Lista de obras - Shaun Purcell - Dominio Público Uruguay

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

artículo científico publicado en 2017

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A framework for the interpretation of de novo mutation in human disease

artículo científico publicado en 2014

A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability.

artículo científico publicado en 2013

A genome-wide association study of depressive symptoms

scientific journal article

A role for noncoding variation in schizophrenia

artículo científico publicado en 2014

A second generation human haplotype map of over 3.1 million SNPs

artículo científico publicado en 2007

An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype

artículo científico publicado en 2016

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

artículo científico publicado en 2014

Analysis of protein-coding genetic variation in 60,706 humans

artículo científico publicado en 2016

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

artículo científico publicado en 2008

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

artículo científico publicado en 2006

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

artículo científico publicado en 2016

Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression

scientific journal article

De novo CNVs in bipolar affective disorder and schizophrenia

artículo científico publicado en 2014

De novo mutations in schizophrenia implicate synaptic networks

artículo científico publicado en 2014

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

artículo científico publicado en 2012

Dysbindin (DTNBP1) and the Biogenesis of Lysosome-Related Organelles Complex 1 (BLOC-1): Main and Epistatic Gene Effects Are Potential Contributors to Schizophrenia Susceptibility

article

Erratum

scholarly article published in Genetic Epidemiology

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2011

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2018

Evaluation of an approximation method for assessment of overall significance of multiple-dependent tests in a genomewide association study

artículo científico publicado en 2011

Exome sequencing and the genetic basis of complex traits

artículo científico publicado en 2012

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

artículo científico publicado en 2012

Family-based association study of lithium-related and other candidate genes in bipolar disorder

artículo científico publicado en 2008

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

article

Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder

artículo científico publicado en 2009

Genetic differences between five European populations

artículo científico

Genetic evidence of assortative mating in humans

article

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

artículo científico publicado en 2013

Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder

artículo científico publicado en 2011

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

artículo científico publicado en 2009

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2009

Genome-wide association study identifies 30 loci associated with bipolar disorder.

artículo científico publicado en 2019

Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder

scientific article published on 27 October 2015

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

artículo científico publicado en 2010

Genome-wide association study of suicide attempts in mood disorder patients

artículo científico publicado en 2010

Genome-wide detection and characterization of positive selection in human populations

artículo científico publicado en 2007

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

artículo científico publicado en 2012

Hundreds of variants clustered in genomic loci and biological pathways affect human height

artículo científico publicado en 2010

Implication of a rare deletion at distal 16p11.2 in schizophrenia

artículo científico publicado en 2013

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

artículo científico publicado en 2008

Macro and micro sleep architecture and cognitive performance in older adults

scientific article published on 16 November 2020

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2010

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

artículo científico publicado en 2015

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Mosaic copy number variation in schizophrenia

artículo científico publicado en 2013

Multivariate genomewide linkage scan of neurocognitive traits and ADHD symptoms: suggestive linkage to 3q13.

artículo científico publicado en 2008

New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis

artículo científico publicado en 2015

PLINK: a tool set for whole-genome association and population-based linkage analyses

artículo científico publicado en 2007

Pharmacogenetic analysis of genes implicated in rodent models of antidepressant response: association of TREK1 and treatment resistance in the STAR(*)D study

artículo científico publicado en 2008

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

artículo científico publicado en 2012

Population differences in the International Multi-Centre ADHD Gene Project

article

Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder

artículo científico publicado en 2010

Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

scientific article published on 01 June 2019

Publisher Correction: Macro and micro sleep architecture and cognitive performance in older adults

artículo científico publicado en 2020

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

artículo científico publicado en 2013

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

artículo científico publicado en 2016

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

scientific journal article

Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4

artículo científico publicado en 2005

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

artículo científico publicado en 2017

Support of association between BRD1 and both schizophrenia and bipolar affective disorder.

artículo científico publicado en 2010

Synaptic, transcriptional and chromatin genes disrupted in autism

artículo científico publicado en 2014

Testing for an unusual distribution of rare variants

artículo científico publicado en 2011

The Genetics of Endophenotypes of Neurofunction to Understand Schizophrenia (GENUS) consortium: A collaborative cognitive and neuroimaging genetics project

artículo científico publicado en 2017

The Promises and Pitfalls of Genoeconomics

artículo científico publicado en 2012

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

The genetic structure of the Swedish population

artículo científico publicado en 2011

The genome-wide patterns of variation expose significant substructure in a founder population

artículo científico publicado en 2008

Two independent alleles at 6q23 associated with risk of rheumatoid arthritis

artículo científico publicado en 2007

Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strains

artículo científico publicado en 2005

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

artículo científico publicado en 2016

Lista de obras de Shaun Purcell

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A framework for the interpretation of de novo mutation in human disease

A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability.

A genome-wide association study of depressive symptoms

A role for noncoding variation in schizophrenia

A second generation human haplotype map of over 3.1 million SNPs

An Analysis of Two Genome-wide Association Meta-analyses Identifies a New Locus for Broad Depression Phenotype

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis

Analysis of protein-coding genetic variation in 60,706 humans

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression

De novo CNVs in bipolar affective disorder and schizophrenia

De novo mutations in schizophrenia implicate synaptic networks

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

Dysbindin (DTNBP1) and the Biogenesis of Lysosome-Related Organelles Complex 1 (BLOC-1): Main and Epistatic Gene Effects Are Potential Contributors to Schizophrenia Susceptibility

Erratum

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Evaluation of an approximation method for assessment of overall significance of multiple-dependent tests in a genomewide association study

Exome sequencing and the genetic basis of complex traits

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

Family-based association study of lithium-related and other candidate genes in bipolar disorder

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder

Genetic differences between five European populations

Genetic evidence of assortative mating in humans

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

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

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

Genome-wide association study identifies 30 loci associated with bipolar disorder.

Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

Genome-wide association study of suicide attempts in mood disorder patients

Genome-wide detection and characterization of positive selection in human populations

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Implication of a rare deletion at distal 16p11.2 in schizophrenia

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

Macro and micro sleep architecture and cognitive performance in older adults

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Mosaic copy number variation in schizophrenia

Multivariate genomewide linkage scan of neurocognitive traits and ADHD symptoms: suggestive linkage to 3q13.

New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis

PLINK: a tool set for whole-genome association and population-based linkage analyses

Pharmacogenetic analysis of genes implicated in rodent models of antidepressant response: association of TREK1 and treatment resistance in the STAR(*)D study

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

Population differences in the International Multi-Centre ADHD Gene Project

Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder

Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

Publisher Correction: Macro and micro sleep architecture and cognitive performance in older adults

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Support of association between BRD1 and both schizophrenia and bipolar affective disorder.

Synaptic, transcriptional and chromatin genes disrupted in autism

Testing for an unusual distribution of rare variants

The Genetics of Endophenotypes of Neurofunction to Understand Schizophrenia (GENUS) consortium: A collaborative cognitive and neuroimaging genetics project

The Promises and Pitfalls of Genoeconomics

The genetic architecture of type 2 diabetes

The genetic structure of the Swedish population

The genome-wide patterns of variation expose significant substructure in a founder population

Two independent alleles at 6q23 associated with risk of rheumatoid arthritis

Two quantitative trait loci for prepulse inhibition of startle identified on mouse chromosome 16 using chromosome substitution strains

Ultra-rare disruptive and damaging mutations influence educational attainment in the general population