Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

(2017) Sophie Nambot et al.   GENETICS IN MEDICINE

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

(2017) Juliette Piard et al.   HUMAN MOLECULAR GENETICS

Hypersocial behavior and biological redundancy in mice with reduced expression of PSD95 or PSD93

(2017) Daniela Winkler et al.   BEHAVIOURAL BRAIN RESEARCH

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Mechanism and regulation of the nonsense-mediated decay pathway

(2016) Nele Hug et al.   NUCLEIC ACIDS RESEARCH

Novel genetic causes for cerebral visual impairment

(2015) Daniëlle GM Bosch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loeys–Dietz syndrome: a primer for diagnosis and management

(2014) Gretchen MacCarrick et al.   GENETICS IN MEDICINE

Motor Impairments, Striatal Degeneration, and Altered Dopamine-Glutamate Interplay in Mice Lacking PSD-95

(2014) Jingping Zhang et al.   JOURNAL OF NEUROGENETICS

PSD95 Suppresses Dendritic Arbor Development in Mature Hippocampal Neurons by Occluding the Clustering of NR2B-NMDA Receptors

(2014) Fernando J. Bustos et al.   PLoS One

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

(2013) P Callier et al.   CLINICAL GENETICS

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

(2012) Virginie Carmignac et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

(2012) Susan Zeesman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Synaptopathies: diseases of the synaptome

(2012) Seth GN Grant   CURRENT OPINION IN NEUROBIOLOGY

Association of MouseDlg4(PSD-95) Gene Deletion and HumanDLG4Gene Variation With Phenotypes Relevant to Autism Spectrum Disorders and Williams' Syndrome

(2010) Michael Feyder et al.   AMERICAN JOURNAL OF PSYCHIATRY

The revised Ghent nosology for the Marfan syndrome

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

A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome

(2009) L.E. Becerra-Solano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Preso, A Novel PSD-95-Interacting FERM and PDZ Domain Protein That Regulates Dendritic Spine Morphogenesis

(2009) H. W. Lee et al.   JOURNAL OF NEUROSCIENCE

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

(2008) Chantal Stheneur et al.   HUMAN MUTATION