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

The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)

(2014) Jordan P. Lerner-Ellis et al.   MOLECULAR GENETICS AND METABOLISM

Thoracic Aortic Aneurysm in Infancy in Aneurysms-Osteoarthritis Syndrome Due to a NovelSMAD3Mutation: Further Delineation of the Phenotype

(2013) Anita Wischmeijer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

(2012) Whitney L Wooderchak-Donahue et al.   BMC Medical Genomics

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

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction

(2011) Sara Andrabi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

(2011) Melanie A. Jones et al.   GENETICS IN MEDICINE

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

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

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

(2011) Marjolijn Renard et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations

(2011) Bruno Drera et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

(2010) Dianna M. Milewicz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

The Pathogenesis of Aortopathy in Marfan Syndrome and Related Diseases

(2010) Jeffrey A. Jones et al.   Current Cardiology Reports

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Cellular and molecular mechanisms of thoracic aortic aneurysms

(2009) Ismail El-Hamamsy et al.   Nature Reviews Cardiology

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH