Lista de obras - Michael Preuss - Dominio Público Uruguay

A beginners guide to SNP calling from high-throughput DNA-sequencing data

artículo científico publicado en 2012

A catalog of genetic loci associated with kidney function from analyses of a million individuals

scientific article published on 31 May 2019

A common loss-of-function variant is associated with lower vitamin B concentration in African Americans

scholarly article by Yao Hu et al published 21 June 2018 in Blood

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

artículo científico publicado en 2021

A large-scale transcriptome-wide association study (TWAS) of ten blood cell phenotypes reveals complexities of TWAS fine-mapping

Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies

artículo científico publicado en 2021

Apolipoprotein E gene polymorphisms and intraventricular haemorrhage in infants born preterm: a large prospective multicentre cohort study

scientific article published on 07 August 2018

Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls

artículo científico publicado en 2010

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

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

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

artículo científico publicado en 2019

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

scientific article published on 01 September 2019

FTO genotype is associated with phenotypic variability of body mass index

artículo científico publicado en 2012

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

artículo científico publicado en 2018

Genetic Diversity Turns a New PAGE in Our Understanding of Complex Traits

Genetic analyses of diverse populations improves discovery for complex traits

scientific article published on 19 June 2019

Genetic evidence of assortative mating in humans

scholarly article

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 association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

artículo científico publicado en 2012

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

artículo científico publicado en 2011

Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities

artículo científico publicado en 2021

Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease

artículo científico publicado en 2009

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Hundreds of variants clustered in genomic loci and biological pathways affect human height

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

artículo científico publicado en 2011

Less invasive surfactant administration is associated with improved pulmonary outcomes in spontaneously breathing preterm infants

artículo científico publicado en 2015

Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

artículo científico publicado en 2020

Mitochondrial mutation m.1555A>G as a risk factor for failed newborn hearing screening in a large cohort of preterm infants

artículo científico publicado en 2014

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

scientific article published on 21 May 2020

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

artículo científico publicado en 2013

RANTES/CCL5 and risk for coronary events: results from the MONICA/KORA Augsburg case-cohort, Athero-Express and CARDIoGRAM studies

artículo científico publicado en 2011

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

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

artículo científico publicado en 2019

The association of mannose-binding lectin 2 polymorphisms with outcome in very low birth weight infants

artículo científico publicado en 2017

The power of genetic diversity in genome-wide association studies of lipids

The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population

artículo científico publicado en 2020

Whole genome sequence association with E-selectin levels reveals Loss-of-function variant in African Americans

artículo científico publicado en 2019

Lista de obras de Michael Preuss

A beginners guide to SNP calling from high-throughput DNA-sequencing data

A catalog of genetic loci associated with kidney function from analyses of a million individuals

A common loss-of-function variant is associated with lower vitamin B concentration in African Americans

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

A large-scale transcriptome-wide association study (TWAS) of ten blood cell phenotypes reveals complexities of TWAS fine-mapping

Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies

Apolipoprotein E gene polymorphisms and intraventricular haemorrhage in infants born preterm: a large prospective multicentre cohort study

Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

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

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

FTO genotype is associated with phenotypic variability of body mass index

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Genetic Diversity Turns a New PAGE in Our Understanding of Complex Traits

Genetic analyses of diverse populations improves discovery for complex traits

Genetic evidence of assortative mating in humans

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

Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities

Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Hundreds of variants clustered in genomic loci and biological pathways affect human height

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

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

Less invasive surfactant administration is associated with improved pulmonary outcomes in spontaneously breathing preterm infants

Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

Mitochondrial mutation m.1555A>G as a risk factor for failed newborn hearing screening in a large cohort of preterm infants

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

RANTES/CCL5 and risk for coronary events: results from the MONICA/KORA Augsburg case-cohort, Athero-Express and CARDIoGRAM studies

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

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

The association of mannose-binding lectin 2 polymorphisms with outcome in very low birth weight infants

The power of genetic diversity in genome-wide association studies of lipids

The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population

Whole genome sequence association with E-selectin levels reveals Loss-of-function variant in African Americans