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Lista de obras de David J. Porteous

536. Cognitive Performance in Major Depressive Disorder in Generation Scotland: The Scottish Family Health Study (GS:SFHS)

article

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

artículo científico publicado en 2004

A 6.9-Mb high-resolution BAC/PAC contig of human 4p15.3-p16.1, a candidate region for bipolar affective disorder.

artículo científico publicado en 2001

A Combined Pathway and Regional Heritability Analysis Indicates NETRIN1 Pathway Is Associated With Major Depressive Disorder

artículo científico publicado en 2016

A Phase I/IIa Safety and Efficacy Study of Nebulized Liposome-mediated Gene Therapy for Cystic Fibrosis Supports a Multidose Trial

artículo científico publicado en 2015

A case-control association study and family-based expression analysis of the bipolar disorder candidate gene PI4K2B

artículo científico publicado en 2009

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

A cosmid clone map derived from a small region of human chromosome 11

artículo científico publicado en 1989

A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression

artículo científico publicado en 2009

A genome scan and follow-up study identify a bipolar disorder susceptibility locus on chromosome 1q42

artículo científico publicado en 2004

A genome-wide search for genetic influences and biological pathways related to the brain's white matter integrity

artículo científico publicado en 2012

A meta-analysis of genome-wide association studies of epigenetic age acceleration

artículo científico publicado en 2019

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

scientific article published on 10 April 2019

A neuregulin 1 variant associated with abnormal cortical function and psychotic symptoms

artículo científico publicado en 2006

A new yeast artificial chromosome vector designed for gene transfer into mammalian cells

article

A pilot study of urinary peptides as biomarkers for intelligence in old age

article

A randomised, double-blind, placebo-controlled trial of repeated nebulisation of non-viral cystic fibrosis transmembrane conductance regulator (CFTR) gene therapy in patients with cystic fibrosis

artículo científico publicado en 2016

A series of vectors that simplify mammalian gene targeting

artículo científico publicado en 1993

A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins

artículo científico publicado en 2012

ADRB2, brain white matter integrity and cognitive ageing in the Lothian Birth Cohort 1936.

artículo científico publicado en 2012

APOE/TOMM40 genetic loci, white matter hyperintensities, and cerebral microbleeds

artículo científico publicado en 2015

Accelerated Epigenetic Ageing in Major Depressive Disorder

scholarly article published 28 October 2017

Alu-based vectorettes and splinkerettes

artículo científico publicado en 1994

Alzheimer's disease genes are associated with measures of cognitive ageing in the lothian birth cohorts of 1921 and 1936

artículo científico publicado en 2011

Alzheimer's disease risk factor complement receptor 1 is associated with depression

artículo científico publicado en 2012

Alzheimer's disease susceptibility genes APOE and TOMM40, and brain white matter integrity in the Lothian Birth Cohort 1936.

scientific article published on 08 January 2014

Alzheimer's disease susceptibility genes APOE and TOMM40, and hippocampal volumes in the Lothian birth cohort 1936.

artículo científico publicado en 2013

An epigenetic score for BMI based on DNA methylation correlates with poor physical health and major disease in the Lothian Birth Cohort

article

An immunocytochemical assay to detect human CFTR expression following gene transfer

artículo científico publicado en 2009

An interrupted beta-propeller and protein disorder: structural bioinformatics insights into the N-terminus of alsin

artículo científico publicado en 2008

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Anin VitroTerminal Dilution Method for Assay of the Survival of Non-adhering Cells

scientific article published on 01 January 1972

Apolipoprotein E is not related to memory abilities at 70 years of age.

artículo científico publicado en 2008

Are some genetic risk factors common to schizophrenia, bipolar disorder and depression? Evidence from DISC1, GRIK4 and NRG1.

artículo científico publicado en 2007

Assessment of CFTR function after gene transfer in vitro and in vivo.

artículo científico publicado en 2008

Assessment of F/HN-pseudotyped lentivirus as a clinically relevant vector for lung gene therapy

artículo científico publicado en 2012

Assessment of dried blood spots for DNA methylation profiling

Association analysis of Neuregulin 1 candidate regions in schizophrenia and bipolar disorder

article

Association analysis of the chromosome 4p15–p16 candidate region for bipolar disorder and schizophrenia

article

Association between genotype at an exonic SNP in DISC1 and normal cognitive aging.

artículo científico publicado en 2005

Association of Neuregulin 1 with schizophrenia and bipolar disorder in a second cohort from the Scottish population

artículo científico publicado en 2006

Association of Whole-Genome and NETRIN1 Signaling Pathway–Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank

scholarly article by Miruna C. Barbu et al published July 2018 in Biological Psychiatry: Cognitive Neuroscience and Neuroimaging

Associations of autozygosity with a broad range of human phenotypes

scientific article published on 31 October 2019

Author Correction: Bayesian reassessment of the epigenetic architecture of complex traits

scientific article published on 09 October 2020

Author Correction: New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

scientific article published on 01 June 2019

Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function ⬇️

scientific article published on 01 May 2019

Bayesian reassessment of the epigenetic architecture of complex traits

artículo científico publicado en 2020

Behavioral phenotypes of Disc1 missense mutations in mice

artículo científico publicado en 2007

Biomarkers for cystic fibrosis lung disease: application of SELDI-TOF mass spectrometry to BAL fluid

artículo científico publicado en 2008

Birth weight associations with DNA methylation differences in an adult population

artículo científico publicado en 2020

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

artículo científico publicado en 2017

Candidate psychiatric illness genes identified in patients with pericentric inversions of chromosome 18

artículo científico publicado en 2005

Casting multiple aliquots of agarose-embedded cells for PFGE analysis

scientific article published on 01 November 1990

Chimeric constructs endow the human CFTR Cl- channel with the gating behavior of murine CFTR

artículo científico publicado en 2007

Chromosomal abnormalities and mental illness.

artículo científico publicado en 2003

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.

artículo científico publicado en 2000

Co-ordinated action of DISC1, PDE4B and GSK3β in modulation of cAMP signalling

artículo científico publicado en 2011

Cohort profile for the STratifying Resilience and Depression Longitudinally (STRADL) study: A depression-focused investigation of Generation Scotland, using detailed clinical, cognitive, and neuroimaging assessments

artículo científico publicado en 2019

Coincident sequence cloning: a new approach to genome analysis.

artículo científico publicado en 1992

Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

artículo científico publicado en 2014

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

artículo científico publicado en 2018

Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time

artículo científico publicado en 2010

Computational comparison of human genomic sequence assemblies for a region of chromosome 4.

artículo científico publicado en 2002

Construction of a library enriched for human chromosome 11 and Xp YAC recombinants ⬇️

artículo científico publicado el 1 de enero de 1991

Convergence of linkage, association and GWAS findings for a candidate region for bipolar disorder and schizophrenia on chromosome 4p

scientific article published on 30 March 2010

Copy number variation across European populations

artículo científico publicado en 2011

Correction for Thomas et al., 2004, Genet. Epidemiol. 26:116-124

Correction: GWAS on family history of Alzheimer's disease.

artículo científico publicado en 2019

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

artículo científico publicado en 2017

Correction: Pedigree- and SNP-Associated Genetics and Recent Environment are the Major Contributors to Anthropometric and Cardiometabolic Trait Variation

artículo científico publicado en 2017

Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis

artículo científico publicado en 1997

Corrigendum: Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

artículo científico publicado en 2017

Corrigendum: Rare coding variants and X-linked loci associated with age at menarche

artículo científico publicado en 2015

CovidLife: a resource to understand mental health, well-being and behaviour during the COVID-19 pandemic in the UK

artículo científico publicado en 2021

CpG-free plasmids confer reduced inflammation and sustained pulmonary gene expression.

artículo científico publicado en 2008

Current status and future prospects for the treatment of lung disease in cystic fibrosis by gene therapy

artículo científico publicado en 1994

Current versus lifetime depression, APOE variation, and their interaction on cognitive performance in younger and older adults

artículo científico publicado en 2015

Cystic fibrosis lung infection cleared up? ⬇️

artículo científico publicado el 1 de diciembre de 1997

Cystic fibrosis mice with disease-related changes in lung and reproductive tract

artículo científico publicado en 1992

Cystic fibrosis--the way forward from the gene

artículo científico publicado el 1 de febrero de 1991

Cystic fibrosis. 3. Cloning the cystic fibrosis gene: implications for diagnosis and treatment

artículo científico publicado en 1991

Cystic fibrosis: five years beyond the gene

artículo científico publicado en 1995

Cystic fibrosis: from linked markers to the gene

article

Cystic fibrosis: prospects for therapy

artículo científico publicado en 1993

Cytogenetics and gene discovery in psychiatric disorders.

