Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation inCOL5A1

(2015) Glen R Monroe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of theCOL3A1gene

(2015) Natasha S. Stembridge et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve

(2014) Elizabeth M Bonachea et al.   BMC Medical Genomics

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

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

Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

(2014) Melanie G. Pepin et al.   GENETICS IN MEDICINE

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

(2013) Anthony M. Vandersteen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

(2013) Jana Vandrovcova et al.   GENETICS IN MEDICINE

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

(2012) Jan Halbritter et al.   JOURNAL OF MEDICAL 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

Structural basis of fibrillar collagen trimerization and related genetic disorders

(2012) Jean-Marie Bourhis et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers–Danlos syndrome

(2012) Kim-Thanh Ong et al.   VIRCHOWS ARCHIV

A novel deletion inZBTB24in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

(2011) E Chouery et al.   CLINICAL GENETICS

Germline TGF-β receptor mutations and skeletal fragility: A report on two patients with Loeys-Dietz syndrome

(2010) Salman Kirmani et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link

(2010) Michael J. Pickup et al.   Forensic Science Medicine and Pathology

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

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS