List of works by Pamela Sklar

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

scientific article

20.4 MODELING THE CONTRIBUTION OF COMMON VARIANTS TO SCHIZOPHRENIA RISK.

scientific article published in April 2018

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

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

scientific article published on 25 September 2013

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

scientific article published on 15 May 2009

A molecular approach to treating cognition in schizophrenia by calcium channel blockade: An open-label pilot study of the calcium-channel antagonist isradipine

scientific article published on 18 May 2020

A polygenic burden of rare disruptive mutations in schizophrenia

scientific article

A role for noncoding variation in schizophrenia

scientific article

Absence of association with DAT1 polymorphism and response to methylphenidate in a sample of adults with ADHD

scientific article published on December 2006

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

scientific article

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

scientific article

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

scientific article published on 11 April 2016

Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts

scientific article published on 01 June 2020

Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

article

Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample

scientific article

Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia

scientific article

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

scientific article (publication date: 17 August 2016)

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Analysis of shared heritability in common disorders of the brain

Assessing the impact of population stratification on genetic association studies

scientific article

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

scientific article

Association between the 5HT1B receptor gene (HTR1B) and the inattentive subtype of ADHD.

scientific article published on 28 September 2005

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

scientific article

Author Correction: Expression-based drug screening of neural progenitor cells from individuals with schizophrenia

scientific article published in Nature Communications

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

scientific article

Cell-specific histone modification maps in the human frontal lobe link schizophrenia risk to the neuronal epigenome

scientific article published on 23 July 2018

Characterization of Single Gene Copy Number Variants in Schizophrenia

scientific article published on 04 October 2019

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

scientific article

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

scientific article

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

scientific article

Common DISC1 polymorphisms disrupt Wnt/GSK3β signaling and brain development

scientific article

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

scientific article

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

scientific article published on 26 February 2018

Comparative genetic architectures of schizophrenia in East Asian and European populations

scientific article published on 18 November 2019

Confirmation of prior evidence of genetic susceptibility to alcoholism in a genome-wide association study of comorbid alcoholism and bipolar disorder

scientific article

Conserved higher-order chromatin regulates NMDA receptor gene expression and cognition.

scientific article

Constance E. Lieber, Theodore R. Stanley, and the Enduring Impact of Philanthropy on Psychiatry Research

scientific article published on July 2016

Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases

scientific article published on 20 December 2018

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

scientific article

Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry

scientific article published on 07 October 2019

Correction: Improved Detection of Common Variants Associated with Schizophrenia and Bipolar Disorder Using Pleiotropy-Informed Conditional False Discovery Rate

scientific article published on 5 November 2015

Cover Image, Volume 173A, Number 2, February 2017

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

scientific journal article

De novo CNVs in bipolar affective disorder and schizophrenia

scientific article

De novo mutations in schizophrenia implicate synaptic networks

scientific article

Differential activity of transcribed enhancers in the prefrontal cortex of 537 cases with schizophrenia and controls

scientific article published on 08 May 2018

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

scholarly article published 3 June 2017

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

scientific article

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

scientific article published on 26 November 2018

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

scientific article

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

scientific article published on 21 April 2016

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

scientific article published on September 2017

Estimation of SNP heritability from dense genotype data

scientific article published on December 2013

Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia

scientific article published in Nature Communications

Evidence for genetic association of RORB with bipolar disorder

scientific article

Examining the role of common and rare mitochondrial variants in schizophrenia

scientific article published on 25 January 2018

Exome Sequencing of Familial Bipolar Disorder

scientific article

Exome sequencing and the genetic basis of complex traits

scientific article published on 29 May 2012

Expression-based drug screening of neural progenitor cells from individuals with schizophrenia

scientific article published in Nature Communications

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

scientific article published on 20 May 2012

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

scientific article

GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

scientific article

Gene expression elucidates functional impact of polygenic risk for schizophrenia

scientific article published on 26 September 2016

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

article

Gene expression imputation across multiple brain regions reveals schizophrenia risk throughout development

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

scientific article

Genetic analysis of schizophrenia and bipolar disorder reveals polygenicity but also suggests new directions for molecular interrogation

scientific article published on 24 December 2014

Genetic association and sequencing of the insulin-like growth factor 1 gene in bipolar affective disorder

scientific article published on 13 January 2011

Genetic differences between five European populations

scientific article published on 08 July 2010

Genetic predictors of risk and resilience in psychiatric disorders: a cross-disorder genome-wide association study of functional impairment in major depressive disorder, bipolar disorder, and schizophrenia

scientific article

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

scientific article

Genetic validation of bipolar disorder identified by automated phenotyping using electronic health records.

