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List of works by 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

scientific article

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

scientific article published in February 2001

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

scientific article published on 02 May 2016

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

scientific article published on December 2015

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

scientific article published on 17 June 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

scientific article published on 01 October 1989

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 18 November 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

scientific article

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

scientific article

A series of vectors that simplify mammalian gene targeting

scientific article published on 01 July 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

scientific article

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

scientific article published on 11 December 2012

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

scientific article published on 26 August 2015

Accelerated Epigenetic Ageing in Major Depressive Disorder

scholarly article published 28 October 2017

Alu-based vectorettes and splinkerettes

scientific article published on 01 January 1994

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

scientific article published on 8 January 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.

scientific article

Alzheimer′s Disease Genes Are Associated with Measures of Cognitive Ageing in the Lothian Birth Cohorts of 1921 and 1936 ⬇️

scientific article published on June 12, 2011

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

scientific article

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

scientific article published on 21 November 2008

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 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.

scientific article published on 23 October 2008

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

scientific article published in January 2007

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

scientific article

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

scientific article

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.

scientific article published in November 2005

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

scientific article published on 29 August 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

scientific article published on 08 June 2020

Behavioral phenotypes of Disc1 missense mutations in mice

scientific article

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

scientific article

Birth weight associations with DNA methylation differences in an adult population

scientific article published on 20 October 2020

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

scientific article published on 29 September 2017

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

scientific article (publication date: March 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

scholarly article

Chromosomal abnormalities and mental illness.

scientific article

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.

scientific article

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

scientific article published on 01 March 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

scientific article published in 2019

Coincident sequence cloning: a new approach to genome analysis.

scientific article

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

scientific article

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

scientific article published on 26 February 2018

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

scientific article

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

scientific article

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

scientific article published on January 1, 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

scientific article

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

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

scientific article

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

scientific article published on 23 August 2017

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

scientific article published on 14 February 2017

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

scientific article published on 01 September 1997

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

scientific article published in September 2017

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

scientific article published on 17 December 2015

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

scientific article published on 7 July 2021

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

scientific article published on 27 April 2008

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

scientific article published on June 1994

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

scientific article published on June 2015

Cystic fibrosis lung infection cleared up? ⬇️

scientific article published on 01 December 1997

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

scientific article published in The Lancet

Cystic fibrosis--the way forward from the gene

scientific article published on February 1, 1991

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

scientific article published on January 1991

Cystic fibrosis: five years beyond the gene

scientific article published on January 1995

Cystic fibrosis: from linked markers to the gene

article

Cystic fibrosis: prospects for therapy

scientific article

Cytogenetics and gene discovery in psychiatric disorders.

scientific article

DISC1 PATHWAY EXPRESSION IN MOUSE AND MAN

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

scientific article

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

scientific article

DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder

scientific article published on 4 March 2008

DISC1 at 10: connecting psychiatric genetics and neuroscience

scientific article

DISC1 in schizophrenia: genetic mouse models and human genomic imaging

scientific article

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

scientific article published on 06 September 2018

DISC1 variants 37W and 607F disrupt its nuclear targeting and regulatory role in ATF4-mediated transcription ⬇️

scientific article published on March 15, 2012

DISC1, PDE4B, and NDE1 at the centrosome and synapse

scientific journal article

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

scientific article published on December 31, 2010

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

scientific article published on August 5, 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.

scientific article

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

scientific article

Differential global gene expression in cystic fibrosis nasal and bronchial epithelium

scientific article published on 2 July 2011

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

scientific article published in June 1993

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

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

scientific article

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

scientific article published on 23 November 2020

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

scientific article

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

scientific article

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

scientific article published on 06 September 2007

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

scientific article (publication date: 22 May 2000)

Distribution of Alu and L1 repeats in human YAC recombinants

scientific article published on January 1, 1992

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

scientific article published on June 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.

