Education History
| Undergraduate |
Universidad de la Republica |
BS |
|---|---|---|
| Graduate Training |
Institut Pasteur Montevideo, Universidad de la Republica |
MS |
| Doctoral Training |
Pennsylvania State University |
PhD |
| Postdoctoral Fellowship |
Institut Pasteur Montevideo |
Postdoctoral Fellow |
| Fellowship |
University of Utah Spencer Fox Eccles School of Medicine, ARUP Laboratories |
Fellow |
Selected Publications
Journal Article
- 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 Mandarà GM, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau 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.
- 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.
- 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.
- 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.
- 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, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau 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 (2019). Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. Genet Med, 21(4), 816-825.
- 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.
- Isles AR, Ingason A, Lowther C, Walters J, Gawlick M, Stöber 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, O'Donovan 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.
- Iyer J, Wang Q, Le T, Pizzo L, Grönke S, Ambegaokar SS, Imai Y, Srivastava A, Troisí 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.
- Pizzo L, Iriarte A, Alvarez-Valin F, Marín M (2015). Conservation of CFTR codon frequency through primates suggests synonymous mutations could have a functional effect. Mutat Res, 775, 19-25.
- 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.
- 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 (2021). Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis. PLoS genetics, 17(4), e1009112.
- Lewis RG, O'Shea JM, Pizzo L, Wen T, Fulmer ML, Zhao J, Verheijen J, Zhang C, Velinder M, Nicholas TJ, Boyden SE, Ward A, Baldwin EE, Andrews A, Ruiz JH, Marchetti M, Viskochil D, Carey JC, Bleyl SB, Butterfield RJ, Taliercio V, Botto LD, Mao R, Bayrak-Toydemir P, Undiagnosed Diseases Networ (2025). RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases. BMC medical genomics, 18(1), 182.
- Malone Jenkins S, Palmquist RN, Moore B, Boyden SE, Nicholas TJ, Bayrak-Toydemir P, Mao R, Farrell JAR, Holt CH, Rynearson SG, Solorzano CM, Ward A, Best DH, Al-Sweel N, Bentley DL, Brunelli L, Chow CY, Close DW, Cormier MJ, Deshotel MJ, Durtschi J, Eide EJ, Floyd L, Fredrickson EK, Fulmer ML, Hernandez EJ, Kapron AL, Karren MA, Lewis RG, Miller CE, Murtaugh LC, Nicholson KE, Noble K, O'Fallon BD, O'Shea JM, Pattison DC, Pedersen BS, Petersen BJ, Peterson BD, Pizzo L, Reynolds HM, Rindler P, Torr CB, Wen T, Yost HJ, Zhao J, Yandell M, Marth GT, Quinlan AR, Carey JC, Shayota BJ, Tristani-Firouzi M, Bonkowsky J (2025). The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit. NPJ genomic medicine, 10(1), 26.
- Jensen M, Smolen C, Tyryshkina A, Pizzo L, Sun J, Noss S, Banerjee D, Oetjens M, Shimelis H, Taylor CM, Pounraja VK, Song H, Rohan L, Huber E, El Khattabi L, van de Laar I, Tadros R, Bezzina CR, van Slegtenhorst M, Kammeraad J, Prontera P, Caberg JH, Fraser H, Banka S, Van Dijck A, Schwartz C, Voorhoeve E, Callier P, Mosca-Boidron AL, Marle N, Lefebvre M, Pope K, Snell P, Boys A, Lockhart PJ, Ashfaq M, McCready E, Nowacyzk M, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Bruccheri MG, Mandarà GML, Mari F, Privitera F, Longo I, Curró A, Renieri A, Keren B, Charles P, Cuinat S, Nizon M, Pichon O, Bénéteau C, Stoeva R, Martin-Coignard D, Blesson S, Le Caignec C, Mercier S, Vincent M, Martin CL, Mannik K, Reymond A, Faivre L, Sistermans E, Kooy RF, Amor DJ, Romano C, Andrieux J, Girirajan (2025). Genetic modifiers and ascertainment drive variable expressivity of complex disorders. Cell,
Review
- Pizzo L, Andrieux J, Amor DJ, Girirajan (2017). Clinical utility gene card for: 16p12.2 microdeletion. European journal of human genetics, 25(2),
- Girirajan S, Pizzo L, Moeschler J, Rosenfeld (2018). 16p12.2 Recurrent Deletion. GeneReviews,
- Pizzo L, Rudd M (2025). Structural Variation Interpretation in the Genome Sequencing Era: Lessons from Cytogenetics. Clinical chemistry, 71(1), 119-128.