Deep learning enables genetic analysis of the human thoracic aorta

Cantu syndrome: A longitudinal review of vascular findings in three individuals

(2020) Ashley Parrott et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2020) Konrad J. Karczewski et al.   NATURE

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

(2020) James P. Pirruccello et al.   Nature Communications

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

(2020) Sandy Elbitar et al.   GENETICS IN MEDICINE

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

Genetics of Thoracic and Abdominal Aortic Diseases

(2019) Amélie Pinard et al.   CIRCULATION RESEARCH

Heart Disease and Stroke Statistics—2019 Update: A Report From the American Heart Association

(2019) Emelia J. Benjamin et al.   CIRCULATION

Screening for Abdominal Aortic Aneurysm

(2019) et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mixed-model association for biobank-scale datasets

(2018) Po-Ru Loh et al.   NATURE GENETICS

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

(2018) Alexander Gusev et al.   NATURE GENETICS

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

(2018) Hilary K. Finucane et al.   NATURE GENETICS

Reduced Long‐Term Risk of Aortic Aneurysm and Aortic Dissection Among Individuals With Type 2 Diabetes Mellitus: A Nationwide Observational Study

(2018) Tarik Avdic et al.   Journal of the American Heart Association

Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure

(2018) Mary E. Haas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

(2018) Marjolijn Renard et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects

(2018) Allison A. Regier et al.   Nature Communications

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the KidneyNovelty and Significance

(2017) Louise V. Wain et al.   HYPERTENSION

The Regulations of Deubiquitinase USP15 and Its Pathophysiological Mechanisms in Diseases

(2017) Chon-Kit Chou et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function

(2017) Philipp S. Wild et al.   JOURNAL OF CLINICAL INVESTIGATION

Aetiology and management of hereditary aortopathy

(2017) Aline Verstraeten et al.   Nature Reviews Cardiology

Characteristics and Outcomes of Ascending Versus Descending Thoracic Aortic Aneurysms

(2016) Joshua S. Vapnik et al.   AMERICAN JOURNAL OF CARDIOLOGY

Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections

(2016) Dong-chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection

(2016) Timothy J. Bradley et al.   CANADIAN JOURNAL OF CARDIOLOGY

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

(2016) Zhihong Zhu et al.   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

The statistical properties of gene-set analysis

(2016) Christiaan A. de Leeuw et al.   NATURE REVIEWS GENETICS

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

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

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

Efficient Bayesian mixed-model analysis increases association power in large cohorts

(2015) Po-Ru Loh et al.   NATURE GENETICS

A gene-based association method for mapping traits using reference transcriptome data

(2015) Eric R Gamazon et al.   NATURE GENETICS

MAGMA: Generalized Gene-Set Analysis of GWAS Data

(2015) Christiaan A. de Leeuw et al.   PLoS Computational Biology

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

(2015) Cathie Sudlow et al.   PLOS MEDICINE

Second-generation PLINK: rising to the challenge of larger and richer datasets

(2015) Christopher C Chang et al.   GigaScience

Reference Values for Echocardiographic Assessment of the Diameter of the Aortic Root and Ascending Aorta Spanning All Age Categories

(2014) Laurence Campens et al.   AMERICAN JOURNAL OF CARDIOLOGY

SNPsnap: a Web-based tool for identification and annotation of matched SNPs

(2014) Tune H. Pers et al.   BIOINFORMATICS

Familial thoracic aortic aneurysms

(2014) Guillaume Jondeau et al.   CURRENT OPINION IN CARDIOLOGY

Protease inhibitor 15, a candidate gene for abdominal aortic internal elastic lamina ruptures in the rat

(2014) Samreen Falak et al.   PHYSIOLOGICAL GENOMICS

Distribution, Determinants, and Normal Reference Values of Thoracic and Abdominal Aortic Diameters by Computed Tomography (from the Framingham Heart Study)

(2013) Ian S. Rogers et al.   AMERICAN JOURNAL OF CARDIOLOGY

Determinants and normal values of ascending aortic diameter by age, gender, and race/ethnicity in the Multi-Ethnic Study of Atherosclerosis (MESA)

(2013) Evrim B. Turkbey et al.   JOURNAL OF MAGNETIC RESONANCE IMAGING

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

FTO genotype is associated with phenotypic variability of body mass index

(2012) Jian Yang et al.   NATURE

USP15 stabilizes TGF-β receptor I and promotes oncogenesis through the activation of TGF-β signaling in glioblastoma

(2012) Pieter J A Eichhorn et al.   NATURE MEDICINE

Diabetes and Reduced Risk for Thoracic Aortic Aneurysms and Dissections: A Nationwide Case‐Control Study

(2012) Siddharth K. Prakash et al.   Journal of the American Heart Association

Degrading Devices: Invadosomes in Proteolytic Cell Invasion

(2011) Stefan Linder et al.   Annual Review of Cell and Developmental Biology

A robust clustering algorithm for identifying problematic samples in genome-wide association studies

(2011) Céline Bellenguez et al.   BIOINFORMATICS

Molecular signatures database (MSigDB) 3.0

(2011) A. Liberzon et al.   BIOINFORMATICS

Lessons on the pathogenesis of aneurysm from heritable conditions

(2011) Mark E. Lindsay et al.   NATURE

WWP2 is an E3 ubiquitin ligase for PTEN

(2011) Subbareddy Maddika et al.   NATURE CELL BIOLOGY

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1

(2011) Scott A LeMaire et al.   NATURE GENETICS

Analysis of risk factors for abdominal aortic aneurysm in a cohort of more than 3 million individuals

(2010) K. Craig Kent et al.   JOURNAL OF VASCULAR SURGERY

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

(2010) Tanya M. Teslovich et al.   NATURE

Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits

(2010) Ayellet V. Segrè et al.   PLoS Genetics

Genetic Variants Associated With Cardiac Structure and Function

(2009) Ramachandran S. Vasan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

ADAMTSL-6 Is a Novel Extracellular Matrix Protein That Binds to Fibrillin-1 and Promotes Fibrillin-1 Fibril Formation

(2009) Ko Tsutsui et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ASB2 targets filamins A and B to proteasomal degradation

(2008) M. L. Heuze et al.   BLOOD