scientific article published on 18 September 2017

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

scientific article published in May 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

scientific article published on 01 June 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

scientific article

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)

scientific article published on 16 November 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

scientific article published on 10 June 2020

Epigenetic signatures of starting and stopping smoking

scientific article published on 30 October 2018

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

scientific article published on 12 May 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

scientific article published on 02 December 2021

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

scientific article published in July 2017

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

scientific article

Evidence of inbreeding depression on human height

scientific article

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

scientific article published on 01 October 2007

Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts

scientific article published on 2 November 2011

Evolutionary constraints on the Disrupted in Schizophrenia locus

scientific article (publication date: 2003)

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

scientific article published on 25 February 2016

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

scientific article

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

scientific article published on 18 March 2021

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

scientific article published on 01 July 2019

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

scientific article published in 2022

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

scientific article published on March 2002

GPR50 interacts with neuronal NOGO-A and affects neurite outgrowth

scientific article

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

scientific article

GWAS on family history of Alzheimer's disease.

scientific article

Gene Mappers at Cold Spring Harbor

scientific article published in Science

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

scientific article published on April 1, 1992

Gene therapy for cystic fibrosis--where and when?

scientific article

Gene therapy for cystic fibrosis: a psychosocial study of trial participants ⬇️

scientific article published on February 1, 1998

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

scientific article published on 25 July 2019

Generation Scotland: Donor DNA Databank; A control DNA resource

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 January 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

scientific article published on 25 November 2019

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

scientific article

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

scientific article published on June 2008

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

scientific article published on 18 July 2020

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

scientific article

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

scientific article

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

scientific article

Genetic stratification of depression by neuroticism: revisiting a diagnostic tradition

scientific article published on 02 October 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

scientific article published in September 2001

Genetic variants linked to education predict longevity

scientific article (publication date: 22 November 2016)

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

scientific article

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

scientific article published in January 2003

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

scientific article

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

scientific article published on 24 May 2016

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

scientific article published on 16 December 2016

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

scientific article published on 16 December 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

scientific article published on 6 February 2017

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

scientific article published on 26 April 2018

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

scientific article published on 30 January 2017

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

scientific article

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.

scientific article

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

scientific article published on 11 May 2016

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

scientific article

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

scientific article published on 24 May 2012

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

scientific article published on 30 November 2017

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

scientific article published on 10 January 2018

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

scientific article

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

scientific article published on 04 February 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

scientific article published in September 2021

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

scientific article published on 9 October 2020

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

scientific article published on 27 April 2017

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

scientific article

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

scientific article published on 23 September 2016

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

scientific article published on 24 April 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.

scientific article published on 10 January 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.

scientific article published on August 2000

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

scientific article published on March 2001

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

scientific article

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

scientific article published on 01 January 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

scientific article published on 10 August 2017

High frequency gene targeting using insertional vectors

scientific article published on 01 August 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.

scientific article published on January 1988

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

scientific article

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

scientific article published in September 2009

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

scientific article published on 01 October 1986

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

scientific article published on December 1995

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

scientific article published on 01 November 1989

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

scientific article published on 23 February 2006

Identification of common variants associated with human hippocampal and intracranial volumes

scientific article published on 15 April 2012

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

scientific article published on 29 March 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.

scientific article

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

Inclusion of cholesterol in DOTAP transfection complexes increases the delivery of DNA to cells in vitro in the presence of serum ⬇️

scientific article published on January 1, 1998

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

scientific article published on 02 August 2016

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

scientific article published on 7 October 2014

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

scientific article published on 21 June 2018

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

scientific article published on August 2007

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

scientific article published on May 2000

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

scientific article published in December 2015

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

scientific article

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

scientific article published in November 2015

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

scientific article published on 31 July 2009

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

scientific article published on May 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

scientific article (publication date: 8 March 2001)

