List of works - Douglas M. Ruderfer

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

scientific article

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

scientific article published on 12 April 2011

A polygenic burden of rare disruptive mutations in schizophrenia

scientific article

A role for noncoding variation in schizophrenia

scientific article

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

scientific article published on 31 May 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.

scientific article published on 21 July 2015

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

scientific article (publication date: 17 August 2016)

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 31 July 2012

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

scientific article

Comprehensive polymorphism survey elucidates population structure of Saccharomyces cerevisiae

scientific article published on 11 February 2009

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

scientific article

Copy number variation in schizophrenia in Sweden

scientific article

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

scientific article

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

scientific article published on 26 May 2017

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

scientific article

De novo mutations in schizophrenia implicate synaptic networks

scientific article

Deep phenotyping predicts Huntington's genotype

scientific article published on 01 August 2016

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

scientific article

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

Family-based genetic risk prediction of multifactorial disease

scientific article

Fine-mapping reveals novel alternative splicing of the dopamine transporter

scientific article

Functional annotation of rare structural variation in the human brain

scientific article published on 12 June 2020

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

scientific article

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

article

Genetic basis of proteome variation in yeast

scientific article

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

scientific article

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

scientific article published on 26 February 2014

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

scientific article

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

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 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 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

scientific article published in June 2021

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

scientific article published in Science

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

scientific article published on December 2012

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

scientific article

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

scientific article published on March 2013

Mosaic copy number variation in schizophrenia

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 17 August 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

scientific article

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

scientific article published on 22 February 2016

Population genomic analysis of outcrossing and recombination in yeast

scientific article

Rare chromosomal deletions and duplications increase risk of schizophrenia

scientific article

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

scientific article published on January 2013

Rare copy number variation in treatment-resistant major depressive disorder

scientific article

Revealing complex traits with small molecules and naturally recombinant yeast strains

scientific article published in March 2006

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

scientific article published on 5 December 2016

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

scientific article published on 19 April 2012

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

scientific article

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

scientific article

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

scientific article published on April 2015

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

scientific article

List of works by Douglas M. 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