Jessica Chong

1 month ago | jmedicalcasereports.biomedcentral.com | Jessica Chong |Melissa Fleming |Kara Simpson |Elizabeth Sherwin |Diana X. Bharucha-Goebel |Christopher Spurney | +1 more

ReferencesMatthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, et al. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment. Brain. 2010;133(Pt 1):9–22. Article  PubMed  CAS  Google Scholar  Portaro S, Rodolico C, Sinicropi S, Musumeci O, Valenzise M, Toscano A. Flecainide-responsive myotonia permanens with SNEL onset: a new case and literature review. Pediatrics. 2016;137(4): e20153289.

Feb 9, 2024 | biorxiv.org | Jessica Chong |Seth Berger |Samantha Baxter |Erica Smith

AbstractSince the first novel gene discovery for a Mendelian condition was made via exome sequencing (ES), the rapid increase in the number of genes known to underlie Mendelian conditions1 coupled with the adoption of exome (and more recently, genome) sequencing by diagnostic testing labs has changed the landscape of genomic testing for rare disease. Specifically, many individuals suspected to have a Mendelian condition are now routinely offered clinical ES.