Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

Somatic mosaicism in a Cornelia de Lange syndrome patient withNIPBLmutation identified by different next generation sequencing approaches

(2014) C. Baquero-Montoya et al.   CLINICAL GENETICS

High rate of mosaicism in individuals with Cornelia de Lange syndrome

(2013) Sylvia A Huisman et al.   JOURNAL OF MEDICAL GENETICS

RAD21 Mutations Cause a Human Cohesinopathy

(2012) Matthew A. Deardorff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

(2012) Matthew A. Deardorff et al.   NATURE

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

(2010) P Castronovo et al.   CLINICAL GENETICS

Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome

(2009) Angelo Selicorni et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A