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<i>ZBTB33</i> is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing

artículo científico publicado en 2021

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

scientific article published on 13 April 2020

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy

scientific article published on 07 May 2020

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

artículo científico publicado en 2018

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

artículo científico publicado en 2013

Association of APOL1 Risk Alleles With Cardiovascular Disease in Blacks in the Million Veteran Program

artículo científico publicado en 2019

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

artículo científico publicado en 2012

Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter

artículo científico publicado en 2017

Clonal Hematopoiesis of Indeterminate Potential Reshapes Age-Related CVD: JACC Review Topic of the Week

scientific article published on 01 July 2019

DNA Sequence Variation in Encoding the Activin-Receptor Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes

Deep learning enables genetic analysis of the human thoracic aorta

artículo científico publicado en 2021

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

artículo científico publicado en 2016

Genetic Interleukin 6 Signaling Deficiency Attenuates Cardiovascular Risk in Clonal Hematopoiesis

scientific article published on 11 November 2019

Increased CHIP Prevalence Amongst People Living with HIV

artículo científico publicado en 2020

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

artículo científico publicado en 2013

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

artículo científico publicado en 2014

Inherited causes of clonal haematopoiesis in 97,691 whole genomes

artículo científico publicado en 2020

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

artículo científico publicado en 2020

Mechanically robust and bioadhesive collagen and photocrosslinkable hyaluronic acid semi-interpenetrating networks

artículo científico publicado en 2009

Nanoscale tissue engineering: spatial control over cell-materials interactions

artículo científico publicado en 2011

Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood

artículo científico publicado en 2019

Proteomic profiling platforms head to head: Leveraging genetics and clinical traits to compare aptamer- and antibody-based methods

artículo científico publicado en 2022

Single-Cell Resolution of Temporal Gene Expression during Heart Development

artículo científico publicado en 2016

Titin Truncating Variants in Adults Without Known Congestive Heart Failure

scientific article published on 01 March 2020

UBD modifies APOL1-induced kidney disease risk.

artículo científico publicado en 2018

UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration

artículo científico publicado en 2014