Publications
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Filters: Keyword is Genetic Predisposition to Disease and Author is Boycott, Kym M [Clear All Filters]
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 ;185(1):119-133.
. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 ;102(5):985-994.
. The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 ;36(10):915-21.
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