Publications
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Filters: Keyword is Phenotype and Author is Leal, Suzanne M [Clear All Filters]
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med. 2021 ;23(11):2122-2137.
. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 ;97(2):199-215.
. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011 ;7(6):e1002118.
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