D. Porteous

D J Porteous, D. Blackwood, W. Muir, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

YAC mapping by FISH using Alu-PCR-generated probes.

D. Porteous, B. Arveiler, J. Gosden, 1992, Genomics.

Adenoviral Augmentation of Elafin Protects the Lung Against Acute Injury Mediated by Activated Neutrophils and Bacterial Infection1

D. Porteous, C. Haslett, J. Sallenave, 2001, The Journal of Immunology.

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

D. Blackwood, W. Muir, B. Pickard, 2004, BMC Medical Genetics.

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

D. Blackwood, W. Muir, B. Pickard, 2004, BMC Medical Genetics.

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

D. Porteous, D. Soares, P. Barlow, 2009, Journal of molecular modeling.

DNA methylation proxies for 16 plasma proteins predict the incidence of 7 leading causes of morbidity

R. Marioni, P. Visscher, A. McRae, 2020 .

Jimmy D Bell, P. Elliott, M. Jarvelin, 2019, Nature Human Behaviour.

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

Blair H. Smith, N. Wray, I. Deary, 2017, Biological Psychiatry.

mc1r Pathway regulation of zebrafish melanosome dispersion.

I. Jackson, D. Porteous, P. Lundegaard, 2008, Zebrafish.

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

Ian J. Deary, Archie Campbell, Sergi Castellví-Bel, 2015, Scientific Reports.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Sputum trace metals are biomarkers of inflammatory and suppurative lung disease.

D. Porteous, R. Gray, J. Innes, 2010, Chest.

A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

John P. Rice, P. O’Reilly, P. Visscher, 2020, Nature Communications.

Partial deletion of chromosome 11p in breast cancer correlates with size of primary tumour and oestrogen receptor level.

C. M. Steel, D. J. Porteous, D. Porteous, 1988, British Journal of Cancer.

The Trans-Ancestral Genomic Architecture of Glycemic Traits

Stephen C. J. Parker, Tanya M. Teslovich, Anne W. Ndungu, 2020, Nature Genetics.

Erratum: Common genetic variants associated with cognitive performance identified using the proxy-phenotype method (Proc Natl Acad Sci USA (2014) 111 (13790-13794) DOI: 10.1073/pnas.1404623111)

Lude Franke, Ian J. Deary, Robert Plomin, 2015 .

MEK Inhibitors Reverse cAMP-Mediated Anxiety in Zebrafish

Rowland R. Sillito, J. D. Armstrong, D. Porteous, 2015, Chemistry & biology.

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

D. Porteous, D. Soares, B. Carlyle, 2011, ACS chemical neuroscience.

Evaluation in vitro and in vivo of cationic liposome-expression construct complexes for cystic fibrosis gene therapy.

D. Porteous, D. Davidson, J. Dorin, 1995, Gene therapy.

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

Till F. M. Andlauer, N. Wray, I. Deary, 2020, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Loss of SORCS2 is Associated with Neuronal DNA Double-Strand Breaks.

D. Porteous, K. Evans, T. Spires-Jones, 2021, Cellular and molecular neurobiology.

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

D. Porteous, J. Davies, M. Hasegawa, 2012, American journal of respiratory and critical care medicine.

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

Lorna M. Lopez, I. Deary, D. Porteous, 2011 .

Chronic obstructive pulmonary disease and related phenotypes: polygenic risk scores in population-based and case-control cohorts

Blair H. Smith, Woo Jin Kim, M. Jarvelin, 2020, The Lancet. Respiratory medicine.

Lifestyle and Genetic Factors Modify Parent-of-Origin Effects on the Human Methylome

A. McIntosh, S. Morris, D. Porteous, 2021, bioRxiv.

Epigenetic prediction of major depressive disorder

R. Marioni, I. Deary, H. Whalley, 2020, Molecular Psychiatry.

Epigenetic prediction of major depressive disorder

R. Marioni, I. Deary, H. Whalley, 2019, Molecular Psychiatry.

Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

Epigenome‐wide analyses identify DNA methylation signatures of dementia risk

R. Marioni, K. Rawlik, A. McIntosh, 2020, Alzheimer's & dementia.

Assessment of DNA methylation differences between carriers of APOE ε4 and APOE ε2

R. Marioni, K. Rawlik, A. McIntosh, 2019 .

Recent genomic heritage in Scotland

N. Hastie, D. Porteous, C. Haley, 2015, BMC Genomics.

Data Resource Profile: Generation Scotland Electronic Health Record

A. McIntosh, D. Porteous, C. Hayward, 2017 .

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

A. McIntosh, D. Porteous, C. Hayward, 2017, bioRxiv.

Contribution of common risk variants to multiple sclerosis in Orkney and Shetland

D. Porteous, C. Hayward, P. Joshi, 2021, European Journal of Human Genetics.

Genetic Predictors of Fibrin D-Dimer Levels in Healthy Adults

Christian Gieger, Ian J. Deary, Jie Huang, 2011, Circulation.

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

Claude Bouchard, Christian Gieger, Tuija Tammelin, 2017 .

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

Andrew D. Johnson, Stephanie A. Bien, Paula J. Griffin, 2017, PLoS genetics.

Detection of CFTR transgene mRNA expression in respiratory epithelium isolated from the murine nasal cavity

D. Porteous, R. Scheule, Seng H. Cheng, 2010, The journal of gene medicine.

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

K. Davies, A. Brookes, D. Porteous, 1996, Biochimica et biophysica acta.

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

A. Hofman, A. Uitterlinden, D. Levy, 2016, PLoS genetics.

Sex Differences in Cardiac Troponin I and T and the Prediction of Cardiovascular Events in the General Population

A. Tsanas, D. Porteous, C. Hayward, 2021, Clinical chemistry.

An epigenetic score for BMI based on DNA methylation correlates with poor physical health and major disease in the Lothian Birth Cohort 1936

R. Marioni, A. McRae, I. Deary, 2018, bioRxiv.

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

D. Porteous, J. Millar, E. Malavasi, 2012, Human molecular genetics.

DISC 1 variants 37 W and 607 F disrupt its nuclear targeting and regulatory role in ATF 4-mediated transcription

D. Porteous, J. Millar, V. Malavasi, 2012 .

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study

Blair H. Smith, A. Dominiczak, A. Morris, 2014, BMC Medical Genetics.

Association of low-frequency and rare coding variants with information processing speed

Blair H. Smith, R. Marioni, J. Bressler, 2016, Alzheimer's & Dementia.

Self-reported medication use validated through record linkage to national prescribing data

S. Lawrie, A. McIntosh, D. Porteous, 2017, Journal of clinical epidemiology.

Explorer DISC 1 : Structure , Function , and Therapeutic Potential for Major Mental Illness

D. Porteous, D. Soares, B. Carlyle, 2011 .

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

N. Hastie, D. Porteous, C. Haley, 2017, PLoS genetics.

How data science can advance mental health research (Forthcoming)

Zina M. Ibrahim, R. Dobson, A. McIntosh, 2018 .

Identification and characterization of a homozygous deletion found in ovarian ascites by representational difference analysis.

D. Porteous, H. Gabra, Harris Morrison, 1999, Genome research.

Hras1‐selected, chromosome‐mediated transformants vary in phenotype in vitro and tumorigenic potential in vivo

D. Porteous, C. M. Steel, G. Cranston, 1986, International journal of cancer.

Molecular and physical arrangements of human DNA in HRAS1-selected, chromosome-mediated transfectants

D. Porteous, N. Hastie, V. van Heyningen, 1986, Molecular and cellular biology.

Gene mapping and physical arrangements of human chromatin in transformed, hybrid cells: Fluorescent and autoradiographic in situ hybridization compared

D. Porteous, P. Ambros, J. Gosden, 1986, Somatic cell and molecular genetics.

THE GENETICS AND BIOLOGY OF DISC1

D. Porteous, 2008, Schizophrenia Research.

Genetic stratification of depression by neuroticism

I. Deary, A. McIntosh, D. Porteous, 2019 .

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

I. Deary, M. Bastin, D. Porteous, 2012, Behavior Genetics.

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

I. Deary, M. Hotopf, A. McIntosh, 2019, International journal of epidemiology.

Conclusions : Re-contact availability and follow-up participation can act as further genetic filters for data on mental health phenotypes

I. Deary, M. Hotopf, A. McIntosh, 2019 .

Erratum: PGBD5 promotes site-specific oncogenic mutations in human tumors

P. O’Reilly, P. Elliott, D. Levy, 2017, Nature Genetics.

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

Tyrone D. Cannon, B. Lipska, J. Roder, 2007, Molecular Psychiatry.

Behavioral Phenotypes of Disc1 Missense Mutations in Mice

John G. Sled, David J. Porteous, R. Mark Henkelman, 2007, Neuron.

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

J. Roder, D. Blackwood, W. Muir, 2017 .

Synaptic modulators Nrxn1 and Nrxn3 are disregulated in a Disc1 mouse model of schizophrenia

J. Roder, D. Porteous, K. Evans, 2011, Molecular Psychiatry.

DISC1, PDE4B, and NDE1 at the centrosome and synapse.

Jennifer E. Chubb, D. Porteous, J. Millar, 2008, Biochemical and biophysical research communications.

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

J. Roder, D. Blackwood, W. Muir, 2007, The Journal of physiology.

The Genetics and Biology of Disc1—An Emerging Role in Psychosis and Cognition

David J. Porteous, Nicholas J. Brandon, D. Porteous, 2006, Biological Psychiatry.

DISC1 complexes with TRAK1 and Miro1 to modulate anterograde axonal mitochondrial trafficking

D. Porteous, D. Soares, J. Millar, 2013, Human molecular genetics.

DISC1complexeswithTRAK1andMiro1tomodulate anterograde axonal mitochondrial trafficking

D. Porteous, D. Soares, J. Millar, 2014 .

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

D. Porteous, J. Millar, S. Christie, 2011, Molecular Psychiatry.

Corrigendum to ''DISC1, PDE4B, and NDE1 at the centrosome and synapse" (Biochem. Biophys. Res. Commun. 377 (2008) 1091-1096)

D. Porteous, J. Millar, S. Christie, 2009 .

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

Yoav Ben-Shlomo, Eric Boerwinkle, Nilesh J Samani, 2012, American journal of human genetics.

Molecular analysis of the aniridia--Wilms' tumor syndrome.

D. Porteous, W. Bickmore, J. Maule, 1988, Current topics in microbiology and immunology.

Cystic fibrosis: from linked markers to the gene

D. Porteous, V. Heyningen, 1986 .

Sex-Differences in the Metabolic Health of Offspring of Parents with Diabetes: A Record-Linkage Study

Blair H. Smith, D. Porteous, A. Campbell, 2015, PloS one.

Coincident sequence cloning.

A. Brookes, D. Porteous, 1991, Nucleic acids research.

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

D. Porteous, W. Bickmore, J. Maule, 1989, Somatic cell and molecular genetics.

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

D. Porteous, M. Amaral, D. Penque, 2006, American journal of respiratory cell and molecular biology.

Comparison between High-Sensitivity Cardiac Troponin T and Cardiac Troponin I in a Large General Population Cohort.

M. Woodward, N. Sattar, D. Porteous, 2018, Clinical chemistry.

Directional dominance on stature and cognition in diverse human populations

Laura J. Scott, Claude Bouchard, Christian Gieger, 2015, Nature.

Edinburgh Research Explorer Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease

J. Gallacher, P. Visscher, I. Deary, 2018 .

A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.

A. Brookes, D. Porteous, K. Miyagawa, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Chromosome mediated gene transfer: a functional assay for complex loci and an aid to human genome mapping

D. Porteous, 1987 .

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

D. Porteous, 1985, Somatic cell and molecular genetics.

Protocols for Chromosome-Mediated Gene Transfer

D. Porteous, 1994 .

The genetics of cystic fibrosis lung disease

D. Porteous, D. Davidson, 1998, Thorax.

Genetics and pulmonary medicine. 1. The genetics of cystic fibrosis lung disease.

D. Porteous, D. Davidson, 1998, Thorax.

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

D. Porteous, D. Shaw, R. Scheule, 2011, Gene Therapy.

Restriction fragment length polymorphism analysis and assignment of the metalloproteinases stromelysin and collagenase to the long arm of chromosome 11.

D. Porteous, N. Spurr, J. Gosden, 1988, Genomics.

Correction: Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank

P. O’Reilly, A. Danese, P. Visscher, 2020, Molecular Psychiatry.

CFTR and calcium-activated chloride currents in pancreatic duct cells of a transgenic CF mouse.

D. Porteous, J. Dorin, J. Winpenny, 1994, The American journal of physiology.

Placement and Refined Mapping of Established and New Markers on Human Chromosome 11q Using a Small Panel of Somatic Cell Hybrids

D. Porteous, K. Evans, V. Heyningen, 1995, European journal of human genetics : EJHG.

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

D. Porteous, Seng H. Cheng, S. Hyde, 2003, Molecular therapy : the journal of the American Society of Gene Therapy.

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

Yadav Sapkota, Thomas Meitinger, Andres Metspalu, 2017, Nature Communications.

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

He Zhang, Andres Metspalu, Fotios Drenos, 2016, Nature Genetics.

Recombination patterns around the breakpoints of a balanced 1;11 autosomal translocation associated with major mental illness

W. Muir, A. Maclean, D. Porteous, 1996, Psychiatric genetics.

Sputum and serum calprotectin are useful biomarkers during CF exacerbation.

D. Porteous, R. Gray, J. Innes, 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019, Nature Communications.

Gene therapy for lung inflammatory diseases: not so far away?

D. Porteous, C. Haslett, J. Sallenave, 1997, Thorax.

The homeobox gene BARX2 can modulate cisplatin sensitivity in human epithelial ovarian cancer.

D. Porteous, H. Gabra, J. Smyth, 2002, International journal of oncology.

UK cystic fibrosis gene therapy consortium tracking study: Exhaled breath condensate pH increases with treatment of an infective exacerbation

D. Porteous, D. Geddes, R. Gray, 2007 .

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

Toshiko Tanaka, I. Deary, L. Ferrucci, 2015, Behavior Genetics.

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

D. Porteous, R. Gray, J. Innes, 2015, American journal of respiratory and critical care medicine.

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

David N Sheppard, Uta Griesenbach, David J Porteous, 2008, Nature Biotechnology.

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

D. Porteous, J. Davies, S. Hyde, 2015, American journal of respiratory and critical care medicine.

Toxicology study assessing efficacy and safety of repeated administration of lipid/DNA complexes to mouse lung

D. Porteous, R. Scheule, J. Davies, 2013, Gene Therapy.

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

D. Porteous, D. Shaw, R. Scheule, 2013, Biomaterials.

A randomised, double-blind, placebo-controlled phase IIB clinical trial of repeated application of gene therapy in patients with cystic fibrosis

D. Porteous, G. Murray, Seng H. Cheng, 2013, Thorax.

An immunocytochemical assay to detect human CFTR expression following gene transfer.

A. Nairn, D. Porteous, R. Gray, 2009, Molecular and cellular probes.

A demonstration using mouse models that successful gene therapy for cystic fibrosis requires only partial gene correction.

D. Porteous, B. Wainwright, J. Dorin, 1996, Gene therapy.

Selection for precise chromosomal targeting of a dominant marker by homologous recombination.

D. Porteous, J. Dorin, J. Inglis, 1989, Science.

HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.

D. Porteous, W. Bickmore, S. Christie, 1987, Proceedings of the National Academy of Sciences of the United States of America.

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.

D. Porteous, J. Gosden, 1987, Cytogenetics and cell genetics.

Genetic variants linked to education predict longevity

Stuart J. Ritchie, R. Marioni, I. Deary, 2016, Proceedings of the National Academy of Sciences.

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

D. Porteous, S. Cunningham, P. Gustafsson, 2007, Thorax.

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

Martin S. Taylor, D. Porteous, R. Willemsen, 2002, Human molecular genetics.

Oligonucleotide-primed in situ DNA synthesis (PRINS): a method for chromosome mapping, banding, and investigation of sequence organization.

D. Porteous, J. Gosden, J. Fantes, 1991, Cytogenetics and cell genetics.

Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.

D. Porteous, G. Spowart, V. van Heyningen, 1985, Proceedings of the National Academy of Sciences of the United States of America.

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.

Jaana M. Hartikainen, M. Beckmann, P. Fasching, 2021, The New England journal of medicine.

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

D. Porteous, X. Nan, Leaf Huang, 2004, Journal of controlled release : official journal of the Controlled Release Society.

Blood-based epigenome-wide analyses of cognitive abilities

R. Marioni, I. Deary, M. Bastin, 2021, medRxiv.

Early alterations in airway mucociliary clearance and inflammation of the lamina propria in CF mice.

D. Porteous, J. Zahm, J. Dorin, 1997, The American journal of physiology.

Inherited Chromosomally Integrated Human Herpesvirus 6 Genomes Are Ancient, Intact, and Potentially Able To Reactivate from Telomeres

R. Neumann, D. Porteous, G. Wilkie, 2017, Journal of Virology.

Human herpesviruses 6 A and 6 B ( HHV 6-A and HHV-6 B ; species Human herpesvirus 6 A and Human herpesvirus 6

R. Neumann, D. Porteous, G. Wilkie, 2017 .

What the papers say: Cystic fibrosis: Prospects for therapy

D. Porteous, E. Alton, 1993 .

Optimizing aerosol gene delivery and expression in the ovine lung.

D. Porteous, R. Scheule, Seng H. Cheng, 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

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

D. Porteous, James M. Wilson, J. Davies, 2013, Human gene therapy. Clinical development.

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

Benjamin B. Sun, Blair H. Smith, M. Jarvelin, 2019, Nature Genetics.

Genomic analyses identify hundreds of variants associated with age at menarche and 1 support a role for puberty timing in cancer risk 2

Maristella, E. Demerath, Toshiko Tanaka, 2017 .

Relationship of COMT variants to brain structure, function and risk of psychosis

Julie M. Hall, S. Lawrie, H. Whalley, 2006 .

BARX2 induces cadherin 6 expression and is a functional suppressor of ovarian cancer progression.

D. Porteous, H. Gabra, J. Smyth, 2001, Cancer research.

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

P. O’Reilly, P. Elliott, D. Levy, 2017, Nature Genetics.

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

D. Porteous, A. Carothers, J. Dorin, 1997, The European respiratory journal.

Rapid quantitation of gene therapy specific CFTR expression using the amplification refractory mutation system.

D. Porteous, P. Thorpe, P. H. Thorpe, 1999, BioTechniques.

Cystic fibrosis lung infection cleared up?

D. Porteous, D. Davidson, 1997, Nature Medicine.

Control of the Flux in the Arginine Pathway of Neurospora crassa: Effects of Co-ordinate Changes of Enzyme Concentration

H. Kacser, D. Porteous, H. Flint, 1986 .

NDE1 and NDEL1: Multimerisation, alternate splicing and DISC1 interaction

D. Porteous, D. Soares, J. Millar, 2009, Neuroscience Letters.

A long‐range restriction map across 3 Mb of the chromosome 11 breakpoint region of a translotion linked to schizophrenia: localization of the breakpoint and the search for neighbouring genes

D. Blackwood, W. Muir, D. Porteous, 1998, Psychiatric genetics.

Definition and refinement of a region of loss of heterozygosity at 11q23.3-q24.3 in epithelial ovarian cancer associated with poor prognosis.

D. Porteous, H. Gabra, J. Smyth, 1996, Cancer research.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Chin Yang Shapland, 2018, bioRxiv.

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

Steve Cunningham, Joseph Jacob, Sarah Sheard, 2015 .

Mapping of retrotransposon sequences in the unstable region surrounding the spinal muscular atrophy locus in 5q13.

K. Davies, A. Brookes, D. Porteous, 1995, Genomics.

Mosaic structural variation in children with developmental disorders

Tom R. Gaunt, Hashem A. Shihab, Blair H. Smith, 2015, Human molecular genetics.

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

Joanna M. Wardlaw, Mark E. Bastin, Ian J. Deary, 2012, Neurobiology of Aging.

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

W. Muir, D. Porteous, R. S. Devon, 2001, Molecular Psychiatry.

The Dementias Platform UK (DPUK) Data Portal

Ronan A Lyons, Matthew South, Paul M. Matthews, 2019, bioRxiv.

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

P F Little, D J Porteous, D. Porteous, 1992, Genomics.

Multi-ethnic genome-wide association study for atrial fibrillation

Jay A. Montgomery, Nathan A. Bihlmeyer, Henry J. Lin, 2018, Nature Genetics.

Genetic prediction of male pattern baldness

Stuart J. Ritchie, R. Marioni, I. Deary, 2016, bioRxiv.

Epigenetic scores for the circulating proteome replicate protein-disease predictions as tools for biomarker discovery

R. Marioni, C. Gieger, M. Waldenberger, 2021 .

Genetic stratification of depression in UK Biobank suggests a subgroup linked to age of natural menopause

N. Wray, T. Werge, P. Sullivan, 2019, bioRxiv.

The Stratification Of Major Depressive Disorder Into Genetic Subgroups

Blair H. Smith, I. Deary, H. Whalley, 2017 .

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

Ruben C. Arslan, I. Deary, A. McIntosh, 2017, bioRxiv.

A genome-wide haplotype association analysis of major depressive disorder identifies two genome-wide significant haplotypes

Blair H. Smith, Niamh M. Ryan, I. Deary, 2016 .

Blunted medial prefrontal cortico-limbic reward-related effective connectivity and depression

M. Delgado, S. Lawrie, H. Whalley, 2020, Brain : a journal of neurology.

Cystic fibrosis: Five years beyond the gene

D. Porteous, 1995, Journal of Inherited Metabolic Disease.

Regulation of adenovirus-mediated elafin transgene expression by bacterial lipopolysaccharide.

D. Porteous, C. Haslett, J. Sallenave, 2001, Human gene therapy.

Ultra-High-Throughput Clinical Proteomics Reveals Classifiers of COVID-19 Infection

Christoph B. Messner, Vadim Demichev, Aleksej Zelezniak, 2020, Cell Systems.

Speeding disease gene discovery by sequence based candidate prioritization

David J. Porteous, Richard R. Adams, Euan A. Adie, 2005, BMC Bioinformatics.

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

Karsten B. Sieber, Nicholette D. Palmer, Cassandra N. Spracklen, 2019, Nature Genetics.

Genetic stratification of depression in UK Biobank

N. Wray, T. Werge, P. Sullivan, 2020, Translational Psychiatry.

Does Childhood Trauma Moderate Polygenic Risk for Depression? A Meta-analysis of 5765 Subjects From the Psychiatric Genomics Consortium

John P. Rice, Warren W. Kretzschmar, Robert M. Maier, 2017, Biological Psychiatry.

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

Ian J. Deary, David M. Howard, David J. Porteous, 2017, bioRxiv.

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

Blair H. Smith, N. Wray, I. Deary, 2016 .

Rare genes of major effect in neuropsychiatric diseases

D. Blackwood, W. Muir, B. Pickard, 2007 .

Cytogenetics and gene discovery in psychiatric disorders

D. Blackwood, W. Muir, B. Pickard, 2005, The Pharmacogenomics Journal.

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

Tom R. Gaunt, James M. Eales, Dajiang J. Liu, 2020, Nature Genetics.

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

I. Deary, A. McIntosh, D. Porteous, 2019, Nature Communications.

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

Blair H. Smith, I. Deary, S. Frangou, 2019, Experimental Neurology.

Genetic analysis identifies molecular systems and biological pathways associated with household income

Stuart J. Ritchie, I. Deary, A. McIntosh, 2019, bioRxiv.

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

Nathan A. Bihlmeyer, Janina M. Jeff, Audrey Y. Chu, 2017, Journal of the American Society of Nephrology : JASN.

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

He Gao, Andres Metspalu, Fotios Drenos, 2017, Nature Genetics.

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

E. Demerath, Toshiko Tanaka, K. Lunetta, 2016, bioRxiv.

Genetic Copy Number Variation and General Cognitive Ability

Lorna M. Lopez, I. Deary, A. Pickles, 2012, PloS one.

DISC1 in schizophrenia: genetic mouse models and human genomic imaging.

S. Lawrie, A. McIntosh, D. Porteous, 2011, Schizophrenia bulletin.

RETHINKING THE GENETIC ARCHITECTURE OF SCHIZOPHRENIA

D J Porteous, D. Porteous, K. Mitchell, 2010, Schizophrenia Research.

Explorer The DISC 1 pathway modulates expression of neurodevelopmental , synaptogenic and sensory perception genes

W. Hennah, D. Porteous, 2018 .

The DISC1 Pathway Modulates Expression of Neurodevelopmental, Synaptogenic and Sensory Perception Genes

W. Hennah, D. Porteous, 2009, PloS one.

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

P. Visscher, N. Wray, D. Blackwood, 2003, Cold Spring Harbor symposia on quantitative biology.

Nuts and bolts of psychiatric genetics: building on the Human Genome Project.

D. Blackwood, W. Muir, D. Porteous, 2001, Trends in genetics : TIG.

Sex-specific association between bipolar affective disorder in women and GPR50, an X-linked orphan G protein-coupled receptor

N. Wray, D. Blackwood, W. Muir, 2005, Molecular Psychiatry.

Chromosomal abnormalities and mental illness

D. Blackwood, W. Muir, B. Pickard, 2003, Molecular Psychiatry.

EagI andNotI linking clones from human chromosomes 11 and Xp

K. Davies, D. Porteous, B. Harding, 1996, Human Genetics.

The genetics of the mood disorder spectrum: genome-wide association analyses of over 185,000 cases and 439,000 controls

Melissa J. Green, Robert C. Thompson, Pamela B. Mahon, 2018, bioRxiv.

DNA methylation in a Scottish family multiply affected by bipolar disorder and major depressive disorder

H. Whalley, A. McIntosh, D. Blackwood, 2016, Clinical Epigenetics.

Polygenic Risk for Schizophrenia Is Associated with Cognitive Change Between Childhood and Old Age

Ian J. Deary, David J. Porteous, John M. Starr, 2013, Biological Psychiatry.

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

Daniel E. Adkins, David M. Evans, Toshiko Tanaka, 2015, JAMA psychiatry.

Polygenic risk for Alzheimer's disease is not associated with cognitive ability or cognitive aging in non-demented older people.

I. Deary, L. Whalley, D. Porteous, 2014, Journal of Alzheimer's disease : JAD.

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

Stuart J. Ritchie, Tyrone D. Cannon, Amelia A. Assareh, 2018, Nature Communications.

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

David J. Porteous, Kathryn L. Evans, C. A. M. Semple, 2000, Bioinform..

Structural brain correlates of serum and epigenetic markers of inflammation in major depressive disorder

R. Marioni, S. Lawrie, H. Whalley, 2020, Brain, Behavior, and Immunity.

Epigenetic prediction of complex traits and death

Stuart J. Ritchie, R. Marioni, P. Visscher, 2018, Genome Biology.

A 700-kb physical map of a region of 16q23.2 homozygously deleted in multiple cancers and spanning the common fragile site FRA16D.

J. Sgouros, A. Stewart, D. Porteous, 2000, Cancer research.

Identification of polymorphic and off-target probe binding sites on the Illumina Infinium MethylationEPIC BeadChip

A. McIntosh, S. Morris, D. Porteous, 2016, bioRxiv.

Genetic stratification of depression by neuroticism: revisiting a diagnostic tradition

I. Deary, A. McIntosh, D. Porteous, 2019, Psychological Medicine.

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

I. Deary, A. McIntosh, D. Porteous, 2019, Molecular Psychiatry.

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

D. Porteous, N. Brandon, P. Whiting, 2005, Molecular and Cellular Neuroscience.

Physical mapping: integrating computational and molecular genetic data

S. Morris, D. Porteous, K. Evans, 2001 .

Physical mapping: integrating computational and molecular genetic data.

K L Evans, S Le Hellard, C A Semple, 2001, Annals of human genetics.

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

I. Deary, D. Rujescu, I. Giegling, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

Jennifer G. Robinson, Nicholette D. Palmer, P. Elliott, 2019, Nature Communications.

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

Pieter B. T. Neerincx, O. Franco, A. Hofman, 2015, Nature communications.

Variants associated with HHIP expression have sex-differential effects on lung function

Blair H. Smith, David M. Evans, T. Spector, 2021, Wellcome open research.

Variants associated with HHIP expression have sex-differential effects on lung function.

Blair H. Smith, David M. Evans, T. Spector, 2020, Wellcome open research.

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

Sina A. Gharib, Blair H. Smith, A. Uitterlinden, 2018, Wellcome open research.

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

Archie Campbell, David M Howard, Caroline Hayward, 2017, Genome Medicine.

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

Sina A. Gharib, M. Jarvelin, M. Fornage, 2017, International journal of epidemiology.

Novel transcribed sequences neighbouring a translocation breakpoint associated with schizophrenia.

A. Brookes, D. Porteous, K. Evans, 1997, American journal of medical genetics.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Generation Scotland

Blair H. Smith, E. Demerath, K. Lunetta, 2015 .

Disrupted In Schizophrenia 1 (DISC1): Subcellular targeting and induction of ring mitochondria

D. Porteous, J. Millar, S. Christie, 2005, Molecular and Cellular Neuroscience.

Stratifying depression by neuroticism: revisiting a diagnostic tradition using GWAS data

I. Deary, A. McIntosh, D. Porteous, 2019, bioRxiv.

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

D. Porteous, A. Doherty, H. Davidson, 1999, Electrophoresis.

CpG islands surround a DNA segment located between translocation breakpoints associated with genitourinary dysplasia and aniridia.

C. Junien, D. Porteous, W. Bickmore, 1989, Genomics.

SOX11 target genes: implications for neurogenesis and neuropsychiatric illness

D. Blackwood, W. Muir, B. Pickard, 2012, Acta Neuropsychiatrica.

Genome-wide meta-analysis of depression in 807,553 individuals identifies 102 independent variants with replication in a further 1,507,153 individuals

R. Marioni, N. Wray, I. Deary, 2018, bioRxiv.

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

I. Deary, T. Bourgeron, C. Greenwood, 2020, bioRxiv.

Within-sibship GWAS improve estimates of direct genetic effects

Christopher R. Bauer, David M. Evans, T. Spector, 2021, bioRxiv.

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

Stuart J. Ritchie, Tyrone D. Cannon, P. Elliott, 2017, bioRxiv.

PCR-generated cross-over linkers for site-directed mutagenesis.

D. Porteous, A. Boyd, 1997, BioTechniques.

Twin peaks: the draft human genome sequence

D. Porteous, K. Evans, C. Semple, 2001, Genome Biology.

Molecular Genetic Risk for Psychosis Is Associated With Psychosis Risk Symptoms in a Population-Based UK Cohort: Findings From Generation Scotland.

Daniel E. Adkins, A. Shabalin, R. Krueger, 2020, Schizophrenia bulletin.

Associations of autozygosity with a broad range of human phenotypes

May E. Montasser, Annelot M. Dekker, Blair H. Smith, 2019, Nature Communications.

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture ofmajor depressive disorder

Li, Katharina, Warren W. Kretzschmar, 2018 .

ART ICLE Open Ac ce s s GWAS on family history of Alzheimer ’ s disease

R. Marioni, P. Visscher, N. Wray, 2018 .

Accelerated Epigenetic Ageing in Major Depressive Disorder

R. Marioni, I. Deary, H. Whalley, 2017, bioRxiv.

Genetic Stratification to Identify Risk Groups for Alzheimer’s Disease

R. Marioni, P. Visscher, I. Deary, 2017, Journal of Alzheimer's disease : JAD.

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

I. Deary, D. Porteous, J. Starr, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

I. Deary, D. Porteous, J. Starr, 2011, International journal of Alzheimer's disease.

GWAS for psychiatric disease: is the framework built on a solid foundation?

D. Porteous, K. Mitchell, 2009, Molecular Psychiatry.

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

N. Wray, D. Blackwood, W. Muir, 2003, Genetics.

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

D. Porteous, J. Dorin, 1991, Thorax.

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

Alexandra M. Binder, Pashupati P. Mishra, Jack A. Taylor, 2021, Genome Biology.

Identification of clinically relevant genes on chromosome 11 in a functional model of ovarian cancer tumor suppression.

Cherie Blenkiron, John F Smyth, Euan A Stronach, 2003, Cancer research.

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

D. Porteous, P. Little, R. John, 1989, Genomics.

WWOX: A candidate tumor suppressor gene involved in multiple tumor types

D J Porteous, D. Porteous, A. Paige, 2001, Proceedings of the National Academy of Sciences of the United States of America.

A time-resolved proteomic and prognostic map of COVID-19

Christoph B. Messner, R. Marioni, C. von Kalle, 2021, Cell Systems.

Human specific CFTR antibodies detect in vivo gene transfer to ovine airways

D. Porteous, M. Amaral, A. Doherty, 2006 .

Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type Cftr gene expression

D. Porteous, J. Dorin, E. Alton, 1994, Mammalian Genome.

Cystic fibrosis in the mouse by targeted insertional mutagenesis

Wendy L. Kimber, David J. Porteous, Paul Dickinson, 1992, Nature.

Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids

D. Porteous, Harris Morrison, N. Hastie, 1988, Somatic cell and molecular genetics.

The DISC1 promoter: characterization and regulation by FOXP2.

Simon E Fisher, David J Porteous, Rosie M Walker, 2012, Human molecular genetics.

The DISC 1 promoter : characterization and regulation by FOXP 2

D. Porteous, K. Evans, J. Nicod, 2012 .

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

David J. Porteous, W. Bickmore, S. Christie, 1988, Nucleic Acids Res..

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

D. Blackwood, W. Muir, B. Pickard, 2006, Annals of medicine.

An epigenome-wide association study of sex-specific chronological ageing

R. Marioni, P. Visscher, A. McRae, 2019, Genome Medicine.

Feitosa, M. F., InterAct Consortium, & Levy, D. (2018). Novel genetic associations for blood pressure identified via gene-alcohol interaction in up

Bamidele, áková, Christine A. Williams, 2018 .

Explorer Coincident sequence cloning

A. Brookes, D. Porteous, 2022 .

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

Thomas W. Mühleisen, S. Cichon, T. Mühleisen, 2010, Neuroscience Letters.

The role of neuroticism in self-harm and suicidal ideation: results from two UK population-based cohorts

S. Lawrie, I. Deary, D. Porteous, 2019, Social Psychiatry and Psychiatric Epidemiology.

Mental health before and during the COVID-19 pandemic in two longitudinal UK population cohorts

D. Lawlor, N. Timpson, A. McIntosh, 2020, The British Journal of Psychiatry.

How relevant are mouse models for human diseases to somatic gene therapy?

D. Porteous, J. Dorin, 1993, Trends in biotechnology.

Association of polygenic score for major depression with response to lithium in patients with bipolar disorder

Janice M. Fullerton, Warren W. Kretzschmar, Robert M. Maier, 2020, Molecular Psychiatry.

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

D. Blackwood, W. Muir, C. Whitton, 2001, American journal of medical genetics.

Epigenetic measures of ageing predict the prevalence and incidence of leading causes of death and disease burden

S. Horvath, R. Marioni, I. Deary, 2020, Clinical Epigenetics.

Epigenetic clocks predict prevalence and incidence of leading causes of death and disease burden

S. Horvath, R. Marioni, I. Deary, 2020, bioRxiv.

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

Sheila Christie, David J Porteous, D. Porteous, 2003, Biochemical and biophysical research communications.

Translational Neuroscience of Schizophrenia: Seeking a Meeting of Minds Between Mouse and Man

D. Collier, J. Waddington, R. Kahn, 2011, Science Translational Medicine.

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

I. Deary, S. Lawrie, S. Fletcher‐Watson, 2020, Wellcome open research.

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

I. Deary, S. Lawrie, S. Fletcher‐Watson, 2020, Wellcome open research.

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

David M. Evans, I. Deary, B. Franke, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Explorer DISC 1 at 10 : connecting psychiatric genetics and neuroscience

D. Porteous, N. Brandon, A. Sawa, 2016 .

Preliminary investigation of miRNA expression in individuals at high familial risk of bipolar disorder

A. McIntosh, D. Porteous, K. Evans, 2015, Journal of psychiatric research.

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

D. Blackwood, W. Muir, B. Pickard, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

DISC1 at 10: connecting psychiatric genetics and neuroscience.

