… Funding: This project was supported by funding from the Broad Institute’s BroadIgnite
and Broadnext10 programs. BBC is supported by the NIH GM096911 training grant. TT is …

… b Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead,
University of Sydney, Sydney, New South Wales, Australia … Sandaradura S, North K …

… The images or other third party material in this article are included in the article’s Creative
Commons license, unless indicated otherwise in the credit line; if the material is not included …

Capillary malformation–arteriovenous malformation ( CM – AVM ) is an autosomal‐dominant
disorder, caused by heterozygous RASA 1 mutations, and manifesting multifocal CM s and …

Critically ill infants and children with rare diseases need equitable access to rapid and
accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics …

Importance Widespread adoption of rapid genomic testing in pediatric critical care requires
robust clinical and laboratory pathways that provide equitable and consistent service across …

Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction
and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic …

Nemaline myopathy (NM) is a rare congenital muscle disorder primarily affecting skeletal
muscles that results in neonatal death in severe cases as a result of associated respiratory …

Purpose Genetic variants causing aberrant premessenger RNA splicing are increasingly
being recognized as causal variants in genetic disorders. In this study, we devise standardized …

Objective Comprehensive clinical characterization of congenital titinopathy to facilitate
diagnosis and management of this important emerging disorder. Methods Using massively …