Wendy K. Chung

TL;DR: The results indicate that gene dosage impacts factors other than white matter microstructure, which modulate conduction velocity, which causes delays in auditory evoked cortical response.

TL;DR: The findings suggest the clinical phenotypic heterogeneity in KAND likely reflects and parallels diverse molecular phenotypes and a new way to describe KAND subtypes to better capture the breadth of disease severity is proposed.

TL;DR: It is demonstrated that common outcomes for genomic medicine interventions can be identified and these publicly available to enhance dissemination and assist in making precision public health a reality.

TL;DR: This is the first prenatally diagnosed case of X-LAG, and expression of stem cell markers and several cell lineage-specific transcription factors suggests that these tumors are multipotential.

TL;DR: A review of the current understanding of the genetic and developmental basis of trachea-esophageal defects can be found in this paper, where the authors suggest future opportunities for integrating developmental mechanisms elucidated from animals and organoids with human genetics and clinical data to gain insight into the genotype-phenotype basis of these heterogeneous birth defects.