artículo científico publicado en 2005

DISC1 PATHWAY EXPRESSION IN MOUSE AND MAN

DISC1 and Huntington's disease--overlapping pathways of vulnerability to neurological disorder?

artículo científico publicado en 2011

DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling

artículo científico publicado en 2005

DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder

artículo científico publicado en 2008

DISC1 at 10: connecting psychiatric genetics and neuroscience

artículo científico publicado en 2011

DISC1 in schizophrenia: genetic mouse models and human genomic imaging

artículo científico publicado en 2010

DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness

artículo científico publicado en 2018

DISC1, PDE4B, and NDE1 at the centrosome and synapse

scientific journal article

DISC1-binding proteins in neural development, signalling and schizophrenia ⬇️

artículo científico publicado el 31 de diciembre de 2010

DISC1: Structure, Function, and Therapeutic Potential for Major Mental Illness

artículo científico publicado en 2011

DNA Methylation Signatures of Depressive Symptoms in Middle-aged and Elderly Persons: Meta-analysis of Multiethnic Epigenome-wide Studies

article published in 2018

DNA sequence-level analyses reveal potential phenotypic modifiers in a large family with psychiatric disorders

Data integration in eHealth: a domain/disease specific roadmap.

artículo científico publicado en 2007

Developmental expression of orphan G protein-coupled receptor 50 in the mouse brain

artículo científico publicado en 2012

Differential global gene expression in cystic fibrosis nasal and bronchial epithelium

artículo científico publicado en 2011

Dinucleotide repeat polymorphism at the human olfactory marker protein (OMP) locus on chromosome 11q13.5 near tyrosinase (TYR).

artículo científico publicado en 1993

Directional dominance on stature and cognition in diverse human populations

artículo científico publicado en 2015

Discovery of novel heart rate-associated loci using the Exome Chip

artículo científico publicado en 2017

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

artículo científico publicado en 2020

Disrupted in Schizophrenia 1 (DISC1) is a multicompartmentalized protein that predominantly localizes to mitochondria

artículo científico publicado en 2004

Disrupted in schizophrenia 1 (DISC1): subcellular targeting and induction of ring mitochondria.

artículo científico publicado en 2005

Disrupted in schizophrenia 1 and phosphodiesterase 4B: towards an understanding of psychiatric illness

artículo científico publicado en 2007

Disruption of two novel genes by a translocation co-segregating with schizophrenia

artículo científico publicado en 2000

Distribution of Alu and L1 repeats in human YAC recombinants

artículo científico publicado el 1 de enero de 1992

EagI and NotI linking clones from human chromosomes 11 and Xp.

artículo científico publicado en 1996

EagI andNotI linking clones from human chromosomes 11 and Xp

Effects of gene copy number variants on personality and mood in ageing cohorts

article

Electronic health record and genome-wide genetic data in Generation Scotland participants.

artículo científico publicado en 2017

Electroporation enhances reporter gene expression following delivery of naked plasmid DNA to the lung.

artículo científico publicado en 2007

Elimination of contaminant Escherichia coli chromosomal DNA from preparations of P1 artifical chromosome recombinants facilitates directed subcloning

Elimination of contaminant Escherichia coli chromosomal DNA from preparations of P1 artificial chromosome recombinants facilitates directed subcloning

artículo científico publicado en 1999

Endothelial nitric oxide synthase polymorphisms do not influence pulmonary artery systolic pressure at altitude

article

Enhanced Lung Gene Expression After Aerosol Delivery of Concentrated pDNA/PEI Complexes

article

Enhancing the efficiency of introducing precise mutations into the mouse genome by hit and run gene targeting

artículo científico publicado en 2000

Epidemiology and Heritability of Major Depressive Disorder, Stratified by Age of Onset, Sex, and Illness Course in Generation Scotland: Scottish Family Health Study (GS:SFHS)

artículo científico publicado en 2015

Epigenetic prediction of complex traits and death

article by Daniel L McCartney et al published 27 September 2018 in Genome Biology

Epigenetic prediction of major depressive disorder

artículo científico publicado en 2020

Epigenetic signatures of starting and stopping smoking

artículo científico publicado en 2018

Epigenome-wide association study and multi-tissue replication of individuals with alcohol use disorder: evidence for abnormal glucocorticoid signaling pathway gene regulation

artículo científico publicado en 2020

Epigenome-wide association study of alcohol consumption in N = 8161 individuals and relevance to alcohol use disorder pathophysiology: identification of the cystine/glutamate transporter SLC7A11 as a top target

artículo científico publicado en 2021

Erratum: Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

artículo científico publicado en 2017

Evidence for large-scale gene-by-smoking interaction effects on pulmonary function.

