PubRank

D J Porteous

Author PubWeight™ 138.91‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum Mol Genet 2000 7.16
2 Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am J Hum Genet 2001 4.77
3 Genome-wide association studies establish that human intelligence is highly heritable and polygenic. Mol Psychiatry 2011 4.16
4 The DISC locus in psychiatric illness. Mol Psychiatry 2007 3.46
5 SUSPECTS: enabling fast and effective prioritization of positional candidates. Bioinformatics 2006 2.96
6 WWOX: a candidate tumor suppressor gene involved in multiple tumor types. Proc Natl Acad Sci U S A 2001 2.79
7 Splinkerettes--improved vectorettes for greater efficiency in PCR walking. Nucleic Acids Res 1995 2.51
8 Lung clearance index is a sensitive, repeatable and practical measure of airways disease in adults with cystic fibrosis. Thorax 2007 1.93
9 Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia. Mol Psychiatry 2001 1.81
10 High-resolution localization of 69 potential human zinc finger protein genes: a number are clustered. Genomics 1992 1.74
11 A locus for bipolar affective disorder on chromosome 4p. Nat Genet 1996 1.67
12 A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction. Gene Ther 1996 1.49
13 Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population. Mol Psychiatry 2005 1.41
14 A 700-kb physical map of a region of 16q23.2 homozygously deleted in multiple cancers and spanning the common fragile site FRA16D. Cancer Res 2000 1.39
15 Lung disease in the cystic fibrosis mouse exposed to bacterial pathogens. Nat Genet 1995 1.37
16 Disrupted in Schizophrenia 1 (DISC1) is a multicompartmentalized protein that predominantly localizes to mitochondria. Mol Cell Neurosci 2004 1.35
17 Control of the flux in the arginine pathway of Neurospora crassa. Modulations of enzyme activity and concentration. Biochem J 1981 1.35
18 Identification of polymorphisms within Disrupted in Schizophrenia 1 and Disrupted in Schizophrenia 2, and an investigation of their association with schizophrenia and bipolar affective disorder. Psychiatr Genet 2001 1.30
19 Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder. Mol Psychiatry 2008 1.27
20 Chromosomal location and genomic structure of the human translin-associated factor X gene (TRAX; TSNAX) revealed by intergenic splicing to DISC1, a gene disrupted by a translocation segregating with schizophrenia. Genomics 2000 1.23
21 Association of Neuregulin 1 with schizophrenia and bipolar disorder in a second cohort from the Scottish population. Mol Psychiatry 2006 1.23
22 Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome. Proc Natl Acad Sci U S A 1985 1.22
23 CFTR and calcium-activated chloride currents in pancreatic duct cells of a transgenic CF mouse. Am J Physiol 1994 1.20
24 Molecular and physical arrangements of human DNA in HRAS1-selected, chromosome-mediated transfectants. Mol Cell Biol 1986 1.17
25 Control of the flux in the arginine pathway of Neurospora crassa. The flux from citrulline to arginine. Biochem J 1980 1.16
26 Association between genotype at an exonic SNP in DISC1 and normal cognitive aging. Neurosci Lett 2005 1.15
27 Inclusion of cholesterol in DOTAP transfection complexes increases the delivery of DNA to cells in vitro in the presence of serum. Gene Ther 1998 1.14
28 Rethinking the genetic architecture of schizophrenia. Psychol Med 2010 1.13
29 Sendai virus-mediated CFTR gene transfer to the airway epithelium. Gene Ther 2007 1.13
30 Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. EMBO J 1996 1.13
31 Disruption of a brain transcription factor, NPAS3, is associated with schizophrenia and learning disability. Am J Med Genet B Neuropsychiatr Genet 2005 1.13
32 Cytogenetic and genetic evidence supports a role for the kainate-type glutamate receptor gene, GRIK4, in schizophrenia and bipolar disorder. Mol Psychiatry 2006 1.12
33 Adenoviral augmentation of elafin protects the lung against acute injury mediated by activated neutrophils and bacterial infection. J Immunol 2001 1.11
34 HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13. Proc Natl Acad Sci U S A 1987 1.11
35 Pre-clinical evaluation of three non-viral gene transfer agents for cystic fibrosis after aerosol delivery to the ovine lung. Gene Ther 2011 1.10
36 A genome scan and follow-up study identify a bipolar disorder susceptibility locus on chromosome 1q42. Mol Psychiatry 2004 1.08
37 Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor. Mol Psychiatry 2005 1.07
38 Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type Cftr gene expression. Mamm Genome 1994 1.06
39 Restriction fragment length polymorphism analysis and assignment of the metalloproteinases stromelysin and collagenase to the long arm of chromosome 11. Genomics 1988 1.02
40 Subcellular targeting of DISC1 is dependent on a domain independent from the Nudel binding site. Mol Cell Neurosci 2005 1.01
41 Nuts and bolts of psychiatric genetics: building on the Human Genome Project. Trends Genet 2001 1.01
42 Non-viral vectors in cystic fibrosis gene therapy: progress and challenges. Trends Biotechnol 2004 1.00
43 Definition and refinement of a region of loss of heterozygosity at 11q23.3-q24.3 in epithelial ovarian cancer associated with poor prognosis. Cancer Res 1996 0.99
44 A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome. Proc Natl Acad Sci U S A 1999 0.98
45 Partial deletion of chromosome 11p in breast cancer correlates with size of primary tumour and oestrogen receptor level. Br J Cancer 1988 0.97
46 Transcriptional regulation of neurodevelopmental and metabolic pathways by NPAS3. Mol Psychiatry 2011 0.96
47 A common variant in the 3'UTR of the GRIK4 glutamate receptor gene affects transcript abundance and protects against bipolar disorder. Proc Natl Acad Sci U S A 2008 0.96
48 Some principles and practices of genetic biobanking studies. Eur Respir J 2009 0.95
49 Selection for precise chromosomal targeting of a dominant marker by homologous recombination. Science 1989 0.94
50 Association of DISC1 variants with age of onset in a population-based sample of recurrent major depression. Mol Psychiatry 2012 0.94
51 BARX2 induces cadherin 6 expression and is a functional suppressor of ovarian cancer progression. Cancer Res 2001 0.94
52 Hitch-hiking from HRAS1 to the WAGR locus with CMGT markers. Nucleic Acids Res 1988 0.93
53 Gene mapping and physical arrangements of human chromatin in transformed, hybrid cells: fluorescent and autoradiographic in situ hybridization compared. Somat Cell Mol Genet 1986 0.93
54 GWAS for psychiatric disease: is the framework built on a solid foundation? Mol Psychiatry 2009 0.93
55 The genomic organisation of the metabotropic glutamate receptor subtype 5 gene, and its association with schizophrenia. Mol Psychiatry 2001 0.92
56 Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis. Eur Respir J 1997 0.91
57 Regulation of adenovirus-mediated elafin transgene expression by bacterial lipopolysaccharide. Hum Gene Ther 2001 0.91
58 A 6.9-Mb high-resolution BAC/PAC contig of human 4p15.3-p16.1, a candidate region for bipolar affective disorder. Genomics 2001 0.91
59 Chromosomal abnormalities and mental illness. Mol Psychiatry 2003 0.90
60 Identification of genes from a schizophrenia-linked translocation breakpoint region. Genomics 2001 0.90
61 Heritability of chronic pain in 2195 extended families. Eur J Pain 2012 0.90
62 Bioelectric characteristics of exon 10 insertional cystic fibrosis mouse: comparison with humans. Am J Physiol 1995 0.89
63 Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13. Genomics 1995 0.89
64 Variation in DISC1 is associated with anxiety, depression and emotional stability in elderly women. Mol Psychiatry 2010 0.87
65 CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia. Genomics 1989 0.87
66 Bacterial DNA is implicated in the inflammatory response to delivery of DNA/DOTAP to mouse lungs. Gene Ther 2000 0.87
67 Plasmid DNA molecules complexed with cationic liposomes are protected from degradation by nucleases and shearing by aerosolisation. Gene Ther 1996 0.86
68 Association analysis of the chromosome 4p15-p16 candidate region for bipolar disorder and schizophrenia. Mol Psychiatry 2007 0.86
69 Synaptic modulators Nrxn1 and Nrxn3 are disregulated in a Disc1 mouse model of schizophrenia. Mol Psychiatry 2011 0.85
70 YAC mapping by FISH using Alu-PCR-generated probes. Genomics 1992 0.85
71 Identification and characterization of a homozygous deletion found in ovarian ascites by representational difference analysis. Genome Res 1999 0.84
72 Optimising gene repair strategies in cell culture. Gene Ther 2002 0.84
73 Rapid and quantitative detection of unique sequence donor DNA in extracts of cultured mammalian cells: an aid to chromosome mapping. Somat Cell Mol Genet 1985 0.84
74 Insertion of natural intron 6a-6b into a human cDNA-derived gene therapy vector for cystic fibrosis improves plasmid stability and permits facile RNA/DNA discrimination. J Gene Med 2000 0.84
75 Cytogenetics and gene discovery in psychiatric disorders. Pharmacogenomics J 2005 0.84
