List of works - Pamela Sklar

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

scientific article

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

scientific article (publication date: 17 August 2016)

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

scientific article

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

scientific article

Molecular genetics of attention-deficit/hyperactivity disorder

scientific article

Association between microdeletion and microduplication at 16p11.2 and autism

scientific article

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

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

scientific article

A polygenic burden of rare disruptive mutations in schizophrenia

scientific article

De novo mutations in schizophrenia implicate synaptic networks

scientific article

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

scientific article published in October 2013

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

scientific article

10 Years of GWAS Discovery: Biology, Function, and Translation

scientific article

Assessing the impact of population stratification on genetic association studies

scientific article

Most genetic risk for autism resides with common variation

scientific article

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

scientific article

Gene expression elucidates functional impact of polygenic risk for schizophrenia

scientific article published on 26 September 2016

Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions

scientific article

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

scientific article

Exome sequencing and the genetic basis of complex traits

scientific article published on 29 May 2012

Genomewide association studies: history, rationale, and prospects for psychiatric disorders

scientific article

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

scientific article

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse

article by Kerstin Lindblad-Toh et al published April 2000 in Nature Genetics

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

scientific article published on 26 February 2018

Genetics of bipolar disorder

scientific article published in The Lancet

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

scientific article published on 26 November 2018

Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia

scientific article

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

scientific article published on 03 October 2016

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

scientific article

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

scientific article

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

scientific article published on 11 April 2016

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

scientific article published on 20 May 2012

zCall: a rare variant caller for array-based genotyping: genetics and population analysis

scientific article

Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q

scientific article

The PsychENCODE project

scientific article

Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate

scientific article

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

scientific journal article

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 2016

A role for noncoding variation in schizophrenia

scientific article

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

scientific article

Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia

scientific article

Common DISC1 polymorphisms disrupt Wnt/GSK3β signaling and brain development

scientific article

A genomewide association study of response to lithium for prevention of recurrence in bipolar disorder.

scientific article published on 15 May 2009

Genetics of bipolar disorder: successful start to a long journey

scientific article published on 12 January 2009

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

scientific article

Evidence for genetic association of RORB with bipolar disorder

scientific article

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.

scientific article published on 26 June 2017

Estimation of SNP heritability from dense genotype data

scientific article published on December 2013

Dysregulation of miRNA-9 in a Subset of Schizophrenia Patient-Derived Neural Progenitor Cells

scientific article published on 21 April 2016

List of works by Pamela Sklar

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

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

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

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

Molecular genetics of attention-deficit/hyperactivity disorder

Association between microdeletion and microduplication at 16p11.2 and autism

Synaptic, transcriptional and chromatin genes disrupted in autism

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

A polygenic burden of rare disruptive mutations in schizophrenia

De novo mutations in schizophrenia implicate synaptic networks

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

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

10 Years of GWAS Discovery: Biology, Function, and Translation

Assessing the impact of population stratification on genetic association studies

Most genetic risk for autism resides with common variation

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

Gene expression elucidates functional impact of polygenic risk for schizophrenia

Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

Exome sequencing and the genetic basis of complex traits

Genomewide association studies: history, rationale, and prospects for psychiatric disorders

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

Analysis of shared heritability in common disorders of the brain

Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse

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

Genetics of bipolar disorder

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

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

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

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

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

zCall: a rare variant caller for array-based genotyping: genetics and population analysis

Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q

The PsychENCODE project

Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate

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

Quantifying prion disease penetrance using large population control cohorts

A role for noncoding variation in schizophrenia

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

Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia

Common DISC1 polymorphisms disrupt Wnt/GSK3β signaling and brain development

A genomewide association study of response to lithium for prevention of recurrence in bipolar disorder.

Genetics of bipolar disorder: successful start to a long journey

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

Evidence for genetic association of RORB with bipolar disorder

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.

Estimation of SNP heritability from dense genotype data

Dysregulation of miRNA-9 in a Subset of Schizophrenia Patient-Derived Neural Progenitor Cells