Difficulties in diagnosing Marfan syndrome using current FBN1 databases

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome

(2014) Ren-Qiang Yang et al.   BMC GENETICS

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Activities at the Universal Protein Resource (UniProt)

(2013)   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

(2011) S Sheikhzadeh et al.   CLINICAL GENETICS

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities

(2011) DO Robinson et al.   CLINICAL GENETICS

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

(2011) C. J. Bell et al.   Science Translational Medicine

The revised Ghent nosology for the Marfan syndrome

(2010) B. L. Loeys et al.   JOURNAL OF MEDICAL GENETICS