artículo científico publicado en 2017

Evidence of inbreeding depression on human height

artículo científico publicado en 2012

Evidence that many of the DISC1 isoforms in C57BL/6J mice are also expressed in 129S6/SvEv mice

artículo científico publicado en 2007

Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts

artículo científico publicado en 2011

Evolutionary constraints on the Disrupted in Schizophrenia locus

artículo científico publicado en 2003

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

artículo científico publicado en 2016

Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants

artículo científico publicado en 2017

Exploring causality in the association between circulating 25-hydroxyvitamin D and colorectal cancer risk: a large Mendelian randomisation study

Face covering adherence is positively associated with better mental health and wellbeing: a longitudinal analysis of the CovidLife surveys

artículo científico publicado en 2021

Factors associated with sharing e-mail information and mental health survey participation in large population cohorts

artículo científico publicado en 2019

Feasibility and ethics of using data from the Scottish newborn blood spot archive for research

artículo científico publicado en 2022

Functional correction of episomal mutations with short DNA fragments and RNA-DNA oligonucleotides.

artículo científico publicado en 2002

GPR50 interacts with neuronal NOGO-A and affects neurite outgrowth

artículo científico publicado en 2009

GRIK4/KA1 protein expression in human brain and correlation with bipolar disorder risk variant status

artículo científico publicado en 2011

GWAS on family history of Alzheimer's disease.

artículo científico publicado en 2018

Gene Mappers at Cold Spring Harbor

artículo científico publicado en 1992

Gene targeting for somatic cell manipulation: rapid analysis of reduced chromosome hybrids by Alu-PCR fingerprinting and chromosome painting

artículo científico publicado el 1 de abril de 1992

Gene therapy for cystic fibrosis--where and when?

artículo científico publicado en 1993

Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci

scientific article published on 05 May 2020

Generation Scotland - Using Electronic Health Records for Research

article

Generation Scotland participant survey on data collection

artículo científico publicado en 2019

Generation Scotland: Donor DNA Databank; A control DNA resource

artículo científico publicado en 2010

Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritability

artículo científico publicado en 2006

Genes and schizophrenia: beyond schizophrenia: the role of DISC1 in major mental illness

artículo científico publicado en 2006

Genes from a translational analysis support a multifactorial nature of white matter hyperintensities

artículo científico publicado en 2015

Genetic and Environmental Risk for Chronic Pain and the Contribution of Risk Variants for Major Depressive Disorder: A Family-Based Mixed-Model Analysis

artículo científico publicado en 2016

Genetic and environmental determinants of stressful life events and their overlap with depression and neuroticism

Genetic and environmental determinants of stressful life events and their overlap with depression and neuroticism

artículo científico publicado en 2018

Genetic and environmental risk for chronic pain and the contribution of risk variants for psychiatric disorders. Results from Generation Scotland: Scottish Family Health Study and UK Biobank

article

Genetic and shared couple environmental contributions to smoking and alcohol use in the UK population

Genetic and shared couple environmental contributions to smoking and alcohol use in the UK population

artículo científico publicado en 2019

Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease

artículo científico publicado en 2012

Genetic causality in schizophrenia and bipolar disorder: out with the old and in with the new.

artículo científico publicado en 2008

Genetic comorbidity between major depression and cardio-metabolic traits, stratified by age at onset of major depression

artículo científico publicado en 2020

Genetic contributions to stability and change in intelligence from childhood to old age.

artículo científico publicado en 2012

Genetic contributions to two special factors of neuroticism are associated with affluence, higher intelligence, better health, and longer life

article

Genetic copy number variation and general cognitive ability

artículo científico publicado en 2012

Genetic mechanisms of critical illness in Covid-19

scientific article published on 11 December 2020

Genetic parameters for periodontal disease: an analysis of electronic dental treatment records linked to pedigree, genomic, sociodemographic and clinical data

Genetic predictors of fibrin D-dimer levels in healthy adults

artículo científico publicado en 2011

Genetic stratification of depression by neuroticism: revisiting a diagnostic tradition

artículo científico publicado en 2019

Genetic stratification of depression in UK Biobank

scientific article published on 24 May 2020

Genetic survival analysis of age-at-onset of bipolar disorder: evidence for anticipation or cohort effect in families.

artículo científico publicado en 2001

Genetic variants linked to education predict longevity

artículo científico publicado en 2016

Genetic variation in Hyperpolarization-activated cyclic nucleotide-gated channels and its relationship with neuroticism, cognition and risk of depression

artículo científico publicado en 2012

Genetics of schizophrenia and bipolar affective disorder: strategies to identify candidate genes.

artículo científico publicado en 2003

Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

artículo científico publicado en 2015

Genome-Wide Meta-Analyses Of Stratified Depression In Generation Scotland And UK Biobank

article

Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium

artículo científico publicado en 2016

Genome-wide Regional Heritability Mapping Identifies a Locus Within the TOX2 Gene Associated With Major Depressive Disorder

artículo científico publicado en 2016

Genome-wide analysis identifies molecular systems and 149 genetic loci associated with income

artículo científico publicado en 2019

Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability

scientific article published on 07 January 2021

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

artículo científico publicado en 2017

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.

artículo científico publicado en 2018

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

artículo científico publicado en 2017

Genome-wide association analysis identifies six new loci associated with forced vital capacity

artículo científico publicado en 2014

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

artículo científico publicado en 2011

Genome-wide association study identifies 74 loci associated with educational attainment

artículo científico publicado en 2016

Genome-wide association study identifies five loci associated with lung function

artículo científico publicado en 2010

Genome-wide association study of alcohol consumption and genetic overlap with other health-related traits in UK Biobank (N=112,117)

article

Genome-wide association study of antidepressant treatment resistance in a population-based cohort using health service prescription data and meta-analysis with GENDEP

article

Genome-wide association uncovers shared genetic effects among personality traits and mood states

artículo científico publicado en 2012

Genome-wide haplotype-based association analysis of major depressive disorder in Generation Scotland and UK Biobank.

artículo científico publicado en 2017

Genome-wide meta-analyses of stratified depression in Generation Scotland and UK Biobank.

artículo científico publicado en 2018

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

artículo científico publicado en 2017

Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions

artículo científico publicado en 2019

Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.: Supplementary Information

Genome-wide methylation data improves dissection of the effect of smoking on body mass index

artículo científico publicado en 2021

Genome-wide methylation data improves dissection of the effect of smoking on body mass index

artículo científico publicado en 2020

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

artículo científico publicado en 2017

Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium

artículo científico publicado en 2014

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

artículo científico publicado en 2016

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

artículo científico publicado en 2017

Genomic analysis of family data reveals additional genetic effects on intelligence and personality

article

Genomic analysis of family data reveals additional genetic effects on intelligence and personality.

artículo científico publicado en 2018

Genomic sequence analysis of Fugu rubripes CFTR and flanking genes in a 60 kb region conserving synteny with 800 kb of human chromosome 7.

artículo científico publicado en 2000

Genomic structure and localisation within a linkage hotspot of Disrupted In Schizophrenia 1, a gene disrupted by a translocation segregating with schizophrenia.

artículo científico publicado en 2001

HIV-1 Tat protein transduction domain peptide facilitates gene transfer in combination with cationic liposomes.

artículo científico publicado en 2004

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

artículo científico publicado en 1987

Haplotype Analysis and a Novel Allele-Sharing Method Refines a Chromosome 4p Locus Linked to Bipolar Affective Disorder

article

Haplotype-based association analysis of general cognitive ability in Generation Scotland, the English Longitudinal Study of Ageing, and UK Biobank

artículo científico publicado en 2017

High frequency gene targeting using insertional vectors

artículo científico publicado en 1993

High-resolution localization of 69 potential human zinc finger protein genes: A number are clustered

article

Hitch-hiking from HRAS1 to the WAGR locus with CMGT markers.

artículo científico publicado en 1988

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

artículo científico publicado en 2015

How DISC1 regulates postnatal brain development: girdin gets in on the AKT.

artículo científico publicado en 2009

Hras1-selected, chromosome-mediated transformants vary in phenotypein vitro and tumorigenic potentialin vivo

artículo científico publicado en 1986

Human repeat-mediated integration of selectable markers into somatic cell hybrids.

