Lista de obras - Douglas Ruderfer - Dominio Público Uruguay

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

artículo científico publicado en 2017

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

A family-based study of common polygenic variation and risk of schizophrenia

artículo científico publicado en 2011

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

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

artículo científico publicado en 2017

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 exome sequence in 604 trios for recessive genotypes in schizophrenia.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

artículo científico publicado en 2011

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

artículo científico publicado en 2008

Bipolar disorder and a history of suicide attempts with a duplication in 5HTR1A.

artículo científico publicado en 2012

Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder.

artículo científico publicado en 2012

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

artículo científico publicado en 2008

Comprehensive polymorphism survey elucidates population structure of Saccharomyces cerevisiae

artículo científico publicado en 2009

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

artículo científico publicado en 2016

Copy number variation in schizophrenia in Sweden

artículo científico publicado en 2014

Copy number variation in subjects with major depressive disorder who attempted suicide

artículo científico publicado en 2012

Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

artículo científico publicado en 2017

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

artículo científico publicado en 2011

De novo mutations in schizophrenia implicate synaptic networks

artículo científico publicado en 2014

Deep phenotyping predicts Huntington's genotype

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

Family-based genetic risk prediction of multifactorial disease

artículo científico publicado en 2010

Fine-mapping reveals novel alternative splicing of the dopamine transporter

artículo científico publicado en 2010

Functional annotation of rare structural variation in the human brain

artículo científico publicado en 2020

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

artículo científico publicado en 2016

Genetic basis of individual differences in the response to small-molecule drugs in yeast

article

Genetic basis of proteome variation in yeast

artículo científico publicado en 2007

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

artículo científico publicado en 2015

Genetic modifiers and subtypes in schizophrenia: investigations of age at onset, severity, sex and family history

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Genome-wide analysis of nucleotide-level variation in commonly used Saccharomyces cerevisiae strains

artículo científico publicado en 2007

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 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 in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder

scientific journal article

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 of polymorphisms at nucleotide resolution with a single DNA microarray

artículo científico publicado en 2006

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

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

artículo científico publicado en 2012

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

artículo científico publicado en 2015

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

scholarly article published 14 February 2018

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

artículo científico publicado en 2013

Mosaic copy number variation in schizophrenia

artículo científico publicado en 2013

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

artículo científico publicado en 2015

No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

artículo científico publicado en 2016

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

scientific article published in Science

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

Population genomic analysis of outcrossing and recombination in yeast

artículo científico publicado en 2006

Rare chromosomal deletions and duplications increase risk of schizophrenia

artículo científico publicado en 2008

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

artículo científico publicado en 2013

Rare copy number variation in treatment-resistant major depressive disorder

artículo científico publicado en 2014

Revealing complex traits with small molecules and naturally recombinant yeast strains

artículo científico publicado en 2006

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

artículo científico publicado en 2016

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

artículo científico publicado en 2012

Telomere length as a quantitative trait: genome-wide survey and genetic mapping of telomere length-control genes in yeast.

artículo científico publicado en 2006

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

artículo científico publicado en 2012

Vaccine-preventable outbreaks: still with us after all these years

artículo científico

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

artículo científico publicado en 2014

Lista de obras de Douglas Ruderfer

1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

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

A family-based study of common polygenic variation and risk of schizophrenia

A polygenic burden of rare disruptive mutations in schizophrenia

A role for noncoding variation in schizophrenia

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

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 exome sequence in 604 trios for recessive genotypes in schizophrenia.

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

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

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

Bipolar disorder and a history of suicide attempts with a duplication in 5HTR1A.

Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder.

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

Comprehensive polymorphism survey elucidates population structure of Saccharomyces cerevisiae

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

Copy number variation in schizophrenia in Sweden

Copy number variation in subjects with major depressive disorder who attempted suicide

Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

De novo mutations in schizophrenia implicate synaptic networks

Deep phenotyping predicts Huntington's genotype

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

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

Family-based genetic risk prediction of multifactorial disease

Fine-mapping reveals novel alternative splicing of the dopamine transporter

Functional annotation of rare structural variation in the human brain

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Genetic basis of individual differences in the response to small-molecule drugs in yeast

Genetic basis of proteome variation in yeast

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

Genetic modifiers and subtypes in schizophrenia: investigations of age at onset, severity, sex and family history

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

Genome-wide analysis of nucleotide-level variation in commonly used Saccharomyces cerevisiae strains

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 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 in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder

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

Genome-wide detection of polymorphisms at nucleotide resolution with a single DNA microarray

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

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

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

Identifying tissues implicated in Anorexia Nervosa using Transcriptomic Imputation

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

Mosaic copy number variation in schizophrenia

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

No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study

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

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

Phenotype risk scores identify patients with unrecognized Mendelian disease patterns

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

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

Population genomic analysis of outcrossing and recombination in yeast

Rare chromosomal deletions and duplications increase risk of schizophrenia

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

Rare copy number variation in treatment-resistant major depressive disorder

Revealing complex traits with small molecules and naturally recombinant yeast strains

SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

Telomere length as a quantitative trait: genome-wide survey and genetic mapping of telomere length-control genes in yeast.

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

Vaccine-preventable outbreaks: still with us after all these years

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol