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| publications [2026/09/23 01:07] – cassa | publications [2026/09/23 01:07] (current) – cassa |
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| - 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 Genom.// 2026 Jul 8;6(7):101284. doi: 10.1016/j.xgen.2026.101284. Epub 2026 Jun 22. [[https://www.cell.com/cell-genomics/fulltext/S2666-979X(26)00146-1|https://www.cell.com/cell-genomics/fulltext/S2666-979X(26)00146-1]]. | - 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 Genom.// 2026 Jul 8;6(7):101284. doi: 10.1016/j.xgen.2026.101284. Epub 2026 Jun 22. [[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*. Circulation. 2026 Sep 1:10.1161/CIRCULATIONAHA.125.078585. doi: 10.1161/CIRCULATIONAHA.125.078585. PMID: 42677454 [[https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.125.078585?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed]] | - 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*. Circulation. 2026 Sep 1:10.1161/CIRCULATIONAHA.125.078585. doi: 10.1161/CIRCULATIONAHA.125.078585. PMID: 42677454 [[https://www.ahajournals.org/doi/10.1161/CIRCULATIONAHA.125.078585]] |
| - 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// Genome Med 18, 103 (2026). doi:10.1186/s13073-026-01661-7 [[https://link.springer.com/article/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// Genome Med 18, 103 (2026). doi:10.1186/s13073-026-01661-7 [[https://link.springer.com/article/10.1186/s13073-026-01661-7]] |