Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

Atenolol versus Losartan in Children and Young Adults with Marfan's Syndrome

(2014) Ronald V. Lacro et al.   NEW ENGLAND JOURNAL OF MEDICINE

VariantDB: a flexible annotation and filtering portal for next generation sequencing data

(2014) Geert Vandeweyer et al.   Genome Medicine

Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections

(2013) Dong-chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

(2013) Birgit Sikkema-Raddatz et al.   HUMAN MUTATION

A SNP profiling panel for sample tracking in whole-exome sequencing studies

(2013) Reuben J Pengelly et al.   Genome Medicine

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

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

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus

(2012) Magdalena Harakalova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

(2012) Mark E Lindsay et al.   NATURE GENETICS

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm

(2012) Alexander J Doyle et al.   NATURE GENETICS

CNV-WebStore: Online CNV Analysis, Storage and Interpretation

(2011) Geert Vandeweyer et al.   BMC BIOINFORMATICS

Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing

(2011) Haruya Sakai et al.   HUMAN GENETICS

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes

(2011) Machteld Baetens et al.   HUMAN MUTATION

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

(2011) Ingrid M B H van de Laar et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections

(2010) Li Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus

(2010) Ali R Keramati et al.   BMC Medical Genetics

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS

Thoracic Aortic Aneurysm

(2010) John A. Elefteriades et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Ascending Aortic Dilatation Associated With Bicuspid Aortic Valve

(2009) Thomas M. Tadros et al.   CIRCULATION

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations

(2009) V Tran-Fadulu et al.   JOURNAL OF MEDICAL GENETICS