76 Co-ordinated action of DISC1, PDE4B and GSK3β in modulation of cAMP signalling. Mol Psychiatry 2011 0.84
77 A cosmid clone map derived from a small region of human chromosome 11. Genomics 1989 0.84
78 Towards gene therapy for cystic fibrosis: a clinical progress report. Gene Ther 1998 0.83
79 Convergence of linkage, association and GWAS findings for a candidate region for bipolar disorder and schizophrenia on chromosome 4p. Mol Psychiatry 2010 0.83
80 Predicting cognitive ability in ageing cohorts using Type 2 diabetes genetic risk. Diabet Med 2014 0.83
81 Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids. Somat Cell Mol Genet 1988 0.83
82 Coincident sequence cloning. Nucleic Acids Res 1991 0.82
83 High frequency gene targeting using insertional vectors. Hum Mol Genet 1993 0.82
84 Rapid isolation and characterization of hybridization selected recombinants from lambda genomic libraries. Anal Biochem 1986 0.82
85 Cloning the shared components of complex DNA resources. Hum Mol Genet 1994 0.81
86 Functional correction of episomal mutations with short DNA fragments and RNA-DNA oligonucleotides. J Gene Med 2002 0.81
87 Enhancing the efficiency of introducing precise mutations into the mouse genome by hit and run gene targeting. Transgenic Res 2000 0.81
88 Gene targeting for somatic cell manipulation: rapid analysis of reduced chromosome hybrids by Alu-PCR fingerprinting and chromosome painting. Hum Mol Genet 1992 0.81
89 Is bipolar disorder more common in highly intelligent people? A cohort study of a million men. Mol Psychiatry 2012 0.81
90 Gene therapy for lung inflammatory diseases: not so far away? Thorax 1997 0.81
91 Human repeat-mediated integration of selectable markers into somatic cell hybrids. Genome Res 1995 0.80
92 Physical mapping of a glutamate receptor gene in relation to a balanced translocation associated with schizophrenia in a large Scottish family. Psychiatr Genet 1997 0.80
93 Effect of IBMX and alkaline phosphatase inhibitors on Cl- secretion in G551D cystic fibrosis mutant mice. Am J Physiol 1998 0.80
94 Schizophrenia-associated chromosome 11q21 translocation: identification of flanking markers and development of chromosome 11q fragment hybrids as cloning and mapping resources. Am J Hum Genet 1993 0.80
95 Genomic sequence analysis of Fugu rubripes CFTR and flanking genes in a 60 kb region conserving synteny with 800 kb of human chromosome 7. Genome Res 2000 0.80
96 Evaluation in vitro and in vivo of cationic liposome-expression construct complexes for cystic fibrosis gene therapy. Gene Ther 1995 0.80
97 Markers close to the dopamine D5 receptor gene (DRD5) show significant association with schizophrenia but not bipolar disorder. Am J Med Genet 2001 0.80
98 Novel transcribed sequences neighbouring a translocation breakpoint associated with schizophrenia. Am J Med Genet 1997 0.80
99 A series of vectors that simplify mammalian gene targeting. Transgenic Res 1993 0.79
100 Alu-based vectorettes and splinkerettes. More efficient and comprehensive polymerase chain reaction amplification of human DNA from complex sources. Genet Anal Tech Appl 1994 0.79
101 Genetics and pulmonary medicine. 1. The genetics of cystic fibrosis lung disease. Thorax 1998 0.79
102 Residual cftr expression varies with age in cftr(tm1Hgu) cystic fibrosis mice: impact on morphology and physiology. Pathobiology 2002 0.79
103 HRAS1-selected, chromosome-mediated transformants vary in phenotype in vitro and tumorigenic potential in vivo. Int J Cancer 1986 0.78
104 Cystic fibrosis mice with disease-related changes in lung and reproductive tract. Lancet 1992 0.78
105 Novel transcribed sequences represented in the complex genomic region 5q13. Biochim Biophys Acta 1996 0.78
106 Association analysis of the chromosome 4p-located G protein-coupled receptor 78 (GPR78) gene in bipolar affective disorder and schizophrenia. Mol Psychiatry 2006 0.78
107 HRAS1-selected, chromosome mediated gene transfer; in situ hybridization with combined biotin and tritium label localizes the oncogene and reveals duplications of the human transgenome. Cytogenet Cell Genet 1987 0.78
108 Molecular cloning of a rearranged HRAS1 oncogene in chromosome mediated gene transfer associated with elevated tumorigenicity. Oncogene 1991 0.78
109 Catch-linker + PCR labeling: a simple method to generate fluorescence in situ hybridization probes from yeast artificial chromosomes. PCR Methods Appl 1995 0.78
110 Recombination patterns around the breakpoints of a balanced 1;11 autosomal translocation associated with major mental illness. Psychiatr Genet 1996 0.77
111 Coincident sequence cloning: a new approach to genome analysis. Trends Biotechnol 1992 0.77
112 Dinucleotide repeat polymorphism at the human olfactory marker protein (OMP) locus on chromosome 11q13.5 near tyrosinase (TYR). Hum Mol Genet 1993 0.77
113 Revisiting the mouse lung model for CF. Gene Ther 2004 0.77
114 Modelling cystic fibrosis in the mouse. Mol Med Today 1995 0.77
115 Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder. Am J Med Genet 2000 0.77
116 Isolation and characterization of the mouse translin-associated protein X (Trax) gene. Mamm Genome 2000 0.77
117 Genome-wide analysis of over 106 000 individuals identifies 9 neuroticism-associated loci. Mol Psychiatry 2016 0.76
118 Does a history of depression actually mediate smoking-related pain? Findings from a cross-sectional general population-based study. Eur J Pain 2014 0.76
119 Mapping studies on a pericentric inversion (18) (p11.31 q21.1) in a family with both schizophrenia and learning disability. Psychiatr Genet 1999 0.76
120 Successful targeting of the mouse cystic fibrosis transmembrane conductance regulator gene in embryonal stem cells. Transgenic Res 1992 0.76
121 An allelic association study of two polymorphic markers in close proximity to a balanced translocation t(1:11) that co-segregates with mental illness. Psychiatr Genet 1997 0.76
122 Laboratory and clinical studies in support of cystic fibrosis gene therapy using pCMV-CFTR-DOTAP. Gene Ther 1996 0.76
123 An improved method for recovering intact pulsed field gel purified DNA, of at least 1.6 megabases. Nucleic Acids Res 1994 0.75
124 Twin peaks: the draft human genome sequence. Genome Biol 2001 0.75
125 pSURF-2, a modified BAC vector for selective YAC cloning and functional analysis. Biotechniques 1999 0.75
126 Polyacrylamide-agarose composite gels for high resolution of fingerprints. Trends Genet 1992 0.75
127 In silico identification of transcripts and SNPs from a region of 4p linked with bipolar affective disorder. Bioinformatics 2000 0.75
128 Identifying genes within microdissected genomic DNA: isolation of brain expressed genes from a translocation region associated with inherited mental illness. Mamm Genome 1995 0.75
129 The c-Harvey-ras-1 oncogene in chromosome mediated gene transfer. Anticancer Res 1987 0.75
130 A long-range restriction map across 3 Mb of the chromosome 11 breakpoint region of a translocation linked to schizophrenia: localization of the breakpoint and the search for neighbouring genes. Psychiatr Genet 1998 0.75
131 Regional localisation of 19 brain expressed sequence tags to human chromosome 11 using PCR amplification of somatic cell hybrid DNAs. Cytogenet Cell Genet 1995 0.75
132 Elimination of contaminant Escherichia coli chromosomal DNA from preparations of P1 artificial chromosome recombinants facilitates directed subcloning. Electrophoresis 1999 0.75
133 Cystic fibrosis--the way forward from the gene. Trends Biotechnol 1991 0.75
134 Comparing human genome mapping data. Science 2001 0.75
135 Rapid quantitation of gene therapy specific CFTR expression using the amplification refractory mutation system. Biotechniques 1999 0.75
136 Placement and refined mapping of established and new markers on human chromosome 11q using a small panel of somatic cell hybrids. Eur J Hum Genet 1995 0.75
137 Rapid isolation of moderate and highly polymorphic DNA fragments mapping close to WT (Wilms' tumour) and AN2 (aniridia) on chromosome 11. Hum Genet 1989 0.75
138 Distribution of Alu and L1 repeats in human YAC recombinants. Mamm Genome 1992 0.75
139 Mammalian gene studies. Curr Opin Biotechnol 1993 0.75
140 Molecular analysis of the aniridia--Wilms' tumor syndrome. Curr Top Microbiol Immunol 1988 0.75
141 Physical mapping: integrating computational and molecular genetic data. Ann Hum Genet 2001 0.75
142 Gene mappers at cold spring harbor. Science 1992 0.75
143 PCR-generated cross-over linkers for site-directed mutagenesis. Biotechniques 1997 0.75
144 Construction of a library enriched for human chromosome 11 and Xp YAC recombinants. Mamm Genome 1991 0.75
145 Wilms tumour: a developmental anomaly. Princess Takamatsu Symp 1989 0.75
146 A genome-wide search for linkage in a large bipolar family: comparison of genotyping accuracy using di- and tetranucleotide repeat microsatellite markers. Psychiatr Genet 1996 0.75
147 Long-range structure of H-ras 1-selected transgenomes. Somat Cell Mol Genet 1989 0.75