Publications
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Author Title [ Year] Filters: Keyword is Genome, Human and Author is Chong, Jessica X [Clear All Filters]
The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am J Hum Genet 100, 695-705 (2017).
Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet 94, 161-75 (2014).