D. Porteous, N. Brandon, A. Sawa, 2011, Trends in molecular medicine.

Functional brain defects in a mouse model of a chromosomal t(1;11) translocation that disrupts DISC1 and confers increased risk of psychiatric illness

K. Fox, A. McIntosh, A. Smit, 2021, Translational Psychiatry.

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

Kathleen F. Kerr, M. P. Concas, May E. Montasser, 2019, bioRxiv.

NDE1 and GSK3β Associate with TRAK1 and Regulate Axonal Mitochondrial Motility: Identification of Cyclic AMP as a Novel Modulator of Axonal Mitochondrial Trafficking.

D. Porteous, H. Torrance, J. Millar, 2016, ACS chemical neuroscience.

Mapping studies on a pericentric inversion (18) (p11.31 q21.1) in a family with both schizophrenia and learning disability.

D. Blackwood, W. Muir, D. Porteous, 1999, Psychiatric genetics.

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

P. Visscher, D. Blackwood, W. Muir, 2004, Molecular Psychiatry.

Is Schizophrenia Linked to Chromosome 1q?

P. Visscher, W. Muir, D. Porteous, 2002, Science.

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

D J Porteous, D. Clair, D. Blackwood, 2001, American journal of human genetics.

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

P. Elliott, M. Jarvelin, P. Matthews, 2018 .

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

P. Visscher, I. Deary, K. McGhee, 2010, American journal of human genetics.

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

M. Farrall, D. Porteous, J. Dorin, 1992, Human molecular genetics.

A series of vectors that simplify mammalian gene targeting

A. Brookes, D. Porteous, J. Dorin, 1993, Transgenic Research.

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

A. Brookes, D. Porteous, E. Slorach, 1995, Genome research.

Schizophrenia-associated chromosome 11q21 translocation: identification of flanking markers and development of chromosome 11q fragment hybrids as cloning and mapping resources.

W. Muir, D. Porteous, K. Evans, 1993, American journal of human genetics.

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

N. Wray, D. Blackwood, W. Muir, 2007, Molecular Psychiatry.

Cytogenetic and genetic evidence supports a role for the kainate-type glutamate receptor gene, GRIK4, in schizophrenia and bipolar disorder

M. Hampson, D. Blackwood, W. Muir, 2006, Molecular Psychiatry.

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

A. McIntosh, D. Porteous, K. Evans, 2020, Biological Psychiatry.

DISC1-binding proteins in neural development, signalling and schizophrenia

D. Porteous, N. Bradshaw, 2012, Neuropharmacology.

Cohort Profile: Generation Scotland: Scottish Family Health Study (GS:SFHS). The study, its participants and their potential for genetic research on health and illness.

Archie Campbell, Colin N A Palmer, Harry Campbell, 2013, International journal of epidemiology.

Polygenic risk of ischemic stroke is associated with cognitive ability

C. Sudlow, R. Marioni, I. Deary, 2016, Neurology.

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

I. Deary, S. Lawrie, H. Whalley, 2019, Wellcome open research.

Epigenetic scores for the circulating proteome as tools for disease prediction

R. Marioni, C. Gieger, M. Waldenberger, 2020, bioRxiv.

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

R. Marioni, P. Visscher, N. Wray, 2019, Genome Medicine.

Epigenetic signatures of starting and stopping smoking

R. Marioni, P. Visscher, I. Deary, 2018, bioRxiv.

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

D. Kiel, I. Deary, P. Kraft, 2018, BMC Medicine.

Are some genetic risk factors common to schizophrenia, bipolar disorder and depression? evidence fromDISC1, GRIK4 andNRG1

D. Blackwood, W. Muir, D. Porteous, 2009, Neurotoxicity Research.

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

L. Peltonen, W. Hennah, D. Porteous, 2005, Schizophrenia bulletin.

Evolutionary constraints on the Disrupted in Schizophrenia locus.

Martin S. Taylor, D. Porteous, R. S. Devon, 2003, Genomics.

Distribution of Alu and L1 repeats in human YAC recombinants

D. Porteous, B. Arveiler, 2004, Mammalian Genome.

Common genetic variants explain the majority of the correlation between height and intelligence

R. Marioni, P. Visscher, I. Deary, 2016 .

The Mitosis and Neurodevelopment Proteins NDE1 and NDEL1 Form Dimers, Tetramers, and Polymers with a Folded Back Structure in Solution*

Juri Rappsilber, David J. Porteous, Malcolm D. Walkinshaw, 2012, The Journal of Biological Chemistry.

PKA Phosphorylation of NDE1 Is DISC1/PDE4 Dependent and Modulates Its Interaction with LIS1 and NDEL1

D. Porteous, D. Soares, J. Millar, 2011, The Journal of Neuroscience.

PKA Phosphorylation of NDE 1 Is DISC 1 / PDE 4 Dependent and Modulates Its Interaction with LIS 1 and NDEL 1

D. Porteous, D. Soares, J. Millar, 2011 .

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

D. Porteous, R. Gray, A. Bush, 2008, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

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

D. Porteous, V. van Heyningen, J. Fletcher, 1989, Genomics.

DNA methylation in APOE: The relationship with Alzheimer's and with cardiovascular health

R. Marioni, I. Deary, A. McIntosh, 2020, Alzheimer's & dementia.

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

D. Porteous, B. Arveiler, P. Dickinson, 1998, Gene.

Erratum to: Copy number variation in the human Y chromosome in the UK population

Tomas W. Fitzgerald, Blair H. Smith, C. Tyler-Smith, 2015, Human genetics.

Molecular genetic contributions to socioeconomic status and intelligence

Blair H. Smith, R. Marioni, P. Visscher, 2014, Intelligence.

Evidence of Inbreeding Depression on Human Height

Lorna M. Lopez, P. Visscher, A. Hofman, 2012, PLoS genetics.

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

Ian J. Deary, David J. Porteous, John M. Starr, 2012, Nature.

Exome Sequencing to Detect Rare Variants Associated With General Cognitive Ability: A Pilot Study

Martin S. Taylor, R. Marioni, I. Deary, 2015, Twin Research and Human Genetics.

Cardiac Troponin T and Troponin I in the General Population

M. Woodward, N. Sattar, D. Porteous, 2019, Circulation.

Blood-based epigenome-wide analyses of cognitive abilities

R. Marioni, I. Deary, M. Bastin, 2021, Genome Biology.

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

Blair H. Smith, I. Deary, A. McIntosh, 2015, Addiction biology.

Structural Brain MRI Trait Polygenic Score Prediction of Cognitive Abilities

R. Marioni, M. Fornage, I. Deary, 2015, Twin Research and Human Genetics.

Pedigree and genotyping quality analyses of over 10,000 DNA samples from the Generation Scotland: Scottish Family Health Study

Blair H. Smith, L. Wain, M. Tobin, 2013, BMC Medical Genetics.

Using tree-based methods for detection of gene–gene interactions in the presence of a polygenic signal: simulation study with application to educational attainment in the Generation Scotland Cohort Study

Ian J. Deary, Archie Campbell, David J. Porteous, 2018, Bioinform..

Sputum proteomics in inflammatory and suppurative respiratory diseases.

D. Porteous, R. Gray, M. Dewar, 2008, American journal of respiratory and critical care medicine.

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

N. Hastie, D. Porteous, C. Haley, 2016, PLoS genetics.

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

Blair H. Smith, I. Deary, D. Hinds, 2016, PLoS medicine.

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

D. Porteous, X. Nan, A. Boyd, 2004, Biochemical and biophysical research communications.

The PDE4B gene confers sex-specific protection against schizophrenia

D. Blackwood, W. Muir, B. Pickard, 2007, Psychiatric genetics.

Chronic pain, depression and cardiovascular disease linked through a shared genetic predisposition: Analysis of a family-based cohort and twin study

Archie Campbell, Sandosh Padmanabhan, Blair H Smith, 2017, PloS one.

Liposome-mediated CFTR gene transfer to the nasal epithelium of patients with cystic fibrosis

S. Durham, N. Caplen, D. Porteous, 1995, Nature Medicine.

Improved prediction of chronological age from DNA methylation limits it as a biomarker of ageing

R. Marioni, P. Visscher, N. Wray, 2018, bioRxiv.

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

Archie Campbell, Peter M Visscher, Gibran Hemani, 2020, Nature Communications.

Altered DNA methylation associated with a translocation linked to major mental illness

Niamh M. Ryan, R. Marioni, S. McCarthy, 2018, npj Schizophrenia.

Coincident sequence cloning: a new approach to genome analysis.

A. Brookes, D. Porteous, 1992, Trends in biotechnology.

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

D. Porteous, J. Dorin, V. Heyningen, 1990, Somatic cell and molecular genetics.

Cloning the cystic fibrosis gene : implications for diagnosis and treatment

D. Porteous, J. Dorin, 2022 .

Differential global gene expression in cystic fibrosis nasal and bronchial epithelium.

D. Porteous, R. Kitchen, P. Shah, 2011, Genomics.

Changes in physiological, functional and structural markers of cystic fibrosis lung disease with treatment of a pulmonary exacerbation

D. Hansell, D. Porteous, D. Ashby, 2013, Thorax.

The genomic organisation of the metabotropic glutamate receptor subtype 5 gene, and its association with schizophrenia

D. Blackwood, W. Muir, D. Porteous, 2001, Molecular Psychiatry.

Disrupted in schizophrenia 1: building brains and memories.

D. Porteous, J. Millar, David J. Porteous, 2006, Trends in molecular medicine.

Identifying genes within microdissected genomic DNA: Isolation of brain expressed genes from a translocation region associated with inherited mental illness

A. Brookes, W. Muir, D. Porteous, 1995, Mammalian Genome.

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

D. Blackwood, W. Muir, D. Porteous, 2001, Psychiatric genetics.

Identification of genes from a schizophrenia-linked translocation breakpoint region.

D. Porteous, C. Semple, S. Le Hellard, 2001, Genomics.

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

N. Wray, M. Owen, D. Blackwood, 2007, Biological Psychiatry.

Association analysis of the chromosome 4p-located G protein-coupled receptor 78 (GPR78) gene in bipolar affective disorder and schizophrenia

N. Wray, D. Blackwood, W. Muir, 2006, Molecular Psychiatry.

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

D. Bentley, M. Ross, W. Muir, 2001, Genomics.

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

T. Meitinger, D. Porteous, K. Evans, 2000, American journal of medical genetics.

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

D. Blackwood, W. Muir, B. Pickard, 2005, Psychiatric genetics.

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

David J. Porteous, Walter J. Muir, Elizabeth A. Blackburn, 2012, Human molecular genetics.

Polygenic contributions to alcohol use and alcohol use disorders across population-based and clinically ascertained samples

K. Bucholz, M. Schuckit, V. Hesselbrock, 2020, Psychological Medicine.

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

R. Marioni, I. Deary, H. Whalley, 2018, Alzheimer's & dementia.

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

Blair H. Smith, I. Deary, C. Lewis, 2019, The Pharmacogenomics Journal.

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

Blair H. Smith, I. Deary, C. Lewis, 2019 .

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

Blair H. Smith, I. Deary, A. McIntosh, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

R. Marioni, I. Deary, K. Rawlik, 2018, bioRxiv.

An improved method for recovering intact pulsed field gel purified DNA, of at least 1.6 megabases.

A. Brookes, D. Porteous, J. Maule, 1994, Nucleic acids research.

Detailed analysis of NDEL1 structures and NDE1 homology models

D. Porteous, D. Soares, S. Christie, 2011 .

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

Blair H. Smith, N. Wray, I. Deary, 2017, Biological Psychiatry.

Association between cognition and gene polymorphisms involved in thrombosis and haemostasis

Blair H. Smith, J. Gallacher, I. Deary, 2015, AGE.

Title : Association between cognition and gene polymorphisms involved in thrombosis and haemostasis Running title : Thrombosis and haemostasis associations with cognition

Blair H. Smith, J. Gallacher, I. Deary, 2015 .

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

Nicholette D. Palmer, P. Elliott, M. Fornage, 2020, Molecular Psychiatry.

SUSPECTS : enabling fast and effective prioritization of positional candidates

David J. Porteous, Richard R. Adams, Euan A. Adie, 2005 .

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

I. Deary, D. Porteous, J. Starr, 2012 .

Edinburgh Research Explorer Expression of DISC1-Interactome Members Correlates with Cognitive Phenotypes Related to Schizophrenia

D. Porteous, K. Evans, G. Blasi, 2022 .

The influence of X chromosome variants on trait neuroticism

I. Deary, A. McIntosh, D. Porteous, 2018, bioRxiv.

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

D. Porteous, K. Tew, P. Thomson, 2012, ACS chemical neuroscience.

Biomarkers for cystic fibrosis lung disease

D. Porteous, R. Gray, A. Bush, 2016 .

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

Angelita Pui-Yee Wong, M. Jarvelin, R. Marioni, 2014, BMJ Open.

Assessment of dried blood spots for DNA methylation profiling

A. McIntosh, S. Morris, D. Porteous, 2019, bioRxiv.

Edinburgh Research Explorer SNP genotyping on pooled DNAs

P. Visscher, D. Blackwood, W. Muir, 2018 .

Rapid isolation of moderate and highly polymorphic DNA fragments mapping close to WT (Wilms' tumour) and AN2 (aniridia) on chromosome 11

D. Porteous, S. Christie, N. Hastie, 1989, Human Genetics.

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

David M. Evans, Toshiko Tanaka, I. Deary, 2015, Behavior genetics.

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

Blair H. Smith, I. Deary, A. McIntosh, 2019, bioRxiv.

Cardiac Troponin T and Troponin I in the General Population : Comparing and Contrasting their Genetic Determinants and Associations with Outcomes Running

M. Woodward, D. Porteous, A. Briggs, 2019 .

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

D. Porteous, W. Walker, A. Boyd, 2004, Journal of controlled release : official journal of the Controlled Release Society.

University of Dundee Epidemiology and heritability of Major Depressive Disorder, stratified by age of onset, sex, and illness course in Generation Scotland Fernandez-Pujals,

Blair H. Smith, A. Dominiczak, A. McIntosh, 2015 .

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

Lorna M. Lopez, I. Deary, M. Bastin, 2013, Behavior genetics.

Shared Genetics and Couple-Associated Environment Are Major Contributors to the Risk of Both Clinical and Self-Declared Depression

Blair H. Smith, A. McIntosh, D. Porteous, 2016, bioRxiv.

GPR50 interacts with neuronal NOGO-A and affects neurite outgrowth

D. Porteous, P. Thomson, Ellen Grünewald, 2009, Molecular and Cellular Neuroscience.

Loss of SORCS2 is Associated with Neuronal DNA Double-Strand Breaks

D. Porteous, K. Evans, T. Spires-Jones, 2021, bioRxiv.

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

D. Blackwood, W. Muir, K. McGhee, 2011, Molecular Psychiatry.

Prescreening for European Prevention of Alzheimer Dementia (EPAD) trial-ready cohort: impact of AD risk factors and recruitment settings

K. Blennow, J. Molinuevo, P. Scheltens, 2020, Alzheimer's Research & Therapy.

Data science for mental health: a UK perspective on a global challenge.

Ann John, Robert Stewart, Stephen M Lawrie, 2016, The lancet. Psychiatry.

University of Dundee A Combined Pathway and Regional Heritability Analysis Indicates NETRIN 1 Pathway is Associated with Major Depressive Disorder

Blair H. Smith, A. McIntosh, D. Porteous, 2017 .

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

Blair H. Smith, I. Deary, A. McIntosh, 2017 .

A Combined Pathway and Regional Heritability Analysis Indicates NETRIN 1 Pathway is Associated with Major Depressive Disorder Short title : pathway and regional heritability analyses in MDD

Blair H. Smith, N. Wray, I. Deary, 2016 .

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

Blair H. Smith, I. Deary, A. McIntosh, 2016 .

Socioeconomic position and mental health during the COVID- 19 pandemic: a cross-sectional analysis of the CovidLife study [version 1; peer review: awaiting peer review]

D. Porteous, A. Campbell, D. Altschul, 2021 .

Genome-wide association study of cardiac troponin I in the general population

Laurent F. Thomas, P. Munroe, N. Sattar, 2021, Human molecular genetics.

DISC1 and Huntington's Disease – Overlapping Pathways of Vulnerability to Neurological Disorder?

D. Porteous, P. Thomson, R. Boxall, 2011, PloS one.

Birth weight associations with DNA methylation differences in an adult population

R. Marioni, I. Deary, K. Rawlik, 2020, Epigenetics.

Cardiovascular risk factors associated with the metabolic syndrome are more prevalent in people reporting chronic pain: Results from a cross-sectional general population study

Blair H. Smith, A. Dominiczak, A. Morris, 2013, PAIN®.

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

Joanna M. Wardlaw, Mark E. Bastin, Ian J. Deary, 2014, Neurobiology of Aging.

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

D. Porteous, Seng H. Cheng, L. Davies, 2007, The journal of gene medicine.

Laboratory and clinical studies in support of cystic fibrosis gene therapy using pCMV-CFTR-DOTAP.

D. Porteous, G. Mclachlan, E. Alton, 1996, Gene therapy.

Lung disease in the cystic fibrosis mouse exposed to bacterial pathogens

D. Porteous, D. Davidson, J. Dorin, 1995, Nature Genetics.

Genome-wide association for major depression through age at onset stratificationGenomic analysis of age at onset in depression

Naomi, Blair H. Smith, I. Deary, 2016 .

Residual cftr Expression Varies with Age in cftrtm1Hgu Cystic Fibrosis Mice: Impact on Morphology and Physiology

D. Porteous, W. Bernhard, I. Steinmetz, 2002, Pathobiology.

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

D. Porteous, J. Dorin, B. Stevenson, 2000, Transgenic Research.

Bioelectric characteristics of exon 10 insertional cystic fibrosis mouse: comparison with humans.

D. Porteous, D. Geddes, E. Alton, 1995, The American journal of physiology.

Non-viral vectors in cystic fibrosis gene therapy: progress and challenges.

D. Porteous, C. Férec, C. Pichon, 2004, Trends in biotechnology.

Plasmid DNA molecules complexed with cationic liposomes are protected from degradation by nucleases and shearing by aerosolisation.

D J Porteous, B J Stevenson, D. Porteous, 1996, Gene therapy.

