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publications [2026/07/09 01:27] – cassapublications [2026/07/09 01:29] (current) – cassa
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 ===== Selected Recent Publications and Preprints ===== ===== Selected Recent Publications and Preprints =====
  
-  - NERINE reveals rare variant associations in gene networks across multiple phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease. Nazeen S, Wang X, Morrow A, Strom R, Ethier E, Ritter D, Henderson A, Afroz J, **Cassa C**, Stitziel NO, Gupta RM, Luk K, Studer L, Khurana V, Sunyaev SR. //Cell Genomics//; doi: 10.1101/2025.01.07.631688 +  - NERINE reveals rare variant associations in gene networks across multiple phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease. Nazeen S, Wang X, Morrow A, Strom R, Ethier E, Ritter D, Henderson A, Afroz J, **Cassa C**, Stitziel NO, Gupta RM, Luk K, Studer L, Khurana V, Sunyaev SR. //Cell Genomics//; [[https://www.cell.com/cell-genomics/fulltext/S2666-979X(26)00146-1|https://www.cell.com/cell-genomics/fulltext/S2666-979X(26)00146-1]] 
-  - LDLR variant classification through activity-normalized prime editing screening. Zhou PJ, Velimirovic M, Yu T, Gligorovski V, Mathis N, Zhao J, Phan QV, Vogd F, Ryu J, Pan Q, Tyagi A, Ascher DB, Schwank G, Pinello L, **Cassa CA***, Sherwood RI*. //Accepted, Circulation//; doi: https://doi.org/10.64898/2025.12.16.694467 +  - LDLR variant classification through activity-normalized prime editing screening. Zhou PJ, Velimirovic M, Yu T, Gligorovski V, Mathis N, Zhao J, Phan QV, Vogd F, Ryu J, Pan Q, Tyagi A, Ascher DB, Schwank G, Pinello L, **Cassa CA***, Sherwood RI*. //Accepted, Circulation//; https://www.biorxiv.org/content/10.64898/2025.12.16.694467v1.full.pdf
   - Language models reveal evidence gaps in variants of uncertain significance. Li W, Bhat V, Yu T, Lebo M, Zitnik M, **Cassa CA**. medRxiv 2026.02.28.26347206; doi: https://doi.org/10.64898/2026.02.28.26347206   - Language models reveal evidence gaps in variants of uncertain significance. Li W, Bhat V, Yu T, Lebo M, Zitnik M, **Cassa CA**. medRxiv 2026.02.28.26347206; doi: https://doi.org/10.64898/2026.02.28.26347206
   - From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review. Li W, Li X, Lavallee E, Saparov A, Zitnik M, **Cassa C**. //Genome Med// 2026. https://doi.org/10.1186/s13073-026-01661-7   - From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review. Li W, Li X, Lavallee E, Saparov A, Zitnik M, **Cassa C**. //Genome Med// 2026. https://doi.org/10.1186/s13073-026-01661-7