Jessica Chong on Muck Rack

Jessica Chong

Verified
Seattle
As seen in: Journal of Medical Case Reports, The American Journal of Human Genetics, World Trademark Review
@jxchong@genomic.social,bsky.social. Assoc Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics
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Articles

GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders

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By Lauren Rekerle, Daniel Danis, Filip Rehburg, Andrés Caballero-Oteyza, Pilar Cacheiro, Leonardo Chimirri, Jessica Chong Verified, Evan Connelly, Alexander J.M. Dingemans, Michael H. Duyzend, Tomas Freiberger, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Michael Love, Monica Munoz-Torres, Justin Reese, Catharina Schuetz, Damian Smedley, Timmy Strauss, David Zocche, Sylvia Thun, Christopher Mungall, Melissa Haendel, Peter Robinson Verified, Adam S.L. Graefe, Viktor Bily, Petra Gehle, Markus S. Ladewig, Allison J. Marcello, Alexander Mordhorst, Ondrej Vladyka
| The American Journal of Human Genetics Verified
Keywords genotype-phenotype correlation Global Alliance for Genomics and Health Human Phenotype Ontology Mendelian disease Introduction There are a huge number of clinical manifestations of human disease, and even individuals with the same clinical diagnosis may present with different combinations of phenotypic abnormalities, ages of onset of these abnormalities, and degrees of clinical severity.
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Modernising common law: presence in foreign country through online commercial activities sufficient to establish jurisdiction

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By Teo Bong Kwang, Jessica Chong Verified
| World Trademark Review Verified
Shutterstock/sasirin pamai Malaysia Legal updates: case law analysis and intelligence
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High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report - Journal of Medical Case Reports

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By Jessica Chong Verified, Melissa Fleming, Kara Simpson, Elizabeth Sherwin, Diana X. Bharucha-Goebel, Christopher Spurney, Vanessa Ogueri
| Journal of Medical Case Reports Verified
References Matthews 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.
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