Ludmila Francescatto

TL;DR: It is indicated that CHD8 disruptions define a distinct ASD subtype and reveal unexpected comorbidities between brain development and enteric innervation.

TL;DR: Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, suggesting that mutation burden potentially contributes to phenotypic variability.

TL;DR: The genetic and functional data, corroborated by the existence of a Tenm4 knockout mouse displaying an ET phenotype, implicates TENM4 in ET and intimate that processes regulating myelination in the central nervous system and axon guidance might be significant contributors to the genetic burden of this disorder.

TL;DR: The data indicate that loss-of-function mutations affecting a specific region of COL6A3 cause recessive isolated dystonia with underlying neurodevelopmental deficits and highlight the brain extracellular matrix as a contributor to dySTONia pathogenesis.

TL;DR: A unique role or preferential sensitivity for CHD7 in the ontogeny of GnRH neurons is implicate, which reiterate the emerging genetic complexity of this family of IGD disorders and demonstrates how the coordinated use of well-phenotyped cohorts, families, and functional studies can inform genetic architecture and provide insights into the developmental biology of cellular systems.