Publications
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Filters: Keyword is Phenotype and Author is Chong, Jessica X [Clear All Filters]
Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 ;110(8):1229-1248.
. Centers for Mendelian Genomics: A decade of facilitating gene discovery. Genet Med. 2022 ;24(4):784-797.
. Variant-level matching for diagnosis and discovery: Challenges and opportunities. Hum Mutat. 2022 ;43(6):782-790.
. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 ;97(2):199-215.
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