Copy number analysis ofNIPBLin a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

(2013) Cristina Gervasini et al.   BMC Medical Genetics

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype

(2013) Cristina Gervasini et al.   European Journal of Medical Genetics

High rate of mosaicism in individuals with Cornelia de Lange syndrome

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

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

(2012) Myriam Srour et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RAD21 Mutations Cause a Human Cohesinopathy

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

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

(2012) Silvia Russo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

5p13 microduplication syndrome: A new case and better clinical definition of the syndrome

(2012) Francesca Novara et al.   European Journal of Medical Genetics

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

(2012) Davut Pehlivan et al.   GENETICS IN MEDICINE

Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders

(2012) Swaroop Aradhya et al.   GENETICS IN MEDICINE

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