Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy

Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis

(2017) Betti Giusti et al.   Frontiers in Physiology

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

(2017) Elisabeth Gillis et al.   Frontiers in Physiology

Genetic Testing in Thoracic Aortic Disease—When, Why, and How?

(2016) Sarah C. Bowdin et al.   CANADIAN JOURNAL OF CARDIOLOGY

A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease

(2016) Gregor Andelfinger et al.   CANADIAN JOURNAL OF CARDIOLOGY

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

(2016) Andrew T Timberlake et al.   eLife

The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

(2015) Devin Cox et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Smad6 is essential to limit BMP signaling during cartilage development

(2011) Kristine D Estrada et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Epidemiology of thoracic aortic dissection

(2010) Scott A. LeMaire et al.   Nature Reviews Cardiology

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

(2009) Marianne Doornbos et al.   European Journal of Medical Genetics