Two novelEIF2S3mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

(2015) Tojo Nakayama et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Missense Mutation inPPP1R15BCauses a Syndrome Including Diabetes, Short Stature, and Microcephaly

(2015) Baroj Abdulkarim et al.   DIABETES

Next-generation sequencing in X-linked intellectual disability

(2015) Andreas Tzschach et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene,PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability

(2015) Kristin D. Kernohan et al.   HUMAN MOLECULAR GENETICS

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

(2015) H Hu et al.   MOLECULAR PSYCHIATRY

Phenotypic and molecular insights into CASK-related disorders in males

(2015) Ute Moog et al.   Orphanet Journal of Rare Diseases

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution

(2013) Nir Oksenberg et al.   PLoS Genetics

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

(2012) Guntram Borck et al.   MOLECULAR CELL

Phosphorylation of Human Eukaryotic Initiation Factor 2γ: Novel Site Identification and Targeted PKC Involvement

(2011) Armann Andaya et al.   JOURNAL OF PROTEOME RESEARCH

Las1L Is a Nucleolar Protein Required for Cell Proliferation and Ribosome Biogenesis

(2010) C. D. Castle et al.   MOLECULAR AND CELLULAR BIOLOGY

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS