List of works by Mark Joseph Daly

(Epi)Genetic analyses of age-related macular degeneration: case-control and discordant twin studies

scientific article published on 12 July 2014

2014 Curt Stern Award: A tryst with genetics

scientific article published on March 2015

2018 William Allan Award Introduction: Eric S. Lander

article

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.

scientific article published on July 2016

A High Density Association Study of the Extended Major Histocompatibility Locus in Ulcerative Colitis

article published in 2007

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies

scientific article published on 13 April 2016

A Pleiotropic Missense Variant in SLC39A8 Is Associated With Crohn's Disease and Human Gut Microbiome Composition

scientific article

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

scientific article

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

scientific article

A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus

scientific article (publication date: May 2006)

A comprehensive genetic map of the mouse genome.

scientific article

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

A data-driven medication score predicts 10-year mortality among aging adults

scientific article published on 25 September 2020

A framework for the detection of de novo mutations in family-based sequencing data

scientific article

A framework for the interpretation of de novo mutation in human disease

scientific article (publication date: 3 August 2014)

A framework for variation discovery and genotyping using next-generation DNA sequencing data

scientific article (publication date: May 2011)

A genetic linkage map of the laboratory rat, Rattus norvegicus

scientific article published on 01 January 1995

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genome-wide association study identifies IL23R as an inflammatory bowel disease gene

scientific article

A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment

scientific article published on 28 January 2019

A genome-wide linkage and association scan reveals novel loci for autism

scientific article published on October 2009

A genome-wide scan for common variants affecting the rate of age-related cognitive decline

scientific article published on 4 November 2011

A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4.

scientific article

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16

scientific article

A high-density association screen of 155 ion transport genes for involvement with common migraine

scientific article

A high-density screen for linkage in multiple sclerosis

scientific article

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

scientific article published on 24 September 2006

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

scientific article

A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness

scientific article published on 09 March 2020

A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population

scientific article published on 11 November 2019

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

scientific article (publication date: 15 February 2001)

A mega-analysis of genome-wide association studies for major depressive disorder

scientific article

A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease

scientific journal article

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

scientific article published on 13 April 2020

A missense variant in SLC39A8 confers risk for Crohn's disease by disrupting manganese homeostasis and intestinal barrier integrity

scientific article published on 02 November 2020

A molecular-properties-based approach to understanding PDZ domain proteins and PDZ ligands

scientific article published on 6 July 2006

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

scientific article

A novel hybrid yeast-human network analysis reveals an essential role for FNBP1L in antibacterial autophagy

scientific article published on April 2009

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity

scientific article published on 16 October 2014

A pilot randomised controlled trial of a preconsultation web-based intervention to improve the care quality and clinical outcomes of diabetes outpatients (DIAT).

scientific article

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 09 August 2016

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

scientific article published on 23 October 2011

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

scientific article

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia

scientific article

A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis

scientific article published on 22 February 2016

A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis

scientific article published on March 2016

A second generation human haplotype map of over 3.1 million SNPs

scientific article

A second major histocompatibility complex susceptibility locus for multiple sclerosis

scientific article published on March 2007

A sequence-based variation map of 8.27 million SNPs in inbred mouse strains

scientific article published on 29 July 2007

A structural variation reference for medical and population genetics

scientific article published on 27 May 2020

A survey of allelic imbalance in F1 mice

scientific article published on 6 February 2008

A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population

ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration

scientific article published on 03 December 2010

ASD and ADHD have a similar burden of rare protein-truncating variants

ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties

scientific article published on 03 January 2017

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

article published in 2014

Abundant contribution of short tandem repeats to gene expression variation in humans

scientific article

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

scientific article

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

scientific article

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

scientific article

Allele-specific methylation occurs at genetic variants associated with complex disease

scientific article

Altered intestinal ACE2 levels are associated with inflammation, severe disease and response to anti-cytokine therapy in IBD

scientific article published on 02 November 2020

An Unexpectedly Complex Architecture for Skin Pigmentation in Africans.

scientific article published in November 2017

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

scientific article published on 26 April 2018

An atlas of genetic correlations across human diseases and traits

scientific article published on 28 September 2015

An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases

scientific article

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

scientific article published on 27 October 2020

An integrated haplotype map of the human major histocompatibility complex

scientific article

An open resource of structural variation for medical and population genetics

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 rare, exonic variation amongst subjects with autism spectrum disorders and population controls

scientific article

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

Androgen-sensitive hypertension associated with soluble guanylate cyclase alpha1 deficiency is mediated by 20-HETE.

scientific article published on 2 September 2015

Androgen-sensitive hypertension associated with soluble guanylate cyclase-α1 deficiency is mediated by 20-HETE.

scientific article published on 03 May 2016

Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics

scientific article

Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in Humans

scientific article published on 01 August 2019

Ascertainment Through Family History of Disease Often Decreases the Power of Family-based Association Studies

Assessment of genetic variant burden in epilepsy-associated brain lesions

scientific article published on 29 July 2019

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

scientific article published on 20 July 2015

Association analysis of NOTCH4 loci in schizophrenia using family and population-based controls

scientific article

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

scientific article

Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies

scientific article published on 25 April 2013

Association of DLG5 R30Q variant with inflammatory bowel disease

scientific article (publication date: July 2005)

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study

scientific article published on 15 July 2016

Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease

scientific article published on 01 February 2019

Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study

scientific article published on 30 December 2016

Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes

scientific article published on 01 August 2005

Association of the dopamine beta hydroxylase gene with attention deficit hyperactivity disorder: Genetic analysis of the Milwaukee longitudinal study ⬇️

scientific article published on May 15, 2003

Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration

scientific article

Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with type 2 diabetes

scientific article published on 01 December 2004

Association testing of common variants in the insulin receptor substrate-1 gene (IRS1) with type 2 diabetes

article

Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people

scientific article published in June 2005

Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people

scientific article published on 01 March 2005

Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent

scientific article published on July 2010

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination

scientific article (publication date: 23 May 2013)

Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense

scientific article

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

scientific article published on 25 November 2019

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences

scientific article

Autosomal monoallelic expression in the mouse

scientific article published on 20 February 2012

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

scientific article

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

Biases and reconciliation in estimates of linkage disequilibrium in the human genome

scientific article published on March 2006

Burden of unique and low prevalence somatic mutations correlates with cancer survival

C1orf106 is a colitis risk gene that regulates stability of epithelial adherens junctions.

scientific article

CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure

scientific article published on 17 May 2002

Ca2+/calmodulin-dependent protein kinase II is a modulator of CARMA1-mediated NF-kappaB activation

scientific article

Calibrating a coalescent simulation of human genome sequence variation

scientific article published on November 2005

Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe).

scientific article

Case-Control Genome-Wide Association Study of Attention-Deficit/Hyperactivity Disorder ⬇️

scientific article published on August 5, 2010

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

article

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

scientific article published on 04 February 2019

Characterization of candidate genes in inflammatory bowel disease-associated risk loci

scientific article published on 18 August 2016

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

scientific article

Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients with Crohn's Disease

scientific article published on 15 February 2018

Clinical use of current polygenic risk scores may exacerbate health disparities

scientific article published on 29 March 2019

Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles

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 SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13

scientific article

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published 16 May 2018 in Neuron

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published September 2018 in Neuron

Common Variants in the ENPP1 Gene Are Not Reproducibly Associated With Diabetes or Obesity

article

Common and rare variant prediction and penetrance of IBD in a large, multi-ethnic, health system-based biobank cohort

scientific article published on 24 December 2020

Common body mass index-associated variants confer risk of extreme obesity

scientific article

Common body mass index-associated variants confer risk of extreme obesity

Common deletion polymorphisms in the human genome.

