Christopher A. Walsh

TL;DR: Agenesis of the corpus callosum with interhemispheric cyst appears to consist of a heterogeneous group of disorders that have in common callosal agenesis and extraparenchymal cysts, both of which are among the commonest CNS malformations.

TL;DR: This study provides a molecular confirmation of the BFPP phenotype and provides the wherewithal for diagnostic screening.

TL;DR: The results are based on a relatively small sample, one with greater homogeneity than the entire population, and imply that analysis of subphenotypes is not a productive path forward for discovering genetic risk variants in ASD.

TL;DR: The first systematic deep sequencing study of 55 postmortem ASD brains for SNVs in 78 known ASD candidate genes shows evidence that somatic mutations occur in ASD cases, and supporting a model in which a combination of germline and/or somatic mutation may contribute to ASD risk on a case-by-case basis.

TL;DR: Evidence is provided that mutations in a gene coding for a major basement membrane protein, collagen IV alpha 1 (COL4A1), are a novel cause of muscle-eye-brain disease and Walker Warburg Syndrome and Expression and posttranslational modification of dystroglycan is unaltered in Col4a1 mutant mice indicating that COL4A 1 mutations represent a distinct pathogenic mechanism underlying MEB/WWS.