Lucilla Pizzo, PhD

Assistant Professor (Clinical), University of Utah School of Medicine

Education

• Doctorate Degree—Molecular Medicine, The Pennsylvania State University
• Fellowship—Laboratory Genetics and Genomics, University of Utah Health

Research Interests

• Genomic basis of phenotypic heterogeneity of recurrent copy-number variants
• Identification of structural variants using genomic technologies

Awards

• Fulbright Fellowship, 2013 variants
• William L. Roberts Memorial Fund, 2022

Recent Publications

• Pizzo L, Andersen EF, Best DH. Detection of germline structural variants using short-read whole-genome sequencing. Adv Mol Path. 2024. Published online Jul 2024.
• Smolen C, Jensen M, Dyer L, et al. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants. Am J Hum Genet. 2023;110(12):2015-2028.
• Pizzo L, Lasser M, Yusuff T, et al. Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis. PLoS Genet. 2021;17(4):e1009112.
• Jensen M, Tyryshkina A, Pizzo L, et al. Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12. 1 deletion. Genome Med. 2021;13(1):163.
• Yusuff T, Jensen M, Yennawar S, et al. Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development. PLoS Genet. 2020;16(6):e1008792.
• Pizzo L, et al. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genet Med. 2019 Apr;21(4):816-825.