2000 0.83
69 Evidence for a common ethnic origin of cystic fibrosis mutation 3120+1G-->A in diverse populations. Am J Hum Genet 1998 0.81
70 Identification of 70 amino acids important for GABA(C) receptor rho1 subunit assembly. Brain Res 1999 0.80
71 Sequences in the amino termini of GABA rho and GABA(A) subunits specify their selective interaction in vitro. J Neurochem 1998 0.79
72 Regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gene transcription and alternative RNA splicing in a model of developing intestinal epithelium. J Biol Chem 1992 0.78
73 The N-terminal domain of human GABA receptor rho1 subunits contains signals for homooligomeric and heterooligomeric interaction. J Biol Chem 1997 0.78
74 A 100 amino acid region in the GABA rho 1 subunit confers robust homo-oligomeric expression. Neuroreport 1997 0.78
75 Developmentally regulated expression of GABA receptor rho1 and rho2 subunits, L7 and cone-rod homeobox (CRX) genes in mouse retina. Brain Res 2001 0.77
76 Two steps closer to gene therapy for cystic fibrosis. Nat Genet 1992 0.75