List of works - Steven A McCarroll

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

scientific article published on 20 March 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

scientific article published on 4 January 2012

A polygenic burden of rare disruptive mutations in schizophrenia

scientific article

A rapid molecular approach for chromosomal phasing

scientific article

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A second generation human haplotype map of over 3.1 million SNPs

scientific article

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function

scientific article

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

scientific article

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

scientific article (publication date: 17 August 2016)

Author Correction: Innovations present in the primate interneuron repertoire

scientific article published on 24 November 2020

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

scientific article

Cell diversity and network dynamics in photosensitive human brain organoids.

scientific article published on 26 April 2017

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

scientific article

Common deletion polymorphisms in the human genome.

scientific article

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

scientific article published on 06 October 2021

Comparative transcriptomics reveals human-specific cortical features

scientific article published on 12 October 2023

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

scientific article published on 18 January 2004

Complex and multi-allelic copy number variation in human disease

scientific article

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

scientific article

Copy number variation and human genome maps

scientific article published on 01 May 2010

Copy number variation: new insights in genome diversity

scientific article

Copy-number analysis goes more than skin deep

scientific article published on 01 January 2008

Copy-number variation and association studies of human disease

scientific article

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

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

scientific article

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

scientific article

De novo CNVs in bipolar affective disorder and schizophrenia

scientific article

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

scientific article published on 13 July 2009

De novo mutations in schizophrenia implicate synaptic networks

scientific article

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

scientific article

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

scientific article published on September 2008

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

scientific article

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

scientific article

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

scientific article published in November 2011

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

scientific article published in May 2010

Exploring the variation within

scientific article published on 29 May 2012

Finding the missing heritability of complex diseases

scientific article

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

scientific article (publication date: 17 July 2003)

Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.

scientific article

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

scientific article

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

scientific article

Genetic variation in human DNA replication timing

scientific article

Genetics. Our fallen genomes

scientific article

Genome-scale neurogenetics: methodology and meaning

scientific article

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

scientific article published in October 2013

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

scientific article published on 26 February 2013

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

scientific article

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

scientific article

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

scientific article published in June 2021

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

scientific article

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

scientific article published on 9 April 2018

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

article

Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets

scientific article

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

scientific article

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

scientific article published on 14 April 2013

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

scientific article published in February 2005

Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes

scientific article

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

scientific article published on 07 September 2008

Large multiallelic copy number variations in humans

scientific article

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

scientific article

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

scientific article

Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis

scientific article

Mapping and sequencing of structural variation from eight human genomes

scientific article

Mapping copy number variation by population-scale genome sequencing

scientific article

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

scientific article published on 08 August 2013

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

scientific article

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Monogenic and polygenic inheritance become instruments for clonal selection

scientific article published on 24 June 2020

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

scientific article published on 16 April 2019

Mutational heterogeneity in cancer and the search for new cancer-associated genes

scientific article

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

scientific article published on 17 September 2019

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

scientific article

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

scientific article

New insights into the biological basis of genomic disorders

scientific article published in December 2006

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

scientific article

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

scientific article

Of Rats and Men

scientific article published on 01 August 2013

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

scientific article published on 22 December 2020

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

scientific article

Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.

scientific article

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

scientific article published on 23 February 2016

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

scientific article

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

scientific article published in Nature Communications

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

scientific article published on 01 April 2020

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

scientific article

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 2016

Random replication of the inactive X chromosome

scientific article published on 24 September 2013

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

scientific article

Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels.

scientific article

Schizophrenia risk from complex variation of complement component 4

scientific article

Single-tissue and cross-tissue heritability of gene expression via identity-by-descent in related or unrelated individuals

scientific article

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

scientific article

SnapShot-Seq: a method for extracting genome-wide, in vivo mRNA dynamics from a single total RNA sample

scientific article

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

scientific article

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

scientific article

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

scientific article published on 04 February 2019

The penetrance of copy number variations for schizophrenia and developmental delay.

scientific article

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

article

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

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

scientific article published on 03 October 2016

Using population admixture to help complete maps of the human genome

scientific article published on 24 February 2013

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

scientific article published on December 2012

List of works by 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 rapid molecular approach for chromosomal phasing

A reference panel of 64,976 haplotypes for genotype imputation

A second generation human haplotype map of over 3.1 million SNPs

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function

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

Complex and multi-allelic copy number variation in human disease

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 variation: new insights in genome diversity

Copy-number analysis goes more than skin deep

Copy-number variation and association studies of human disease

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

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

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage

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 association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.

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 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 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

Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets

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

Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes

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

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome

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

Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis

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

Mutational heterogeneity in cancer and the search for new cancer-associated genes