Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice

(2015) M.T. Nguyen et al.   CLINICAL GENETICS

Mutations inTAX1BP3Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia

(2015) Eyal Reinstein et al.   HUMAN MUTATION

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

(2015) Dennis Mircsof et al.   NATURE NEUROSCIENCE

Inherited Cardiomyopathies

(2014) Jeffrey A. Towbin   CIRCULATION JOURNAL

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

(2013) S. A. Mullen et al.   NEUROLOGY

Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy

(2012) Thomas Meyer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation

(2008) A. Battaglia et al.   PEDIATRICS