TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry

(2016) Siddharth K. Prakash et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Aortic Dissection in Patients With Genetically Mediated Aneurysms

(2016) Jonathan W. Weinsaft et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The Need for Standardized Methods for Measuring the Aorta

(2016) Federico M. Asch et al.   JACC-Cardiovascular Imaging

Widespread DNA hypomethylation and differential gene expression in Turner syndrome

(2016) Christian Trolle et al.   Scientific Reports

Aortic dimensions in Turner syndrome

(2015) Emilio Quezada et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification

(2015) Wei Song et al.   GENETICS IN MEDICINE

Polymorphisms and Plasma Levels of Tissue Inhibitor of Metalloproteinase-3

(2015) Chun-Wen Su et al.   MEDICINE

Derivation of consensus inactivation status for X-linked genes from genome-wide studies

(2015) Bradley P. Balaton et al.   Biology of Sex Differences

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

(2015) Christopher C Chang et al.   GigaScience

A Novel NKX2.5 Loss-of-Function Mutation Associated With Congenital Bicuspid Aortic Valve

(2014) Xin-Kai Qu et al.   AMERICAN JOURNAL OF CARDIOLOGY

Variable escape from X-chromosome inactivation: Identifying factors that tip the scales towards expression

(2014) Samantha B. Peeters et al.   BIOESSAYS

GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve

(2014) LIN-MEI SHI et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Matrix metalloproteinase levels in chronic thoracic aortic dissection

(2014) Xiaoming Zhang et al.   JOURNAL OF SURGICAL RESEARCH

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

(2014) Daniel W. Bellott et al.   NATURE

Differential expression of MMP-2, MMP-9 and TIMP proteins in thoracic aortic aneurysm – comparison with and without bicuspid aortic valve: a meta-analysis

(2014) Simon W. Rabkin   Vasa-European Journal of Vascular Medicine

Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome

(2013) Siddharth Prakash et al.   GENETICS IN MEDICINE

Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome

(2013) Carolyn Bondy et al.   JOURNAL OF MEDICAL GENETICS

Genetic Polymorphisms at TIMP3 Are Associated with Survival of Adenocarcinoma of the Gastroesophageal Junction

(2013) Morteza Bashash et al.   PLoS One

A high-performance computing toolset for relatedness and principal component analysis of SNP data

(2012) X. Zheng et al.   BIOINFORMATICS

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bicuspid Aortic Valve and Thoracic Aortic Aneurysm

(2009) Michael Silberbach   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY