Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

Genotype impacts survival in Marfan syndrome

(2016) Romy Franken et al.   EUROPEAN HEART JOURNAL

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome

(2016) Pauline Arnaud et al.   JOURNAL OF MEDICAL GENETICS

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

(2015) Mélodie Aubart et al.   HUMAN MOLECULAR GENETICS

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Variant Association Tools for Quality Control and Analysis of Large-Scale Sequence and Genotyping Array Data

(2014) Gao T. Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Architecture of SNP Effects on Complex Traits

(2014) Eric R. Gamazon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

2014 ESC Guidelines on the diagnosis and treatment of aortic diseases

(2014)   EUROPEAN HEART JOURNAL

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

Genome-wide efficient mixed-model analysis for association studies

(2012) Xiang Zhou et al.   NATURE GENETICS

Improved whole-chromosome phasing for disease and population genetic studies

(2012) Olivier Delaneau et al.   NATURE METHODS

Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools

(2011) F. A. San Lucas et al.   BIOINFORMATICS

Survivin expression induced by endothelin-1 promotes myofibroblast resistance to apoptosis

(2011) Jeffrey C. Horowitz et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies

(2009) Bryan N. Howie et al.   PLoS Genetics

Genetics of gene expression and its effect on disease

(2008) Valur Emilsson et al.   NATURE

Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations

(2008) L. Faivre et al.   PEDIATRICS