Lista de obras -

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

artículo científico publicado en 2017

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.

artículo científico publicado en 2018

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

artículo científico publicado en 2008

A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region

scholarly article by Agnes B. Baffoe-Bonnie et al published 22 October 2005 in Human Genetics

A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region.

artículo científico publicado en 2005

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

artículo científico publicado en 2006

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

artículo científico publicado en 2017

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

artículo científico publicado en 2010

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

artículo científico publicado en 2003

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

scientific article published on 30 July 2018

Biological, clinical and population relevance of 95 loci for blood lipids

artículo científico publicado en 2010

Chronic CD4+ T-cell activation and depletion in human immunodeficiency virus type 1 infection: type I interferon-mediated disruption of T-cell dynamics

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study

artículo científico publicado en 2017

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

scientific journal article

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2016

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits.

artículo científico publicado en 2013

Development and production of an oligonucleotide MuscleChip: use for validation of ambiguous ESTs

artículo científico publicado en 2002

Discovery and refinement of loci associated with lipid levels

artículo científico publicado en 2013

Dissection of the sets of genes that control the behavior of biglycan-deficient pre-osteoblasts using oligonucleotide microarrays.

artículo científico publicado en 2005

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

article by Jason Flannick et al published 22 May 2019 in Nature

General framework for meta-analysis of rare variants in sequencing association studies

scientific article published on 13 June 2013

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

artículo científico publicado en 2017

Genetic evidence of assortative mating in humans

article

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

artículo científico publicado en 2015

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

artículo científico publicado en 2018

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

artículo científico publicado en 2018

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

artículo científico publicado en 2017

Genome-wide analyses of steroid- and radiation-triggered programmed cell death in Drosophila.

artículo científico publicado en 2003

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

artículo científico publicado en 2011

Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13

article

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

artículo científico publicado en 2014

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

artículo científico publicado en 2015

Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study.

artículo científico publicado en 2018

Independent test assessment using the extreme value distribution theory

artículo científico publicado en 2016

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

artículo científico publicado en 2012

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

artículo científico publicado en 2012

LocusZoom: regional visualization of genome-wide association scan results

artículo científico publicado en 2010

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

artículo científico publicado en 2014

Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes

artículo científico publicado en 2013

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2010

No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levels

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19.

artículo científico publicado en 2016

Physical and transcript map of the hereditary prostate cancer region at xq27.

artículo científico publicado en 2002

Population bottlenecks as a potential major shaping force of human genome architecture

artículo científico publicado en 2007

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes

artículo científico publicado en 2018

Prosaposin is a regulator of progranulin levels and oligomerization

artículo científico publicado en 2016

Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease

artículo científico publicado en 2017

Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease

artículo científico publicado en 2019

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci

scientific article published on 30 January 2014

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

article

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

artículo científico publicado en 2018

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

artículo científico publicado en 2017

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2015

The centrosome in human genetic disease

artículo científico publicado en 2005

The genetic architecture of type 2 diabetes

artículo científico publicado en 2016

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

artículo científico publicado en 2012

Therapeutic targets for HIV-1 infection in the host proteome ⬇️

artículo científico publicado en 2005

Lista de obras de

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

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.

A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region

A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region.

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

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

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

Biological, clinical and population relevance of 95 loci for blood lipids

Chronic CD4+ T-cell activation and depletion in human immunodeficiency virus type 1 infection: type I interferon-mediated disruption of T-cell dynamics

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

Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits.

Development and production of an oligonucleotide MuscleChip: use for validation of ambiguous ESTs

Discovery and refinement of loci associated with lipid levels

Dissection of the sets of genes that control the behavior of biglycan-deficient pre-osteoblasts using oligonucleotide microarrays.

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

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

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

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

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

General framework for meta-analysis of rare variants in sequencing association studies

Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

Genetic evidence of assortative mating in humans

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

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

Genome-wide analyses of steroid- and radiation-triggered programmed cell death in Drosophila.

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

Identification of seven novel loci associated with amino acid levels using single-variant and gene-based tests in 8545 Finnish men from the METSIM study.

Independent test assessment using the extreme value distribution theory

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

LocusZoom: regional visualization of genome-wide association scan results

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levels

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

Omics-squared: human genomic, transcriptomic and phenotypic data for genetic analysis workshop 19.

Physical and transcript map of the hereditary prostate cancer region at xq27.

Population bottlenecks as a potential major shaping force of human genome architecture

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes

Prosaposin is a regulator of progranulin levels and oligomerization

Protein-Truncating Variants at the Cholesteryl Ester Transfer Protein Gene and Risk for Coronary Heart Disease

Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease

Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

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

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

The centrosome in human genetic disease

The genetic architecture of type 2 diabetes

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

Therapeutic targets for HIV-1 infection in the host proteome ⬇️