artículo científico publicado en 1995

Human-mouse hybrids carrying fragments of single human chromosomes selected by tumor growth

artículo científico publicado en 1989

Human-specific cystic fibrosis transmembrane conductance regulator antibodies detect in vivo gene transfer to ovine airways

artículo científico

Identification of common variants associated with human hippocampal and intracranial volumes

artículo científico publicado en 2012

Identification of novel differentially methylated sites with potential as clinical predictors of impaired respiratory function and COPD

artículo científico publicado en 2019

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.

artículo científico publicado en 2001

Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing

scientific article published on 23 August 2019

In silico identification of transcripts and SNPs from a region of 4p linked with bipolar affective disorder

scientific article published on 01 August 2000

Insulin resistance: Genetic associations with depression and cognition in population based cohorts

scientific article published on 06 April 2019

Investigating shared aetiology between type 2 diabetes and major depressive disorder in a population based cohort

artículo científico publicado el 2 de agosto de 2016

Investigating the possible causal association of smoking with depression and anxiety using Mendelian randomisation meta-analysis: the CARTA consortium

artículo científico publicado en 2014

Investigating the relationship between DNA methylation age acceleration and risk factors for Alzheimer's disease

artículo científico publicado en 2018

Isoform-selective susceptibility of DISC1/phosphodiesterase-4 complexes to dissociation by elevated intracellular cAMP levels.

artículo científico publicado en 2007

Isolation and characterization of the mouse translin-associated protein X (Trax) gene

artículo científico publicado en 2000

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

artículo científico publicado en 2015

Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

artículo científico publicado en 2017

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

artículo científico publicado en 2015

Limitations of the murine nose in the development of nonviral airway gene transfer.

artículo científico

Long-range structure of H-ras 1-selected transgenomes.

artículo científico publicado en 1989

Lung clearance index is a sensitive, repeatable and practical measure of airways disease in adults with cystic fibrosis

scientific article published on 03 August 2007

Lung disease in the cystic fibrosis mouse exposed to bacterial pathogens

scientific article published on 01 April 1995

Markers close to the dopamine D5 receptor gene (DRD5) show significant association with schizophrenia but not bipolar disorder

artículo científico publicado en 2001

Measurement of serum calprotectin in stable patients predicts exacerbation and lung function decline in cystic fibrosis

artículo científico publicado en 2015

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

artículo científico publicado en 2015

Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder

artículo científico publicado en 2015

Meta-analysis of exome array data identifies six novel genetic loci for lung function

scientific article published on 12 January 2018

Meta-analysis of exome array data identifies six novel genetic loci for lung function

Methylome-wide association study of antidepressant use in Generation Scotland and the Netherlands Twin Register implicates the innate immune system

artículo científico publicado en 2021

Methylome-wide association study of early life stressors and adult mental health

artículo científico publicado en 2022

Modelling cystic fibrosis in the mouse

artículo científico publicado en 1995

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

scientific article published on 21 May 2020

Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

artículo científico publicado en 2019

Multi-ethnic genome-wide association study for atrial fibrillation

article

Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder

artículo científico publicado en 2000

NDE1 and NDEL1: multimerisation, alternate splicing and DISC1 interaction

artículo científico publicado en 2008

New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders

scientific article published on 29 July 2019

New gene functions in megakaryopoiesis and platelet formation

artículo científico publicado en 2011

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

artículo científico publicado en 2019

New genetic signals for lung function highlight pathways and pleiotropy, and chronic obstructive pulmonary disease associations across multiple ancestries

scholarly article published 12 June 2018

Ninety-nine independent genetic loci influencing general cognitive function include genes associated with brain health and structure (N = 280,360)

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

artículo científico publicado en 2014

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

artículo científico publicado en 2018

Novel transcribed sequences represented in the complex genomic region 5q13.

artículo científico publicado en 1996

Optimizing aerosol gene delivery and expression in the ovine lung

artículo científico

PKA phosphorylation of NDE1 is DISC1/PDE4 dependent and modulates its interaction with LIS1 and NDEL1

artículo científico publicado en 2011

Parent of origin genetic effects on methylation in humans are common and influence complex trait variation

artículo científico publicado en 2019

Pedigree- and SNP-Associated Genetics and Recent Environment are the Major Contributors to Anthropometric and Cardiometabolic Trait Variation

artículo científico publicado en 2016

Pharmaco-epidemiology of antidepressant exposure in a UK cohort record-linkage study

scientific article published on 27 February 2019

Phenotypic and genetic analysis of cognitive performance in Major Depressive Disorder in the Generation Scotland: Scottish Family Health Study

artículo científico publicado en 2018

Polygenic risk for alcohol dependence associates with alcohol consumption, cognitive function and social deprivation in a population-based cohort

artículo científico publicado en 2015

Polygenic risk for coronary artery disease is associated with cognitive ability in older adults

artículo científico publicado en 2016

Polygenic risk for schizophrenia is associated with cognitive change between childhood and old age.

artículo científico publicado en 2013

Polygenic risk of ischemic stroke is associated with cognitive ability

artículo científico publicado en 2015

Potent stimulation of gene expression by histone deacetylase inhibitors on transiently transfected DNA.

artículo científico publicado en 2004

Power of direct vs. indirect haplotyping in association studies

artículo científico publicado en 2004

Pre-clinical evaluation of three non-viral gene transfer agents for cystic fibrosis after aerosol delivery to the ovine lung.

artículo científico

Psychosis and the level of mood incongruence in Bipolar Disorder are related to genetic liability for Schizophrenia

article published in 2017

Publisher Correction: Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

artículo científico publicado en 2019

Publisher Correction: Parent of origin genetic effects on methylation in humans are common and influence complex trait variation

artículo científico publicado en 2019

Rapid and quantitative detection of unique sequence donor DNA in extracts of cultured mammalian cells: an aid to chromosome mapping

scientific article published on 01 September 1985

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease

artículo científico publicado en 2016

Rare coding variants and X-linked loci associated with age at menarche

artículo científico publicado en 2015

Recent genomic heritage in Scotland

artículo científico publicado en 2015

Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer ⬇️

artículo científico publicado en 2015

Regional localisation of 19 brain expressed sequence tags to human chromosome 11 using PCR amplification of somatic cell hybrid DNAs

artículo científico publicado en 1995

Regional variation in health is predominantly driven by lifestyle rather than genetics

artículo científico publicado en 2017

Regulation of Adenovirus-Mediated Elafin Transgene Expression by Bacterial Lipopolysaccharide

article

Relationship of catechol-O-methyltransferase variants to brain structure and function in a population at high risk of psychosis.

artículo científico publicado en 2006

Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial.

artículo científico publicado en 2015

Residual cftr expression varies with age in cftr(tm1Hgu) cystic fibrosis mice: impact on morphology and physiology

artículo científico publicado en 2002

Response to Amar J. Klar: The Chromosome 1;11 Translocation Provides the Best Evidence Supporting Genetic Etiology for Schizophrenia and Bipolar Affective Disorders

artículo científico

Response to Amar J. Klar: The chromosome 1;11 translocation provides the best evidence supporting genetic etiology for schizophrenia and bipolar affective disorders.

artículo científico publicado en 2003

Rethinking the genetic architecture of schizophrenia.

artículo científico publicado en 2010

Revisiting the mouse lung model for CF.

artículo científico publicado en 2004

Role of DISC1 in neural development and schizophrenia

artículo científico publicado en 2007

RuralCovidLife: A new resource for the impact of the pandemic on rural Scotland

artículo científico publicado en 2022

SELDI-TOF biomarker signatures for cystic fibrosis, asthma and chronic obstructive pulmonary disease

artículo científico publicado en 2009

SNP genotyping on pooled DNAs: comparison of genotyping technologies and a semi automated method for data storage and analysis.

artículo científico publicado en 2002

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

artículo científico publicado en 2016

SOX11 target genes: implications for neurogenesis and neuropsychiatric illness.

article

SUSPECTS: enabling fast and effective prioritization of positional candidates

artículo científico publicado en 2006

SV40-mediated tumor selection and chromosome transfer to enrich for cystic fibrosis region

artículo científico publicado en 1990

Schizophrenia and affective disorders--cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family.

artículo científico publicado en 2001

Segmentation of the anterior thalamic radiation using neighbourhood tractography

Self-reactive CFTR T cells in humans: implications for gene therapy.

scientific article published on 19 July 2013

Sendai virus-mediated CFTR gene transfer to the airway epithelium.

artículo científico publicado en 2007

Sero-prevalence and incidence of A/H1N1 2009 influenza infection in Scotland in winter 2009-2010

artículo científico publicado en 2011

Socioeconomic Deprivation: An Important, Largely Unrecognized Risk Factor in Primary Prevention of Cardiovascular Disease

