Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

(2015) Whitney Wooderchak-Donahue et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting

(2015) Bulat A. Ziganshin et al.   ANNALS OF THORACIC SURGERY

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

(2015) Dorien Proost et al.   HUMAN MUTATION

Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

(2014) Rafał Płoski et al.   CIRCULATION RESEARCH

Transforming Growth Factor-  and Inflammation in Vascular (Type IV) Ehlers-Danlos Syndrome

(2014) R. Morissette et al.   Circulation-Cardiovascular Genetics

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

(2014) Dorien Schepers et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: Role of dural ectasia for the diagnosis

(2013) Monica Attanasio et al.   European Journal of Medical Genetics

Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome

(2013) Jan J.J. Aalberts et al.   GENE

TGF  Receptor Mutations Impose a Strong Predisposition for Human Allergic Disease

(2013) P. A. Frischmeyer-Guerrerio et al.   Science Translational Medicine

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

Amplification of GC-rich DNA for High-Throughput Family-Based Genetic Studies

(2012) Sadaf Naz et al.   MOLECULAR BIOTECHNOLOGY

Evaluating Japanese Patients With the Marfan Syndrome Using High-Throughput Microarray-Based Mutational Analysis of Fibrillin-1 Gene

(2011) Naomi Ogawa et al.   AMERICAN JOURNAL OF CARDIOLOGY

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities

(2011) DO Robinson et al.   CLINICAL GENETICS

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

(2011) Mine Arslan-Kirchner et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)

(2011) E. Disabella et al.   HEART

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

(2011) Ingrid M B H van de Laar et al.   JOURNAL OF MEDICAL GENETICS

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

Recurrent and founder mutations in the Netherlands

(2011) J. J. J. Aalberts et al.   Netherlands Heart Journal

Genetic Testing in Aortic Aneurysm Disease: PRO

(2010) Dianna M. Milewicz et al.   CARDIOLOGY CLINICS

2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease

(2010) et al.   CIRCULATION

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

Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease

(2009) Dong-Chuan Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novelFBN1mutations

(2009) B Söylen et al.   CLINICAL GENETICS

Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation

(2009) E-H Yoo et al.   CLINICAL GENETICS

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

(2009) Chantal Stheneur et al.   EUROPEAN JOURNAL OF HUMAN GENETICS