Lista de obras - Pamela Sklar - Dominio Público Uruguay

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

artículo científico publicado en 2017

20.4 MODELING THE CONTRIBUTION OF COMMON VARIANTS TO SCHIZOPHRENIA RISK.

artículo científico publicado en 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.

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2014

A role for noncoding variation in schizophrenia

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Analysis of shared heritability in common disorders of the brain

Assessing the impact of population stratification on genetic association studies

artículo científico publicado en 2004

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

Common DISC1 polymorphisms disrupt Wnt/GSK3β signaling and brain development

artículo científico publicado en 2011

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Comparative genetic architectures of schizophrenia in East Asian and European populations

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2014

De novo mutations in schizophrenia implicate synaptic networks

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Estimation of SNP heritability from dense genotype data

artículo científico publicado en 2013

Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia

artículo científico publicado en 2018

Evidence for genetic association of RORB with bipolar disorder

artículo científico publicado en 2009

Examining the role of common and rare mitochondrial variants in schizophrenia

artículo científico publicado en 2018

Exome Sequencing of Familial Bipolar Disorder

artículo científico publicado en 2016

Exome sequencing and the genetic basis of complex traits

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

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

artículo científico publicado en 2019

Gene expression elucidates functional impact of polygenic risk for schizophrenia

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico

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

artículo científico publicado en 2011

Genetic differences between five European populations

artículo científico

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2013

Genetics of bipolar disorder: focus on BDNF Val66Met polymorphism.

artículo científico publicado en 2008

Genetics of bipolar disorder: successful start to a long journey

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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 of suicide attempts in mood disorder patients

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

scholarly article published 14 February 2018

Implication of LRRC4C and DPP6 in neurodevelopmental disorders.

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Molecular genetics of attention-deficit/hyperactivity disorder

artículo científico publicado en 2005

Mosaic copy number variation in schizophrenia

artículo científico publicado en 2013

Most genetic risk for autism resides with common variation ⬇️

artículo científico publicado en 2014

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

No evidence for excess runs of homozygosity in bipolar disorder.

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

Specific glial functions contribute to schizophrenia susceptibility

artículo científico publicado en 2013

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

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.

artículo científico publicado en 2012

The PsychENCODE project

artículo científico publicado en 2015

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

artículo científico publicado en 2017

The genetic structure of the Swedish population

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2016

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

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Lista de obras de Pamela Sklar

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

20.4 MODELING THE CONTRIBUTION OF COMMON VARIANTS TO SCHIZOPHRENIA RISK.

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.

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

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

A polygenic burden of rare disruptive mutations in schizophrenia

A role for noncoding variation in schizophrenia

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

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

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

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

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

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

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

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

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

Analysis of shared heritability in common disorders of the brain

Analysis of shared heritability in common disorders of the brain

Assessing the impact of population stratification on genetic association studies

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

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

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

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

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

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

Characterization of Single Gene Copy Number Variants in Schizophrenia

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

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

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

Common DISC1 polymorphisms disrupt Wnt/GSK3β signaling and brain development

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

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

Comparative genetic architectures of schizophrenia in East Asian and European populations

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Estimation of SNP heritability from dense genotype data

Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia

Evidence for genetic association of RORB with bipolar disorder

Examining the role of common and rare mitochondrial variants in schizophrenia

Exome Sequencing of Familial Bipolar Disorder

Exome sequencing and the genetic basis of complex traits

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

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

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

Gene expression elucidates functional impact of polygenic risk for schizophrenia

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

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

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

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

Genetic differences between five European populations

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

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

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

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

Genetics of bipolar disorder

Genetics of bipolar disorder: focus on BDNF Val66Met polymorphism.

Genetics of bipolar disorder: successful start to a long journey

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

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