scientific article published on 18 April 2018

Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder

scientific article published on 07 April 2014

Genetics of bipolar disorder

scientific article published in The Lancet

Genetics of bipolar disorder: focus on BDNF Val66Met polymorphism.

scientific article published on January 2008

Genetics of bipolar disorder: successful start to a long journey

scientific article published on 12 January 2009

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

scientific article published in October 2013

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 suicide attempts in mood disorder patients

scientific article

Genome-wide significant locus for Research Diagnostic Criteria Schizoaffective Disorder Bipolar type

scientific article published on 29 August 2017

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

scientific article

Genomewide association study identifies 30 loci associated with bipolar disorder

Global landscape and genetic regulation of RNA editing in cortical samples from individuals with schizophrenia

scientific article published on 27 August 2019

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

scientific article published on December 2012

Human Induced Pluripotent Stem Cells: A New Model for Schizophrenia?

article

Identification of EFHC2 as a quantitative trait locus for fear recognition in Turner syndrome

scientific article

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

scientific article

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

scholarly article published 14 February 2018

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

scientific article published on 19 October 2016

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

scientific article published on March 2013

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

scientific article

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

scientific article published on 03 October 2016

Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai

scientific article

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

scientific article published on 20 December 2017

Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer's disease susceptibility

scientific article published on 08 October 2018

Investigation of parent-of-origin effects in ADHD candidate genes

scientific article

Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS.

scientific article

Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression

scientific article published on 22 May 2017

Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression

scientific article published on July 2017

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

Linkage disequilibrium mapping of the chromosome 6q21-22.31 bipolar I disorder susceptibility locus

scientific article

Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations

scientific article published on April 2009

Modifiers and subtype-specific analyses in whole-genome association studies: a likelihood framework

scientific article published on 17 August 2011

Molecular genetics of attention-deficit/hyperactivity disorder

scientific article

Mosaic copy number variation in schizophrenia

scientific article

Most genetic risk for autism resides with common variation ⬇️

scientific article

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

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

scientific article

Mutation intolerant genes and targets of FMRP are enriched for nonsynonymous alleles in schizophrenia

scientific article

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

scientific article

Nicotine dependence and psychosis in Bipolar disorder and Schizoaffective disorder, Bipolar type

scientific article published on 15 October 2015

No evidence for excess runs of homozygosity in bipolar disorder.

scientific article

No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia

scientific article

Non-random mating, parent-of-origin, and maternal-fetal incompatibility effects in schizophrenia

scientific article

O1.3. DIFFERENTIAL HISTONE MODIFICATIONS IN 250 SCHIZOPHRENIA CASES AND 330 CONTROLS

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

scientific article

Pilot investigation of isradipine in the treatment of bipolar depression motivated by genome-wide association.

scientific article published on 27 December 2013

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

scientific article

Polygenic overlap between schizophrenia risk and antipsychotic response: a genomic medicine approach

scientific article published on 22 February 2016

Practical Guidelines for High-Resolution Epigenomic Profiling of Nucleosomal Histones in Postmortem Human Brain Tissue.

scientific article

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder

scientific article

Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns.

scientific article published in July 2005

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

scientific article published on 01 July 2019

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

scientific article published on 01 June 2019

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 2016

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

scientific article

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

scientific article published on 17 July 2013

Schizophrenia: do the genetics and neurobiology of neuregulin provide a pathogenesis model?

scientific article

Serotonin gene polymorphisms and bipolar I disorder: focus on the serotonin transporter

scientific article

Specific glial functions contribute to schizophrenia susceptibility

scientific article

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

scientific article published in March 2010

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

Synergistic effects of common schizophrenia risk variants

scientific article published on 23 September 2019

The ANK3 bipolar disorder gene regulates psychiatric-related behaviors that are modulated by lithium and stress.

scientific article

The PsychENCODE project

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

The genetic structure of the Swedish population

scientific article published in 2011

The genomic psychiatry cohort: partners in discovery

scientific article published on 03 May 2013

Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with post-mortem adult brains.

scientific article published on 20 December 2017

Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with signatures from post mortem adult brains

article

Transcriptomic Imputation of Bipolar Disorder and Bipolar subtypes reveals 29 novel associated genes

article

Translating genome-wide association findings into new therapeutics for psychiatry

scientific article

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

scientific article

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

scientific article published on 03 October 2016

Validation of electronic health record phenotyping of bipolar disorder cases and controls

scientific article published on 12 December 2014

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

scientific article

Paulina is supported by:

About Paulina

Help