List of works - Mark J Rieder

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

scientific article

A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk

scientific article

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published on 28 November 2012

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

scientific article

Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations

scientific article

Comparable specimen collection from both ends of at-home mid-turbinate swabs

scientific article published on 08 December 2020

Cryptic transmission of SARS-CoV-2 in Washington State

scientific article published on 06 April 2020

Cryptic transmission of SARS-CoV-2 in Washington state

scientific article published on 10 September 2020

Early Detection of Covid-19 through a Citywide Pandemic Surveillance Platform

scientific article published on 01 May 2020

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

scientific article published in Nature

Erratum: Corrigendum: Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

scholarly article published in Nature Genetics

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scholarly article by Brian J O'Roak et al published April 2012 in Nature Genetics

Evidence for Limited Early Spread of COVID-19 Within the United States, January-February 2020

scientific article published on 05 June 2020

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

scientific article

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

scientific article

Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers

scientific article

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scientific article (publication date: June 2011)

Linkage and association of phospholipid transfer protein activity to LASS4

scientific 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

Preliminary support for a “dry swab, extraction free” protocol for SARS-CoV-2 testing via RT-qPCR

scientific article published on 24 April 2020

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

scientific article published on August 2013

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

scientific article

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

scientific article (publication date: 4 April 2012)

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

scientific article

Targeted enrichment of specific regions in the human genome by array hybridization

scientific article

The Seattle Flu Study: a multi-arm community-based prospective study protocol for assessing influenza prevalence, transmission, and genomic epidemiology

scientific article published on 07 March 2020

The Seattle Flu Study: a multiarm community-based prospective study protocol for assessing influenza prevalence, transmission and genomic epidemiology

scientific article published on 07 October 2020

Viral genomes reveal patterns of the SARS-CoV-2 outbreak in Washington State

scientific article published on 30 September 2020

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

scientific article

List of works by Mark J Rieder

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

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

Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations

Comparable specimen collection from both ends of at-home mid-turbinate swabs

Cryptic transmission of SARS-CoV-2 in Washington State

Cryptic transmission of SARS-CoV-2 in Washington state

Early Detection of Covid-19 through a Citywide Pandemic Surveillance Platform

Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

Erratum: Corrigendum: Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Evidence for Limited Early Spread of COVID-19 Within the United States, January-February 2020

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Linkage and association of phospholipid transfer protein activity to LASS4

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

Preliminary support for a “dry swab, extraction free” protocol for SARS-CoV-2 testing via RT-qPCR

Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

Targeted enrichment of specific regions in the human genome by array hybridization

The Seattle Flu Study: a multi-arm community-based prospective study protocol for assessing influenza prevalence, transmission, and genomic epidemiology

The Seattle Flu Study: a multiarm community-based prospective study protocol for assessing influenza prevalence, transmission and genomic epidemiology

Viral genomes reveal patterns of the SARS-CoV-2 outbreak in Washington State

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