scientific article

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Common genetic variants differentially influence the transition from clinically defined states of fasting glucose metabolism

scientific article published on 29 October 2011

Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits

scientific article

Common risk variants identified in autism spectrum disorder

Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals

scientific article published on 01 October 2006

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

scientific article published on 14 September 2008

Common variants at five new loci associated with early-onset inflammatory bowel disease

scientific article

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

scientific article

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

scientific article

Comparative genetic architectures of schizophrenia in East Asian and European populations

scientific article published on 18 November 2019

Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction

scientific article

Complex host genetics influence the microbiome in inflammatory bowel disease

scientific article

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

scientific article

Comprehensive association testing of common mitochondrial DNA variation in metabolic disease

scientific article

Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants

scientific article published on 26 October 2020

Consistently replicating locus linked to migraine on 10q22-q23

scientific article published on May 2008

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

scientific article

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

scholarly article published 28 May 2018

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

scientific article published in Nature Communications

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

Correction: Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorder

scientific article published on 08 December 2020

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

scientific article published on 21 October 2019

Corrigendum: High-throughput discovery of novel developmental phenotypes.

scientific article published on 8 November 2017

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

DGAT1 mutation is linked to a congenital diarrheal disorder

scientific article

De novo Variants In Neurodevelopmental Disorders With Epilepsy

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

scientific article published on December 2015

De novo variants in neurodevelopmental disorders with epilepsy

scientific article published on 25 June 2018

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

article published in 2017

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

scientific article

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

scientific article

Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis

scientific article

Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders

scientific article published on 04 August 2013

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

scientific article published on September 2008

Diabetes, dependence, asymptotics, selection and significance

scientific article published on 01 October 1997

Diagnostic misclassification reduces the ability to detect linkage in inflammatory bowel disease genetic studies

scientific article

Direct or indirect association in a complex disease: the role ofSLC22A4 andSLC22A5 functional variants in Crohn disease

article

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

scholarly article published 3 June 2017

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

scientific article published on 26 November 2018

Disruption of neurexin 1 associated with autism spectrum disorder

scientific article

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Do multiple data sets provide support for a bipolar illness susceptibility locus on chromosome 18?

scientific article

Dopaminergic genotype biases spatial attention in healthy children

scientific article

Efficiency and power in genetic association studies

scientific article

Efficient control of population structure in model organism association mapping

scientific article published on March 2008

Efficient multipoint linkage analysis through reduction of inheritance space

scientific article

Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping

article

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

scientific article published on 22 June 2020

Erratum: A comprehensive genetic map of the mouse genome

scientific article published in Nature

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis

scientific article published on 13 September 2016

Erratum: Corrigendum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scholarly article published in Nature Genetics

Erratum: Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article published in October 2016

Erratum: Corrigendum: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study

scholarly article published in Nature Genetics

Erratum: Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scholarly article published in Nature Genetics

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Established genetic risk factors do not distinguish early and later onset Crohn's disease

scientific article published on October 2009

Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

scientific article

Estimation of the multiple testing burden for genomewide association studies of nearly all common variants

scientific article (publication date: May 2008)

Evaluating and improving power in whole-genome association studies using fixed marker sets.

scientific article published on 21 May 2006

Evaluating drug targets through human loss-of-function genetic variation

scientific article published on 27 May 2020

Evaluating potential drug targets through human loss-of-function genetic variation

scientific article

Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia

scientific article published on 22 January 2006

Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes

article

Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men

article

Exact multipoint quantitative-trait linkage analysis in pedigrees by variance components

scientific article

Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion

scientific article

Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease

scientific article published on 16 July 2015

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

scientific article published on 25 November 2019

Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations

scientific article published on 13 January 2020

Exome sequencing in suspected monogenic dyslipidemias

scientific article

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

scientific article

Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts

scientific article published on 23 September 2014

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

scientific article published on 20 May 2012

Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33.

scientific article

Fine mapping in 94 inbred mouse strains using a high-density haplotype resource

scientific article

Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers

scientific article

Fine-Scale Genetic Structure in Finland

scientific article published on 5 October 2017

Fine-mapping inflammatory bowel disease loci to single-variant resolution

scientific article

Fine-mapping of genetic loci driving spontaneous clearance of hepatitis C virus infection

scientific article published on 20 November 2017

Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging

scientific article

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

scientific article published in January 2018

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

scientific article published on 07 August 2020

Gender Disparity and Mutation Burden in Metastatic Melanoma

scientific article

Gene family information facilitates variant interpretation and identification of disease-associated genes

article

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

scientific article published on 17 March 2020

Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis

scientific article

Genetic Coding Variant in GPR65 Alters Lysosomal pH and Links Lysosomal Dysfunction with Colitis Risk

scientific article published on 6 June 2016

Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids

scientific article published on 12 April 2012

Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines

scientific article

Genetic analysis of multiple sclerosis

Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease

scientific article published on 01 February 2019

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

scientific article

Genetic and epigenetic fine mapping of causal autoimmune disease variants

scientific article

Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis

scholarly article

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

scientific article published on 24 September 2019

Genetic architectures of psychiatric disorders: the emerging picture and its implications

scientific article

Genetic association of Alzheimer's disease with multiple polymorphisms in alpha-2-macroglobulin.

scientific article published on 9 September 2003

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population.

scientific article published in November 1997

Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia

scientific article

Genetic mapping in human disease

scientific article (publication date: 7 November 2008)

Genetic mapping of a modifier locus affecting hypertension in soluble guanylate cyclase α1 deficient mice.

scientific article published in August 2011

Genetic mapping of a murine locus controlling development of T helper 1/T helper 2 type responses

scientific article published on October 1996

Genetic modifiers of hypertension in soluble guanylate cyclase α1-deficient mice

scientific article

Genetic modifiers of hypertension in soluble guanylate cyclase α1–deficient mice.

scientific article published in August 2012

Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach

scientific article

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

scientific article

Genetic resistance to diet-induced obesity in chromosome substitution strains of mice

scientific article published on 03 February 2010

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

scientific article published on 21 March 2016

Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.

scientific article published on 28 March 2018

Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk

scientific article

Genetic variants in cellular transport do not affect mesalamine response in ulcerative colitis.

scientific article

Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis

scientific article published on 6 February 2009

Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus

scientific journal article

Genetic variation in laboratory mice

scientific article

Genetic variation in myosin IXB is associated with ulcerative colitis

scientific article

Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease

article

Genetics of 35 blood and urine biomarkers in the UK Biobank

Genome sequence, comparative analysis and haplotype structure of the domestic dog

scientific article

Genome-Wide Association Study Reveals First Locus for Anorexia Nervosa and Metabolic Correlations

scholarly article

Genome-wide analysis of immune system genes by expressed sequence Tag profiling

scientific article published on 24 April 2013

Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels

scientific article (publication date: June 2007)

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

scientific article

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

scientific article

Genome-wide association identifies multiple ulcerative colitis susceptibility loci

scientific article

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

scientific article

Genome-wide association scan of attention deficit hyperactivity disorder

scientific article

Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations

scientific journal article

Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder

scientific article

Genome-wide association studies for common diseases and complex traits

scientific article (publication date: February 2005)

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae

scientific article

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

scientific article

Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis

scientific article

Genome-wide association study implicates CHRNA2 in cannabis use disorder

scientific article published on 17 June 2019

Genome-wide association study implicatesCHRNA2in cannabis use disorder

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

scientific article

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

scientific article

Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae

scientific article published on 15 February 2009

Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.

scientific article

Genome-wide association study of serious blistering skin rash caused by drugs

article

Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia

scientific article published on 24 October 2017

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

scientific article published on 01 December 2018

Genome-wide detection and characterization of positive selection in human populations

scientific article

Genome-wide enhancer maps link risk variants to disease genes

scientific article published on 07 April 2021

Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS)

scientific article

Genome-wide meta-analysis identifies new susceptibility loci for migraine

scientific article

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

scientific article published on 22 January 2015

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci

scientific article

Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis

scientific article

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

scientific article

Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22.

scientific article

Genomewide linkage analysis of stature in multiple populations reveals several regions with evidence of linkage to adult height

scientific article

Genomewide scan of multiple sclerosis in Finnish multiplex families

scientific article

Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci

article

Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study

scientific article

Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci

scientific article

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland

scientific article published on 30 May 2019

Germline mutations affecting Gα11 in hypoparathyroidism

scientific article published on June 2013

Germline mutations in lysine specific demethylase 1 (LSD1/KDM1A) confer susceptibility to multiple myeloma.