Role of DISC1 in neural development and schizophrenia

D. Porteous, J. Millar, S. Mackie, 2007, Current Opinion in Neurobiology.

Disc1 Variation Leads to Specific Alterations in Adult Neurogenesis

D. Porteous, C. ffrench-Constant, J. Millar, 2014, PloS one.

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

I. Deary, A. McIntosh, D. Porteous, 2016, International journal of epidemiology.

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

S. Lawrie, A. McIntosh, D. Blackwood, 2018, bioRxiv.

Isoform-Selective Susceptibility of DISC1/Phosphodiesterase-4 Complexes to Dissociation by Elevated Intracellular cAMP Levels

D. Porteous, M. Houslay, J. Millar, 2007, The Journal of Neuroscience.

Cystic fibrosis--the way forward from the gene.

D. Porteous, J. Dorin, J. R. Dorin, 1991, Trends in biotechnology.

Variants in Doublecortin- and Calmodulin Kinase Like 1, a Gene Up-Regulated by BDNF, Are Associated with Memory and General Cognitive Abilities

I. Deary, A. Lundervold, I. Reinvang, 2009, PloS one.

Generation Scotland

E. Demerath, K. Lunetta, J. Murabito, 2015 .

DNA methylation age acceleration and risk factors for Alzheimer’s disease

R. Marioni, I. Deary, H. Whalley, 2018, bioRxiv.

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

D. Porteous, R. Gray, D. Penque, 2010, Clinical biochemistry.

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

S. Lawrie, A. McIntosh, D. Porteous, 2019, Journal of psychopharmacology.

The genetic landscape of Scotland and the Isles

S. Ring, D. Porteous, C. Haley, 2019, Proceedings of the National Academy of Sciences.

Birth weight associations with psychiatric and physical health, cognitive function, and DNA methylation differences in an adult population

R. Marioni, I. Deary, K. Rawlik, 2019, bioRxiv.

Modelling cystic fibrosis in the mouse.

D. Porteous, J. Dorin, P. Dickinson, 1995, Molecular medicine today.

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

Blair H. Smith, I. Deary, A. McIntosh, 2018, Wellcome open research.

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

Blair H. Smith, I. Deary, A. McIntosh, 2017, bioRxiv.

Measure and interpretation of CF gene therapy trial results.

D. Porteous, D. Gill, J. Innes, 2000, Molecular therapy : the journal of the American Society of Gene Therapy.

Differential effects of the APOE e4 allele on different domains of cognitive ability across the life-course

R. Marioni, I. Deary, D. Porteous, 2015, European Journal of Human Genetics.

UKCF gene therapy consortium tracking study: Lung clearance index improves with treatment of an infective exacerbation

D. Porteous, D. Geddes, R. Gray, 2007 .

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

D. Porteous, M. Amaral, A. Doherty, 2007, Proceedings of the National Academy of Sciences.

APOE/TOMM 40 genetic loci, white matter hyperintensities, and cerebral microbleeds

I. Deary, A. Roses, M. Bastin, 2015, International journal of stroke : official journal of the International Stroke Society.

Genes From a Translational Analysis Support a Multifactorial Nature of White Matter Hyperintensities

Joanna M. Wardlaw, Mark E. Bastin, Ian J. Deary, 2015, Stroke.

Two-Back Makes Step Forward in Brain Imaging Genomics

I. Deary, D. Porteous, A. McIntosh, 2014, Neuron.

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

Blair H. Smith, L. Wain, I. Ntalla, 2016, Thorax.

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

Blair H. Smith, I. Deary, A. McIntosh, 2017, Wellcome open research.

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

S. Gregory, A. Ivens, D. Porteous, 1992, Genomics.

Copy Number Variation across European Populations

S. Wild, I. Rudan, D. Porteous, 2011, PloS one.

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

D. Porteous, 2008, Current opinion in genetics & development.

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

R. Marioni, I. Deary, D. Porteous, 2017, Translational Psychiatry.

Genetic and environmental determinants of stressful life events and their overlap with depression and neuroticism [version 2; peer review: 1 approved, 2 approved with reservations]

Blair H. Smith, I. Deary, A. McIntosh, 2021 .

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

David M. Evans, C. Hoggart, M. Jarvelin, 2014, PLoS genetics.

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

A. McIntosh, D. Porteous, K. Evans, 2020, PLoS genetics.

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

Blair H. Smith, N. Hastie, D. Porteous, 2017, Nature Communications.

Erratum: Genome-wide association meta-analysis of 78,308 individuals identifies new loci and genes influencing human intelligence

P. O’Reilly, P. Elliott, D. Levy, 2017, Nature Genetics.

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

D. Porteous, K. Evans, W. Kimberling, 1993, Human molecular genetics.

Preliminary assessment of pre‐morbid DNA methylation in individuals at high genetic risk of mood disorders

Niamh M. Ryan, H. Whalley, A. McIntosh, 2016, Bipolar disorders.

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

A. Nicholson, D. Hansell, A. Maclean, 2016 .

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

D. Porteous, Charanjit Singh, R. Scheule, 2010, American journal of respiratory cell and molecular biology.

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

S. Lawrie, A. McIntosh, D. Blackwood, 2018, bioRxiv.

Identification of common variants associated with human hippocampal and intracranial volumes

Marisa O. Hollinshead, Lorna M. Lopez, Thomas W. Mühleisen, 2012, Nature Genetics.

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

Stuart J. Ritchie, I. Deary, A. McIntosh, 2022 .

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)

Klaus P. Ebmeier, Blair H. Smith, I. Deary, 2015, PLoS ONE.

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

Andrew D. Johnson, E. Demerath, Toshiko Tanaka, 2015 .

Development of sputum calprotectin as a biomarker of cystic fibrosis lung disease activity: Evidence from cross sectional and longitudinal studies

D. Porteous, R. Gray, J. Innes, 2006 .

Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype‐phenotype correlations.

D. Porteous, B. Wainwright, J. Dorin, 1996, The EMBO journal.

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

Stuart J. Ritchie, I. Deary, A. McIntosh, 2019, Nature Communications.

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

I. Deary, T. Bourgeron, C. Greenwood, 2020, bioRxiv.

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

Lorna M. Lopez, Sina A. Gharib, Bonnie R. Joubert, 2011, Nature Genetics.

in MOCS 3 , IFIT 3 and SERPINA 12

Blair H. Smith, L. Wain, I. Ntalla, 2016 .

Serotonin receptor 1A knockout: an animal model of anxiety-related disorder.

R Hen, R. Hen, J. Lerch, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Insertion of natural intron 6a‐6b into a human cDNA‐derived gene therapy vector for cystic fibrosis improves plasmid stability and permits facile RNA/DNA discrimination

D. Porteous, A. Doherty, G. Mclachlan, 1999 .

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

N. Wray, D. Geschwind, H. Stefánsson, 2019, Nature Genetics.

Associations of autozygosity with a broad range of human phenotypes

Peter K. Joshi, M. P. Concas, May E. Montasser, 2019, Nature Communications.

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

I. Deary, W. Hennah, J. Starr, 2010, Molecular Psychiatry.

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

E. Demerath, K. Lunetta, J. Murabito, 2015, Nature Communications.

Effect of IBMX and alkaline phosphatase inhibitors on Cl- secretion in G551D cystic fibrosis mutant mice.

D. Porteous, D. Geddes, B. Wainwright, 1998, American journal of physiology. Cell physiology.

The Geography of Finance: Spatial Dimensions of Intermediary Behaviour

D. Porteous, 1995 .

708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits

J. D. Watson, P. Visscher, A. McRae, 2013, Molecular Psychiatry.

Partial deletion of chromosome 11p in breast cancer correlates with size of primary tumour and oestrogen receptor level.

D. Porteous, R. Hawkins, U. Chetty, 1988, British Journal of Cancer.

Edinburgh Explorer Phenotypic and genetic analysis of cognitive performance in Major Depressive Disorder in the Generation Scotland

R. Marioni, I. Deary, D. Porteous, 2018 .

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

Jennifer G. Robinson, Nicholette D. Palmer, P. Elliott, 2019, Nature Communications.

DISC1 as a genetic risk factor for schizophrenia and related major mental illness: response to Sullivan

D. Clair, S. McCarthy, J. Roder, 2014, Molecular Psychiatry.

Genome-wide association study of suicide death and polygenic prediction of clinical antecedents

Daniel E. Adkins, H. Coon, A. Shabalin, 2017, bioRxiv.

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

Blair H. Smith, N. Wray, I. Deary, 2017, Biological Psychiatry.

Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts

Lorna M. Lopez, I. Deary, A. Pickles, 2011, European Journal of Human Genetics.

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

A. Nicholson, D. Hansell, A. Maclean, 2015, The Lancet. Respiratory medicine.

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

Henry J. Lin, Blair H. Smith, K. Lunetta, 2017, Nature Genetics.

DNA methylation in the APOE gene: its link with Alzheimer’s and cardiovascular health

R. Marioni, I. Deary, A. McIntosh, 2019 .

Identification and Analysis of Genes Disrupted by a Translocation Segregating with Schizophrenia

W. Muir, D. Porteous, R. S. Devon, 2000 .

Association of polygenic score for major depression with response to lithium in patients with bipolar disorder

Warren W. Kretzschmar, Robert M. Maier, P. O’Reilly, 2020, Molecular psychiatry.

Apolipoprotein E is not Related to Memory Abilities at 70 Years of Age

P. Visscher, I. Deary, D. Porteous, 2009, Behavior genetics.

Alu-based vectorettes and splinkerettes. More efficient and comprehensive polymerase chain reaction amplification of human DNA from complex sources.

