Lista de obras - Steven A McCarroll - Dominio Público Uruguay

115.3 Single-Cell Analysis of Adolescence and Other Critical Periods in Brain Development.

artículo científico publicado en 2017

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

A genome-wide association search for type 2 diabetes genes in African Americans

artículo científico publicado en 2012

A polygenic burden of rare disruptive mutations in schizophrenia

artículo científico publicado en 2014

A reference panel of 64,976 haplotypes for genotype imputation

artículo científico publicado en 2016

An integrated map of structural variation in 2,504 human genomes

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Author Correction: Innovations present in the primate interneuron repertoire

artículo científico publicado en 2020

CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1

artículo científico publicado en 2014

Cell diversity and network dynamics in photosensitive human brain organoids.

artículo científico publicado en 2017

Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

artículo científico publicado en 2014

Common deletion polymorphisms in the human genome.

artículo científico publicado en 2006

Comparative cellular analysis of motor cortex in human, marmoset and mouse

artículo científico publicado en 2021

Comparative transcriptomics reveals human-specific cortical features

artículo científico publicado en 2023

Comparing genomic expression patterns across species identifies shared transcriptional profile in aging

artículo científico

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

artículo científico publicado en 2016

Copy number variation and human genome maps

artículo científico publicado en 2010

Copy-number analysis goes more than skin deep

scientific article published on 01 January 2008

Copy-number variation and association studies of human disease

artículo científico publicado en 2007

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

artículo científico publicado en 2014

De novo CNVs in bipolar affective disorder and schizophrenia

artículo científico publicado en 2014

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

artículo científico publicado en 2009

De novo mutations in schizophrenia implicate synaptic networks

artículo científico publicado en 2014

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

artículo científico publicado en 2018

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

artículo científico publicado en 2008

Differential relationship of DNA replication timing to different forms of human mutation and variation

artículo científico publicado en 2012

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

scientific article published on 13 February 2011

Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease

artículo científico publicado en 2009

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: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

Exploring the variation within

artículo científico publicado en 2012

Finding the missing heritability of complex diseases

artículo científico publicado en 2009

Genes that act downstream of DAF-16 to influence the lifespan of Caenorhabditis elegans

artículo científico publicado en 2003

Genetic predisposition to mosaic Y chromosome loss in blood

scientific article published on 20 November 2019

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

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

artículo científico publicado en 2013

Genetic studies of body mass index yield new insights for obesity biology

artículo científico publicado en 2015

Genetic variation in human DNA replication timing

artículo científico publicado en 2014

Genetics. Our fallen genomes

artículo científico publicado en 2013

Genome-scale neurogenetics: methodology and meaning

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network

artículo científico publicado en 2013

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 SESTD1 as a novel risk gene for lithium-responsive bipolar disorder

scientific article published on 27 October 2015

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

artículo científico publicado en 2021

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

artículo científico publicado en 2007

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

scientific article published on 16 November 2020

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

article

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.

artículo científico publicado en 2018

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations

artículo científico publicado en 2017

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

artículo científico publicado en 2013

Identification of transcriptional regulatory elements in chemosensory receptor genes by probabilistic segmentation

artículo científico publicado en 2005

Innovations present in the primate interneuron repertoire

scientific article published on 30 September 2020

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

artículo científico publicado en 2008

Large multiallelic copy number variations in humans

artículo científico publicado en 2015

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

artículo científico publicado en 2015

Mapping and sequencing of structural variation from eight human genomes

artículo científico publicado en 2008

Mapping copy number variation by population-scale genome sequencing

artículo científico publicado en 2011

Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes

artículo científico

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

Monogenic and polygenic inheritance become instruments for clonal selection

artículo científico publicado en 2020

Multi-platform discovery of haplotype-resolved structural variation in human genomes

artículo científico publicado en 2019

NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis

artículo científico publicado en 2019

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

artículo científico publicado en 2015

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

New insights into the biological basis of genomic disorders.

artículo científico publicado en 2006

Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia

artículo científico publicado en 2015

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

artículo científico publicado en 2012

Of Rats and Men

artículo científico publicado en 2013

Overexpression of schizophrenia susceptibility factor human complement C4A promotes excessive synaptic loss and behavioral changes in mice

artículo científico publicado en 2020

Polygenic risk for type 2 diabetes mellitus among individuals with psychosis and their relatives

artículo científico publicado en 2016

Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology

artículo científico publicado en 2013

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

artículo científico publicado en 2018

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

artículo científico publicado en 2020

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

artículo científico publicado en 2016

Quantifying prion disease penetrance using large population control cohorts

artículo científico publicado en 2016

Random replication of the inactive X chromosome

scientific article published on 24 September 2013

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

artículo científico publicado en 2009

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

artículo científico publicado en 2015

Structural haplotypes and recent evolution of the human 17q21.31 region

artículo científico publicado en 2012

The genomics of major psychiatric disorders in a large pedigree from Northern Sweden

scientific article published on 04 February 2019

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

article

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

artículo científico publicado en 2016

Using population admixture to help complete maps of the human genome

artículo científico publicado en 2013

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

artículo científico publicado en 2012

Lista de obras de Steven A McCarroll

115.3 Single-Cell Analysis of Adolescence and Other Critical Periods in Brain Development.

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

A genome-wide association search for type 2 diabetes genes in African Americans

A polygenic burden of rare disruptive mutations in schizophrenia

A reference panel of 64,976 haplotypes for genotype imputation

An integrated map of structural variation in 2,504 human genomes

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

Author Correction: Innovations present in the primate interneuron repertoire

CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1

Cell diversity and network dynamics in photosensitive human brain organoids.

Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

Common deletion polymorphisms in the human genome.

Comparative cellular analysis of motor cortex in human, marmoset and mouse

Comparative transcriptomics reveals human-specific cortical features

Comparing genomic expression patterns across species identifies shared transcriptional profile in aging

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

Copy number variation and human genome maps

Copy-number analysis goes more than skin deep

Copy-number variation and association studies of human disease

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

De novo CNVs in bipolar affective disorder and schizophrenia

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

De novo mutations in schizophrenia implicate synaptic networks

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

Differential relationship of DNA replication timing to different forms of human mutation and variation

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease

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

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Exploring the variation within

Finding the missing heritability of complex diseases

Genes that act downstream of DAF-16 to influence the lifespan of Caenorhabditis elegans

Genetic predisposition to mosaic Y chromosome loss in blood

Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

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

Genetic studies of body mass index yield new insights for obesity biology

Genetic variation in human DNA replication timing

Genetics. Our fallen genomes

Genome-scale neurogenetics: methodology and meaning

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

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network

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

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

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

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

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

Identification of transcriptional regulatory elements in chemosensory receptor genes by probabilistic segmentation

Innovations present in the primate interneuron repertoire

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

Large multiallelic copy number variations in humans

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

Mapping and sequencing of structural variation from eight human genomes

Mapping copy number variation by population-scale genome sequencing

Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes

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

Monogenic and polygenic inheritance become instruments for clonal selection

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Multi-platform discovery of haplotype-resolved structural variation in human genomes

NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis

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

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

New insights into the biological basis of genomic disorders.

Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

Of Rats and Men

Overexpression of schizophrenia susceptibility factor human complement C4A promotes excessive synaptic loss and behavioral changes in mice

Polygenic risk for type 2 diabetes mellitus among individuals with psychosis and their relatives

Progress in the genetics of polygenic brain disorders: significant new challenges for neurobiology

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

Quantifying prion disease penetrance using large population control cohorts