Lucilla M. Pizzo

Lucilla M. Pizzo, MS, PhD

Languages spoken: English

Academic Information

Departments Primary - Pathology

Education History

Fellowship University of Utah Spencer Fox Eccles School of Medicine, ARUP Laboratories
 Fellow
Institut Pasteur Montevideo
 Postdoctoral Fellow
Doctoral Training Pennsylvania State University
 PhD
Institut Pasteur Montevideo, Universidad de la Republica
 MS
Undergraduate Universidad de la Republica
 BS

Selected Publications

Journal Article

  1. Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Luana Mandar GM, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bnteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S (2023). Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants. Am J Hum Genet, 110(12), 2015-2028. (Read full article)
  2. Jensen M, Tyryshkina A, Pizzo L, Smolen C, Das M, Huber E, Krishnan A, Girirajan S (2021). Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion. Genome Med, 13(1), 163. (Read full article)
  3. Pizzo L, Lasser M, Yusuff T, Jensen M, Ingraham P, Huber E, Singh MD, Monahan C, Iyer J, Desai I, Karthikeyan S, Gould DJ, Yennawar S, Weiner AT, Pounraja VK, Krishnan A, Rolls MM, Lowery LA, Girirajan S (2021). Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis. PLoS Genet, 17(4), e1009112. (Read full article)
  4. Yusuff T, Jensen M, Yennawar S, Pizzo L, Karthikeyan S, Gould DJ, Sarker A, Gedvilaite E, Matsui Y, Iyer J, Lai ZC, Girirajan S (2020). Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development. PLoS Genet, 16(6), e1008792. (Read full article)
  5. Singh MD, Jensen M, Lasser M, Huber E, Yusuff T, Pizzo L, Lifschutz B, Desai I, Kubina A, Yennawar S, Kim S, Iyer J, Rincon-Limas DE, Lowery LA, Girirajan S (2020). NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models. PLoS Genet, 16(2), e1008590. (Read full article)
  6. Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curr A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandar L, Vincent M, Nizon M, Mercier S, Bnteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S (2018). Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genet Med, 21(4), 816-825. (Read full article)
  7. Iyer J, Singh MD, Jensen M, Patel P, Pizzo L, Huber E, Koerselman H, Weiner AT, Lepanto P, Vadodaria K, Kubina A, Wang Q, Talbert A, Yennawar S, Badano J, Manak JR, Rolls MM, Krishnan A, Girirajan S (2018). Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster. Nat Commun, 9(1), 2548. (Read full article)
  8. Isles AR, Ingason A, Lowther C, Walters J, Gawlick M, Stber G, Rees E, Martin J, Little RB, Potter H, Georgieva L, Pizzo L, Ozaki N, Aleksic B, Kushima I, Ikeda M, Iwata N, Levinson DF, Gejman PV, Shi J, Sanders AR, Duan J, Willis J, Sisodiya S, Costain G, Werge TM, Degenhardt F, Giegling I, Rujescu D, Hreidarsson SJ, Saemundsen E, Ahn JW, Ogilvie C, Girirajan SD, Stefansson H, Stefansson K, ODonovan MC, Owen MJ, Bassett A, Kirov G (2016). Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders. PLoS Genet, 12(5), e1005993. (Read full article)
  9. Iyer J, Wang Q, Le T, Pizzo L, Grnke S, Ambegaokar SS, Imai Y, Srivastava A, Trois BL, Mardon G, Artero R, Jackson GR, Isaacs AM, Partridge L, Lu B, Kumar JP, Girirajan S (2016). Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster. G3 (Bethesda), 6(5), 1427-37. (Read full article)
  10. Pizzo L, Iriarte A, Alvarez-Valin F, Marn M (2015). Conservation of CFTR codon frequency through primates suggests synonymous mutations could have a functional effect. Mutat Res, 775, 19-25. (Read full article)
  11. Pizzo L, Fariello MI, Lepanto P, Aguilar PS, Kierbel A (2014). An image analysis method to quantify CFTR subcellular localization. Mol Cell Probes, 28(4), 175-80. (Read full article)

Review

  1. Girirajan S, Pizzo L, Moeschler J, Rosenfeld J (1993). 16p12.2 Recurrent Deletion. [Review]. GeneReviews. (Read full article)
  2. Pizzo L, Andrieux J, Amor DJ, Girirajan S (2016). Clinical utility gene card for: 16p12.2 microdeletion. [Review]. Eur J Hum Genet, 25(2). (Read full article)