D J Porteous, A. Brookes, D. Porteous, 1994, Genetic analysis, techniques and applications.

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

David J Porteous, Stewart W Morris, S. Morris, 2002, Genome research.

Comparing Human Genome Mapping Data

S. Morris, D. Porteous, K. Evans, 2001, Science.

Successful targeting of the mouse cystic fibrosis transmembrane conductance regulator gene in embryonal stem cells

D. Porteous, S. Halford, A. Clarke, 1992, Transgenic Research.

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

D. Blackwood, W. Muir, B. Pickard, 2004, BMC Medical Genetics.

Prescreening for European Prevention of Alzheimer Dementia (EPAD) trial-ready cohort: impact of AD risk factors and recruitment settings

K. Blennow, J. Molinuevo, P. Scheltens, 2020, Alzheimer's Research & Therapy.

PCR-generated crossover linkers for site-directed mutagenesis

D. Porteous, A. Boyd, A. Boyd, 1997 .

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

Stuart J. Ritchie, Tyrone D. Cannon, Amelia A. Assareh, 2019, Nature Communications.

Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts

Lorna M. Lopez, I. Deary, A. Pickles, 2011, European Journal of Human Genetics.

The Dementias Platform UK (DPUK) Data Portal

Alan J. Thomas, J. Gallacher, P. Matthews, 2019, bioRxiv.

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

Blair H. Smith, I. Deary, A. Dominiczak, 2012, Neuroscience Letters.

The DISC1 Pathway Modulates Expression of Neurodevelopmental, Synaptogenic and Sensory Perception Genes

W. Hennah, D. Porteous, David Porteous, 2009, PloS one.

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

Martin S. Taylor, D. Porteous, R. S. Devon, 2000, Mammalian Genome.

Revisiting the mouse lung model for CF

D. Porteous, A. Boyd, 2004, Gene Therapy.

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

D. Blackwood, W. Muir, D. Porteous, 2009, Journal of Psychiatric Research.

The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls.

Melissa J. Green, Janice M. Fullerton, Robert C. Thompson, 2019, Biological psychiatry.

Current Versus Lifetime Depression, APOE Variation, and Their Interaction on Cognitive Performance in Younger and Older Adults

R. Marioni, I. Deary, A. McIntosh, 2015, Psychosomatic medicine.

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

R. Marioni, N. Wray, I. Deary, 2019, Nature Neuroscience.

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

Karsten B. Sieber, M. P. Concas, Nicholette D. Palmer, 2019, Nature Genetics.

Does Childhood Trauma Moderate Polygenic Risk for Depression? A Meta-analysis of 5765 Subjects From the Psychiatric Genomics Consortium

John P. Rice, Warren W. Kretzschmar, Robert M. Maier, 2017, Biological Psychiatry.

Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences

Jonathan P. Beauchamp, Gerardus A. Meddens, Joseph K. Pickrell, 2019, Nature Genetics.

Common variants on 6 q 16 . 2 , 12 q 24 . 31 and 16 p 13 . 3 are associated with major depressive disorder

A. McIntosh, Chen Zhang, D. Porteous, 2018 .

Generation Scotland participant survey on data collection

D. Porteous, Rachel Edwards, A. Campbell, 2019, Wellcome open research.

Polygenic risk for Alzheimer's disease is not associated with cognitive ability or cognitive aging in non-demented older people.

I. Deary, L. Whalley, D. Porteous, 2014, Journal of Alzheimer's disease : JAD.

Polygenic Risk for Schizophrenia Is Associated with Cognitive Change Between Childhood and Old Age

P. Visscher, I. Deary, A. McIntosh, 2013, Biological Psychiatry.

Edinburgh Research Explorer Polygenic Risk for Schizophrenia Is Associated with Cognitive Change between Childhood and Old Age Polygenic Risk for Schizophrenia Is Associated with Cognitive Change between Childhood and Old Age

P. Visscher, I. Deary, A. McIntosh, 2022 .

risk variants and refine the genetic architecture ofmajor depressive disorder

Li, Katharina, Warren W. Kretzschmar, 2022 .

Do Regional Brain Volumes and Major Depressive Disorder Share Genetic Architecture?: a study of Generation Scotland (n=19,762), UK Biobank (n=24,048) and the English Longitudinal Study of Ageing (n=5,766)

Blair H. Smith, I. Deary, A. McIntosh, 2016, bioRxiv.

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

Blair H. Smith, J. Pell, I. Deary, 2006, BMC Medical Genetics.

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

Lorna M. Lopez, P. Visscher, I. Deary, 2012, Nature.

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

G. Schellenberg, E. Boerwinkle, V. Salomaa, 2016, PLoS genetics.

Multi-ethnic genome-wide association study for atrial fibrillation

Jay A. Montgomery, Brian R. Daniels, Blair H. Smith, 2018, Nature Genetics.

Are APOE ɛ genotype and TOMM40 poly-T repeat length associations with cognitive ageing mediated by brain white matter tract integrity?

I. Deary, M. Bastin, J. Starr, 2014, Translational Psychiatry.

Genetic Predictors of Fibrin D-Dimer Levels in Healthy Adults

Lorna M. Lopez, C. Gieger, P. Visscher, 2011, Circulation.

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

Jennifer G. Robinson, M. P. Concas, Nicholette D. Palmer, 2019, Nature Communications.

How data science can advance mental health research

Zina M. Ibrahim, R. Dobson, A. McIntosh, 2018, Nature Human Behaviour.

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

D. Porteous, A. Boyd, J. A. Innes, 2015, American journal of respiratory and critical care medicine.

Apolipoprotein E is not Related to Memory Abilities at 70 Years of Age

P. Visscher, I. Deary, D. Porteous, 2009, Behavior genetics.

Cohort profile for the STratifying Resilience and Depression

I. Deary, S. Lawrie, H. Whalley, 2019 .

Genetic variants linked to education predict longevity

Stuart J. Ritchie, R. Marioni, I. Deary, 2016, Proceedings of the National Academy of Sciences.

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

Nicholette D. Palmer, P. Elliott, M. Fornage, 2020, Molecular Psychiatry.

The Trans-Ancestral Genomic Architecture of Glycaemic Traits

Stephen C. J. Parker, Tanya M. Teslovich, Anne W. Ndungu, 2020 .

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

Stuart J. Ritchie, Tyrone D. Cannon, Amelia A. Assareh, 2018, Nature Communications.

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

Andrew D. Johnson, Stephanie A. Bien, John D. Eicher, 2017, PLoS Genetics.

The genetics of cystic fibrosis lung disease

D. Porteous, D. Davidson, 1998, Thorax.

Identification of clinically relevant genes on chromosome 11 in a functional model of ovarian cancer tumor suppression.

C. Blenkiron, D. Porteous, H. Gabra, 2003, Cancer research.

Structural brain correlates of serum and epigenetic markers of inflammation in major depressive disorder

R. Marioni, S. Lawrie, H. Whalley, 2020, Brain, Behavior, and Immunity.

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk (vol 49, pg 403, 2017)

P. O’Reilly, P. Elliott, L. Wain, 2017 .

Detection of CFTR transgene mRNA expression in respiratory epithelium isolated from the murine nasal cavity

D. Porteous, R. Scheule, Seng H. Cheng, 2010, The journal of gene medicine.

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

Blair H. Smith, I. Deary, A. McIntosh, 2019 .

Complex Variation in Measures of General Intelligence and Cognitive Change

I. Deary, D. Porteous, J. Starr, 2013, PloS one.

Gene Targeting for Somatic Cell Manipulation

D. Porteous, J. Dorin, 1991 .

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

S. Lawrie, A. McIntosh, D. Porteous, 2019, Journal of psychopharmacology.

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

Lorna M. Lopez, Sina A. Gharib, Bonnie R. Joubert, 2011, Nature Genetics.

Exome Sequencing to Detect Rare Variants Associated With General Cognitive Ability: A Pilot Study

Martin S. Taylor, R. Marioni, I. Deary, 2015, Twin Research and Human Genetics.

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

E. Demerath, K. Lunetta, J. Murabito, 2017, Nature Genetics.

Translational Neuroscience of Schizophrenia: Seeking a Meeting of Minds Between Mouse and Man

D. Collier, J. Waddington, R. Kahn, 2011, Science Translational Medicine.

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

Gerardus A. Meddens, Joseph K. Pickrell, Steven F. Lehrer, 2018, Nature Genetics.

Association between cognition and gene polymorphisms involved in thrombosis and haemostasis

Blair H. Smith, J. Gallacher, I. Deary, 2015, AGE.

Edinburgh Research Explorer Polygenic Risk for Coronary Artery Disease Is Associated with Cognitive Ability in Older Adults

I. Deary, A. McIntosh, D. Porteous, 2022 .

Discovery and validation of 107 blood pressure loci from UK Biobank offers novel biological insights into cardiovascular risk

P. O’Reilly, P. Elliott, L. Wain, 2016 .

Omics versus Questionnaires: Using methylation data to assess the environmental impact of smoking on obesity-related traits

A. McIntosh, D. Porteous, K. Evans, 2020, bioRxiv.

Safety and adverse events

A. Nicholson, D. Hansell, A. Maclean, 2016 .