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

scientific article published in January 2015

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

scientific article published on 11 September 2015

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

scientific article

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

scientific article published on 08 December 2021

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

scientific article published on 01 February 2022

Modelling cystic fibrosis in the mouse

scientific article published on June 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

scientific article published in Nature Communications

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

article

NDE1 and NDEL1: multimerisation, alternate splicing and DISC1 interaction

scientific article

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

scientific article published on 30 November 2011

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

scientific article published on 25 February 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

scientific article

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

scientific article published on 18 June 2018

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

scientific article published in August 1996

Optimizing aerosol gene delivery and expression in the ovine lung

scientific article published on February 2007

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

scientific article

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

scientific article published on 27 March 2019

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

scientific article published on 2 February 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

scientific article published on 13 March 2018

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

scientific article

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

scientific article published on 28 January 2016

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

scientific article published on 16 February 2013

Polygenic risk of ischemic stroke is associated with cognitive ability

scientific article

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

scientific article published in November 2004

Power of direct vs. indirect haplotyping in association studies

scientific article published in February 2004

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

scientific article published on 21 April 2011

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

scientific article published on 01 July 2019

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

scientific article published on 01 May 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

scientific article

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

scientific article

Recent genomic heritage in Scotland

scientific article

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

scientific article

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

scientific article published on 01 January 1995

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

scientific article published on 6 October 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.

scientific article published on 2 October 2006

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

scientific article

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

scientific article published in January 2002

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

article by J Kirsty Millar et al published 1 February 2003 in Genetics

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

scientific article published on February 2003

Rethinking the genetic architecture of schizophrenia.

scientific article published on 12 April 2010

Revisiting the mouse lung model for CF.

scientific article published on May 2004

Role of DISC1 in neural development and schizophrenia

scientific article published on 26 January 2007

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

scientific article published on 23 May 2022

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

scientific article

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

scientific article

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

scientific article published on 5 December 2016

SOX11 target genes: implications for neurogenesis and neuropsychiatric illness.

article

SUSPECTS: enabling fast and effective prioritization of positional candidates

scientific article published on 19 January 2006

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

scientific article published on January 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.

scientific article

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.

scientific article

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

scientific article

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

Speeding disease gene discovery by sequence based candidate prioritization

scientific article

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

scientific article

Sputum Trace Metals Are Biomarkers of Inflammatory and Suppurative Lung Disease

article

Sputum and serum calprotectin are useful biomarkers during CF exacerbation

scientific article published on 17 March 2010

Sputum proteomics in inflammatory and suppurative respiratory diseases

scientific article

Structural Brain MRI Trait Polygenic Score Prediction of Cognitive Abilities

scientific article published on 2 October 2015

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

scientific article

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

scientific article published on 29 May 2018

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

scientific article

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

scientific article published on 02 October 2019

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

scientific article published in 2022

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

scientific article

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

scientific article published in 2009

The DISC1 promoter: characterization and regulation by FOXP2.

scientific article

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

scientific article

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

scientific article

The PDE4B gene confers sex-specific protection against schizophrenia

scientific article published in June 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

scientific article published on 09 October 2007

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

scientific article published on 01 January 2004

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

scientific article published on 01 May 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.

scientific article

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

scientific article

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

scientific article published on 12 June 2012

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

scientific article published on 3 October 2013

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

scientific article

Timing, rates and spectra of human germline mutation

scientific article published on 14 December 2015

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

scientific article

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

scientific article published on 12 September 2016

Transcriptional regulation of neurodevelopmental and metabolic pathways by NPAS3.

scientific article published on 28 June 2011

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

scientific article published on October 1, 2003

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

scientific article

Tripod-like cationic lipids as novel gene carriers

scientific article

Two-back makes step forward in brain imaging genomics

scientific article published in March 2014

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

scientific article published on 10 February 2020

Validation of Surrogates of Urine Osmolality in Population Studies

scientific article published on 7 June 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.

scientific article published in March 2010

Whole genome association scan for genetic polymorphisms influencing information processing speed

scientific article published on 3 December 2010

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

scientific article (publication date: 28 November 2003)

mc1r Pathway regulation of zebrafish melanosome dispersion

scientific article

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