Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

(2009) A. J. de Smith et al.   HUMAN MOLECULAR GENETICS

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

(2008) Gregor D. Gilfillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

(2008) Cyril Gitiaux et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprintedDLK1/GTL2gene cluster

(2008) Karin Buiting et al.   HUMAN MUTATION

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS