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47 results

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Page 1
Systematic elucidation of genetic mechanisms underlying cholesterol uptake.
Hamilton MC, Fife JD, Akinci E, Yu T, Khowpinitchai B, Cha M, Barkal S, Thi TT, Yeo GHT, Ramos Barroso JP, Francoeur MJ, Velimirovic M, Gifford DK, Lettre G, Yu H, Cassa CA, Sherwood RI. Hamilton MC, et al. Among authors: cassa ca. Cell Genom. 2023 Apr 21;3(5):100304. doi: 10.1016/j.xgen.2023.100304. eCollection 2023 May 10. Cell Genom. 2023. PMID: 37228746 Free PMC article.
Systematic elucidation of genetic mechanisms underlying cholesterol uptake.
Hamilton MC, Fife JD, Akinci E, Yu T, Khowpinitchai B, Cha M, Barkal S, Thi TT, Yeo GHT, Ramos Barroso JP, Jake Francoeur M, Velimirovic M, Gifford DK, Lettre G, Yu H, Cassa CA, Sherwood RI. Hamilton MC, et al. Among authors: cassa ca. bioRxiv [Preprint]. 2023 Jan 10:2023.01.09.500804. doi: 10.1101/2023.01.09.500804. bioRxiv. 2023. Update in: Cell Genom. 2023 Apr 21;3(5):100304. doi: 10.1016/j.xgen.2023.100304. PMID: 36711952 Free PMC article. Updated. Preprint.
The missing link between genetic association and regulatory function.
Connally NJ, Nazeen S, Lee D, Shi H, Stamatoyannopoulos J, Chun S, Cotsapas C, Cassa CA, Sunyaev SR. Connally NJ, et al. Among authors: cassa ca. Elife. 2022 Dec 14;11:e74970. doi: 10.7554/eLife.74970. Elife. 2022. PMID: 36515579 Free PMC article.
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J, Barkal S, Yu T, Jankowiak M, Zhou Y, Francoeur M, Phan QV, Li Z, Tognon M, Brown L, Love MI, Lettre G, Ascher DB, Cassa CA, Sherwood RI, Pinello L. Ryu J, et al. Among authors: cassa ca. medRxiv [Preprint]. 2023 Sep 10:2023.09.08.23295253. doi: 10.1101/2023.09.08.23295253. medRxiv. 2023. Update in: Nat Genet. 2024 May;56(5):925-937. doi: 10.1038/s41588-024-01726-6. PMID: 37732177 Free PMC article. Updated. Preprint.
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Ouahed J, Kelsen JR, Spessott WA, Kooshesh K, Sanmillan ML, Dawany N, Sullivan KE, Hamilton KE, Slowik V, Nejentsev S, Neves JF, Flores H, Chung WK, Wilson A, Anyane-Yeboa K, Wou K, Jain P, Field M, Tollefson S, Dent MH, Li D, Naito T, McGovern DPB, Kwong AC, Taliaferro F, Ordovas-Montanes J, Horwitz BH, Kotlarz D, Klein C, Evans J, Dorsey J, Warner N, Elkadri A, Muise AM, Goldsmith J, Thompson B, Engelhardt KR, Cant AJ, Hambleton S, Barclay A, Toth-Petroczy A, Vuzman D, Carmichael N, Bodea C, Cassa CA, Devoto M, Maas RL, Behrens EM, Giraudo CG, Snapper SB. Ouahed J, et al. Among authors: cassa ca. J Crohns Colitis. 2021 Nov 8;15(11):1908-1919. doi: 10.1093/ecco-jcc/jjab077. J Crohns Colitis. 2021. PMID: 33891011 Free PMC article.
Predictable and precise template-free CRISPR editing of pathogenic variants.
Shen MW, Arbab M, Hsu JY, Worstell D, Culbertson SJ, Krabbe O, Cassa CA, Liu DR, Gifford DK, Sherwood RI. Shen MW, et al. Among authors: cassa ca. Nature. 2018 Nov;563(7733):646-651. doi: 10.1038/s41586-018-0686-x. Epub 2018 Nov 7. Nature. 2018. PMID: 30405244 Free PMC article.
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D; Undiagnosed Diseases Network, Brigham and Women’s Hospital FaceBase Project, Brigham Genomic Medicine (BGM). Haghighi A, et al. Among authors: cassa ca. NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018. NPJ Genom Med. 2018. PMID: 30131872 Free PMC article. Review.
47 results