scientific article published on 20 March 2018

Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research

scientific article published on 06 May 2020

Guideline-based and bioinformatic reassessment of lesion-associated gene and variant pathogenicity in focal human epilepsies

article

Guilt beyond a reasonable doubt

scientific article published on 01 July 2007

HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin

scientific article

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

scholarly article by Alicia R Martin et al published 3 May 2018 in American Journal of Human Genetics

Haplotype analysis of tumour necrosis factor receptor genes in 1p36: no evidence for association with systemic lupus erythematosus

article

Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region

scientific article published in May 2004

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

Haplotype structure of TNFRSF5-TNFSF5 (CD40-CD40L) and association analysis in systemic lupus erythematosus

scientific article published in May 2005

Haplotype structures and large-scale association testing of the 5' AMP-activated protein kinase genes PRKAA2, PRKAB1, and PRKAB2 [corrected] with type 2 diabetes

scientific article published in March 2006

Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19

article

Haplotype-based identification of a microsomal transfer protein marker associated with the human lifespan

scientific article

Haploview: analysis and visualization of LD and haplotype maps

scientific article (publication date: 15 January 2005)

Heart development in fibronectin-null mice is governed by a genetic modifier on chromosome four

scientific article published on 02 June 2007

Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

scientific article published on 16 November 2020

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes

scientific journal article

Heritability of the weight loss response to gastric bypass surgery

scientific article

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.

scientific article

High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people

scientific article published in January 2006

High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis

scientific article

High-resolution haplotype structure in the human genome

article

High-throughput discovery of novel developmental phenotypes

scientific article published on 14 September 2016

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

scientific article

Histocompatible embryonic stem cells by parthenogenesis

scientific article published on 14 December 2006

Host genetic variation and its microbiome interactions within the Human Microbiome Project

scientific article published on 29 January 2018

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

scientific article

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

scientific article published on 28 March 2017

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

scientific article published on 01 October 2020

Human demographic history impacts genetic risk prediction across diverse populations

Human genome sequence variation and the influence of gene history, mutation and recombination

scientific article

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

scientific article

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

scientific article published on April 2017

Human knockouts in a cohort with a high rate of consanguinity

Human loss-of-function variants suggest that partial LRRK2 inhibition is a safe therapeutic strategy for Parkinson’s disease

scientific article

IBD5 is a general risk factor for inflammatory bowel disease: replication of association with Crohn disease and identification of a novel association with ulcerative colitis

scientific article

IBD5 is associated with an extensive complicated Crohn's disease feature: implications from genotype-phenotype analysis

scientific article published on January 2007

IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family

scientific article

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

scientific article

Identification of common genetic risk variants for autism spectrum disorder

scientific article published on 25 February 2019

Identification of novel genes that mediate innate immunity using inbred mice

scientific journal article

Identification of pathogenic variant enriched regions across genes and gene families

scientific article published on 23 December 2019

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder

scientific article

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

scientific article

Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders

scientific article published on 11 April 2019

Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant

scientific article

Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population

scientific article

Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs

scientific article published on 19 February 2004

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

scientific article

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

scientific article published on 14 October 2020

Initial sequencing and comparative analysis of the mouse genome

scientific article

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

scientific article

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

scientific article

Integrated Genomics of Crohn's Disease Risk Variant Identifies a Role for CLEC12A in Antibacterial Autophagy

scientific article published on 18 June 2015

Integrated detection and population-genetic analysis of SNPs and copy number variation

scientific article (publication date: October 2008)

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

scientific article published on 07 September 2008

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

scientific article

Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets

article published in 2011

Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets

scientific article

Integrating common and rare genetic variation in diverse human populations

scientific article (publication date: 2 September 2010)

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

scientific article

International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

scientific article published on 08 October 2019

Interpreting de novo Variation in Human Disease Using denovolyzeR.

scientific article published on 6 October 2015

Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis

scientific article published on 01 July 2019

Investigating Women's Experiences of Asthma Care in Pregnancy: A Qualitative Study

scientific article

Ipr1 gene mediates innate immunity to tuberculosis

scientific article

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

scientific article published on 2 February 2015

LRRK2 is involved in the IFN-gamma response and host response to pathogens

scientific article

Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies

scientific article

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder

scientific article published on 20 March 2013

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

scientific article published on 23 January 2020

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

Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability.

scientific article published on 25 April 2017

Largest genome-wide association study for PTSD identifies genetic risk loci in European and African ancestries and implicates novel biological pathways

article published in 2018

Late-Onset Crohn's Disease Is A Subgroup Distinct in Genetic and Behavioral Risk Factors With UC-Like Characteristics

scientific article published on 01 October 2018

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 24 September 2014

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

scientific article published on 02 January 2015

Linkage disequilibrium and haplotype structure of five GABAA receptor subunit genes investigated for association with schizophrenia

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Linkage thresholds for two-stage genome scans

scientific article published in April 1998

Lower-than-expected linkage disequilibrium between tightly linked markers in humans suggests a role for gene conversion

scientific article

MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations

scientific article (publication date: October 1987)

MAST3: a novel IBD risk factor that modulates TLR4 signaling

scientific article published on 24 July 2008

MISCAST: MIssense variant to protein StruCture Analysis web SuiTe

scientific article published on 13 May 2020

MYO9B polymorphisms in multiple sclerosis

scientific article published on 14 January 2009

Mapping autoimmune disease genes in humans: lessons from IBD and SLE

scientific article published on 01 January 2005

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

scientific article published on 8 April 2022

Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases

scientific article published on 21 October 2009

Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.

scientific article

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.

scientific article published on 24 April 2018

Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder ⬇️

scientific article published on August 1, 2010

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

scientific journal article

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

scientific article

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

scientific article

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

scientific article

Meta-analysis of genome-wide association studies

scientific article published on 01 June 2010

Methods for high-density admixture mapping of disease genes

scientific article

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

scientific article

Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches

scientific article

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

scientific article

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Mosaic mutations in blood DNA sequence are associated with solid tumor cancers

scientific article published on 6 July 2017

Multiomics Analyses to Deliver the Most Effective Treatment to Every Patient With Inflammatory Bowel Disease

scientific article published on 02 August 2018

Multipoint linkage analysis of the cystic fibrosis region

scientific article published in January 1989

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

scientific article

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.

scientific article

Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

scientific article

Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation

scientific article

Network analysis of genome-wide selective constraint reveals a gene network active in early fetal brain intolerant of mutation

article

Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures

scientific article published on 16 September 2020

New approaches to gene hunting in IBD.

scientific article published in May 2004

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

scientific article

New models of collaboration in genome-wide association studies: the Genetic Association Information Network

scientific article (publication date: September 2007)

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research

scientific article

No bias in linkage analysis

scientific article published on October 2004

No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins

scientific article published on 26 January 2015

Not All Autism Genes Are Created Equal: A Response to Myers et al

scientific article published on 01 November 2020

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

OR.102. The CD58 Pathway is Implicated in MS Susceptibility

On the level: IRGM gene function is all about expression

scientific article published on 25 January 2009

Ozone-induced acute lung injury: genetic analysis of F(2) mice generated from A/J and C57BL/6J strains

scientific article

PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes

scientific article (publication date: July 2003)

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

scientific article

Pamela Sklar (1959-2017).

scientific article published in February 2018

Parametric and nonparametric linkage analysis: a unified multipoint approach

scientific article (publication date: June 1996)

Parental phenotypes in family-based association analysis

scientific article

Partitioning heritability by functional annotation using genome-wide association summary statistics

scientific article

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

scientific article

Partners in crime

scientific article published on 01 April 2005

Paternal-age-related de novo mutations and risk for five disorders

scientific article published on 10 July 2019

Patterns and rates of exonic de novo mutations in autism spectrum disorders

scientific article

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

scientific article published on 17 August 2016

Pervasive sharing of genetic effects in autoimmune disease

scientific article

Phenome-wide association studies across large population cohorts support drug target validation

scientific article published in Nature Communications

Phenotypic extremes in rare variant study designs

scientific article published on 9 September 2015

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

scientific article (publication date: 11 August 2012)

Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

scientific article published on 21 March 2019

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

scientific article published on 07 April 2020

Polygenic burden in focal and generalized epilepsies

scientific article published on 01 November 2019

Polygenic risk heterogeneity among focal epilepsies

scientific article published on 14 October 2020

Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants ⬇️

scientific article

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

article

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

scientific article published on 15 May 2017

Population Histories of the United States Revealed through Fine-Scale Migration and Haplotype Analysis

scientific article published on 01 March 2020

Predicting Polygenic Risk of Psychiatric Disorders

scientific article published on 28 December 2018

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

scientific article published on 01 August 2020

Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables

scientific article

Prevalence and Effect of Genetic Risk of Thrombo-embolic Disease in Inflammatory Bowel Disease

scientific article published on 19 October 2020

Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study

scientific article published on 07 June 2018

Principles and methods of in-silico prioritization of non-coding regulatory variants

scientific article published on 29 December 2017

Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models

scientific article published on 21 March 2012

Protective Low-Frequency Variants for Preeclampsia in the Fms Related Tyrosine Kinase 1 Gene in the Finnish Population

scientific article published on 26 June 2017

Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.

scientific article published on 22 December 2016

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

scientific article

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

scientific article published in Nature Communications

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

scientific article published on 01 April 2020

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

scientific article published on 01 February 2020

Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

scientific article published on 16 March 2018

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 2016

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.

scientific article published on 31 October 2016

RICOPILI: Rapid Imputation for COnsortias PIpeLIne

scientific article published on 01 February 2020

Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

scientific article published on February 1995

Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing. ⬇️

scientific article published in December 2017

Rare coding variants in ten genes confer substantial risk for schizophrenia

article

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

scientific article published on January 2013

Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.

scientific article

Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels

scientific article published on 18 March 2015

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

scientific article

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

scientific article published on 05 May 2020

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

scientific article published on 15 September 2013

Recessive gene disruptions in autism spectrum disorder

scientific article published on 17 June 2019

Reduced expression of COVID-19 host receptor, ACE2 is associated with small bowel inflammation, more severe disease, and response to anti-TNF therapy in Crohn′s disease

scientific article published on 23 April 2020

Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease

article

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

scientific article published on 13 February 2017

Renal disease susceptibility and hypertension are under independent genetic control in the fawn-hooded rat

scientific article published on 01 January 1996

Replicating genotype-phenotype associations

scientific article (publication date: 7 June 2007)

Reply to 'Selective effects of heterozygous protein-truncating variants'

scientific article published on 01 January 2019

Reply to Cipriani et al.

scientific article

Reply to Tenesa et al ‘Association of DLG5 and inflammatory bowel disease across populations’

Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis'.

scientific article published on 22 October 2013

Risk alleles for multiple sclerosis identified by a genomewide study

scientific article (publication date: 30 August 2007)

Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors

scientific article

SLC39A8 missense variant is associated with Crohn's disease but does not have a major impact on gut microbiome composition in healthy subjects

scientific article published in PLoS ONE

SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease

scientific article

Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

scientific article published on 18 May 2020

Schizophrenia risk from complex variation of complement component 4

scientific article

Searching for missing heritability: designing rare variant association studies

scientific article published on 17 January 2014

Segmental phylogenetic relationships of inbred mouse strains revealed by fine-scale analysis of sequence variation across 4.6 mb of mouse genome

scientific article

Selective modulation of autophagy, innate immunity, and adaptive immunity by small molecules

scientific article

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 19 December 2017

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

scientific article published on 19 April 2012

Serrate2 is disrupted in the mouse limb-development mutant syndactylism

scientific article

Seven new loci associated with age-related macular degeneration

scientific article

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

scholarly article published 25 June 2018

Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa

scientific article published on 12 May 2017

Small-molecule inhibitors directly target CARD9 and mimic its protective variant in inflammatory bowel disease

scientific article

Stochastic yet biased expression of multiple Dscam splice variants by individual cells

scientific article

Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes

scientific article published on 27 January 2006

Support for involvement of neuregulin 1 in schizophrenia pathophysiology

Survey of variation in human transcription factors reveals prevalent DNA binding changes

scientific article

Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles

scientific article

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae

scientific article (publication date: 18 August 2009)

TMEM258 Is a Component of the Oligosaccharyltransferase Complex Controlling ER Stress and Intestinal Inflammation

scientific article published in December 2016

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

scientific article published on 06 May 2019

Testing for an unusual distribution of rare variants

scientific article

The ExAC Browser: Displaying reference data information from over 60,000 exomes

The ExAC browser: displaying reference data information from over 60 000 exomes

scientific article

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

scientific article (publication date: September 2010)

The Krüppel-like factor 11 (KLF11) Q62R polymorphism is not associated with type 2 diabetes in 8,676 people

scientific article

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders

scientific article

The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

scientific article

The critical needs and challenges for genetic architecture studies in Africa

article

The effect of LRRK2 loss-of-function variants in humans

scientific article published on 27 May 2020

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity

scientific article

The functional spectrum of low-frequency coding variation

scientific article published on 14 September 2011

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The genome-wide patterns of variation expose significant substructure in a founder population

scientific article (publication date: December 2008)

The iPSYCH2012 case-cohort sample: New directions for unravelling genetic and environmental architectures of severe mental disorders

The importance of being independent: sib pair analysis in diabetes

scientific article published on 01 October 1996

The landscape of somatic copy-number alteration across human cancers

scientific article

The mosaic structure of variation in the laboratory mouse genome

scientific article published in Nature

The mutational constraint spectrum quantified from variation in 141,456 humans

scientific article published on 27 May 2020

The mutational constraint spectrum quantified from variation in 141,456 humans

scientific article published on 28 January 2019

The role of the CD58 locus in multiple sclerosis

scientific article

The role of the Toll receptor pathway in susceptibility to inflammatory bowel diseases

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The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation

scientific article published on 04 August 2020

The structure of haplotype blocks in the human genome

scientific article

The value of gene-based selection of tag SNPs in genome-wide association studies

scientific article published on 28 June 2006

The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression

scientific article published on May 1997

Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus

scholarly article

Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power

Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

scientific article published on 23 March 2020

Transcript expression-aware annotation improves rare variant discovery and interpretation

scientific article

Transcript expression-aware annotation improves rare variant interpretation

scientific article published on 27 May 2020

Transferability of tag SNPs in genetic association studies in multiple populations

scientific article published on 22 October 2006

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Two independent alleles at 6q23 associated with risk of rheumatoid arthritis

scientific article

Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland

scientific article

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

scientific article

Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation

scientific article published on October 2015

Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study

scientific article

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

scientific article published on 03 October 2016

Untangling the genetics of a complex disease.

scientific article published in August 1998

Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.

scientific article published on 16 February 2009

Using a Genome-Wide Scan and Meta-analysis to Identify a Novel IBD Locus and Confirm Previously Identified IBD Loci

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Validating, augmenting and refining genome-wide association signals

scientific article

Variant Score Ranker-a web application for intuitive missense variant prioritization

scientific article published on 01 November 2019

Variant TREM2 as risk factor for Alzheimer's disease

scientific article published on 14 November 2012

Variation in complement factor 3 is associated with risk of age-related macular degeneration

scientific article

Variation in genome-wide mutation rates within and between human families

scientific article

Variation near complement factor I is associated with risk of advanced AMD

scientific article

WHAP: haplotype-based association analysis

scientific article

Weight loss after gastric bypass is associated with a variant at 15q26.1.

scientific article published on May 2013

What have we learned from six years of GWAS in autoimmune diseases, and what is next?

scientific article published on 24 September 2012

Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD

scientific article published on 10 July 2020

Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.

scientific article

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Whole genome sequencing in psychiatric disorders: the WGSPD consortium.

scientific article published in December 2017

Whole population, genome-wide mapping of hidden relatedness

scientific article

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

scientific article

Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom

scientific article published on February 2017

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

scientific article

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