Speeding disease gene discovery by sequence based candidate prioritization

artículo científico publicado en 2005

Splinkerettes--improved vectorettes for greater efficiency in PCR walking.

artículo científico publicado en 1995

Sputum Trace Metals Are Biomarkers of Inflammatory and Suppurative Lung Disease

article

Sputum and serum calprotectin are useful biomarkers during CF exacerbation

artículo científico publicado en 2010

Sputum proteomics in inflammatory and suppurative respiratory diseases

artículo científico publicado en 2008

Structural Brain MRI Trait Polygenic Score Prediction of Cognitive Abilities

artículo científico publicado en 2015

Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation

artículo científico publicado en 2009

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function ⬇️

artículo científico publicado en 2018

Subcellular targeting of DISC1 is dependent on a domain independent from the Nudel binding site.

artículo científico publicado en 2005

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

artículo científico publicado en 2019

TeenCovidLife: a resource to understand the impact of the COVID-19 pandemic on adolescents in Scotland

artículo científico publicado en 2022

The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects

artículo científico publicado en 2010

The DISC1 pathway modulates expression of neurodevelopmental, synaptogenic and sensory perception genes

artículo científico publicado en 2009

The DISC1 promoter: characterization and regulation by FOXP2.

artículo científico publicado en 2012

The Lothian Birth Cohort 1936: a study to examine influences on cognitive ageing from age 11 to age 70 and beyond

artículo científico publicado en 2007

The NPAS3 gene--emerging evidence for a role in psychiatric illness

artículo científico publicado en 2006

The PDE4B gene confers sex-specific protection against schizophrenia.

artículo científico publicado en 2007

The Stratification Of Major Depressive Disorder Into Genetic Subgroups

scholarly article published 5 May 2017

The effects of DISC1 risk variants on brain activation in controls, patients with bipolar disorder and patients with schizophrenia

article

The effects of a neuregulin 1 variant on white matter density and integrity

artículo científico publicado en 2007

The effects of plasmid copy number and sequence context upon transfection efficiency

artículo científico publicado en 2004

The generation of ordered sets of cosmid DNA clones from human chromosome region 11p

artículo científico publicado en 1992

The influence of X chromosome variants on trait neuroticism

article

The mitosis and neurodevelopment proteins NDE1 and NDEL1 form dimers, tetramers, and polymers with a folded back structure in solution.

artículo científico publicado en 2012

The relationship of anterior thalamic radiation integrity to psychosis risk associated neuregulin-1 variants.

artículo científico publicado en 2009

The role of ECE1 variants in cognitive ability in old age and Alzheimer's disease risk.

artículo científico publicado en 2012

The safety profile of a cationic lipid-mediated cystic fibrosis gene transfer agent following repeated monthly aerosol administration to sheep.

artículo científico publicado en 2013

The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics

artículo científico publicado en 2002

Timing, rates and spectra of human germline mutation

artículo científico publicado en 2015

Towards gene therapy for cystic fibrosis: a clinical progress report.

artículo científico publicado en 1998

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

artículo científico publicado en 2016

Transcriptional regulation of neurodevelopmental and metabolic pathways by NPAS3.

artículo científico publicado en 2011

Transfection efficiency and toxicity following delivery of naked plasmid DNA and cationic lipid–DNA complexes to ovine lung segments ⬇️

artículo científico publicado el 1 de octubre de 2003

Translational neuroscience of schizophrenia: seeking a meeting of minds between mouse and man.

artículo científico publicado en 2011

Tripod-like cationic lipids as novel gene carriers

artículo científico publicado en 2008

Two-back makes step forward in brain imaging genomics

artículo científico publicado en 2014

Using a knowledge exchange event to assess study participants' attitudes to research in a rapidly evolving research context

artículo científico publicado en 2020

Validation of Surrogates of Urine Osmolality in Population Studies

artículo científico publicado en 2017

Variants in doublecortin- and calmodulin kinase like 1, a gene up-regulated by BDNF, are associated with memory and general cognitive abilities

scientific article published on 21 October 2009

Variation in DISC1 is associated with anxiety, depression and emotional stability in elderly women.

artículo científico publicado en 2010

Whole genome association scan for genetic polymorphisms influencing information processing speed

artículo científico publicado en 2010

Yeast two-hybrid screens implicate DISC1 in brain development and function

artículo científico publicado en 2003

mc1r Pathway regulation of zebrafish melanosome dispersion

artículo científico publicado en 2008

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