Identification of novel splice mutation in SMAD3 in two Cypriot families with nonsyndromic thoracic aortic aneurysm. Two case reports

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

(2020) Bertrand Chesneau et al.   Molecular Genetics & Genomic Medicine

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

(2018) Dorien Schepers et al.   HUMAN MUTATION

Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report

(2018) Anna Keravnou et al.   BMC Medical Genetics

Aetiology and management of hereditary aortopathy

(2017) Aline Verstraeten et al.   Nature Reviews Cardiology

COFACTOR: improved protein function prediction by combining structure, sequence and protein–protein interaction information

(2017) Chengxin Zhang et al.   NUCLEIC ACIDS RESEARCH

Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing

(2016) Jeffrey A. Schubert et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

(2016) Matias Hannuksela et al.   BMC Medical Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A Case of Rheumatoid Arthritis Associated with SMAD3 Gene Mutation: A New Clinical Entity?

(2015) E. BERTHET et al.   JOURNAL OF RHEUMATOLOGY

I-TASSER server: new development for protein structure and function predictions

(2015) Jianyi Yang et al.   NUCLEIC ACIDS RESEARCH

Risk Profiles for Aortic Dissection and Ruptured or Surgically Treated Aneurysms: A Prospective Cohort Study

(2015) M. Landenhed et al.   Journal of the American Heart Association

Familial thoracic aortic aneurysms

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

Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

(2014) Mélodie Aubart et al.   PLoS One

Aortic Arch Dissection: A Controversy of Classification

(2014) Jason K. Lempel et al.   RADIOLOGY

Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections

(2013) Dianna M. Milewicz et al.   TRENDS IN CARDIOVASCULAR MEDICINE

An unanticipated copy number variant of chromosome 15 disruptingSMAD3reveals a three-generation family at serious risk for aortic dissection

(2012) Y Hilhorst-Hofstee et al.   CLINICAL GENETICS

Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants

(2012) Denise van der Linde et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms

(2011) Ellen S. Regalado et al.   CIRCULATION RESEARCH

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH