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publications [2020/10/27 23:45]
cassa
publications [2022/05/19 14:35] (current)
cassa
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 ===== Selected Recent Publications ===== ===== Selected Recent Publications =====
  
 +  - Resolving Discordant Variant Classifications using Clinical Guideline Evidence. Bhat V, Adzhubei IA, Fife JD, Lebo M, **Cassa CA**. Preprint on medRxiv. doi: https://doi.org/10.1101/2022.05.16.22275073
 +  - A framework for integrated clinical risk assessment using population sequencing data. Fife JD, Tran T, Bernatchez JR, Shepard KE, Koch C, Patel AP, Fahed AC, Krishnamurthy S, Regeneron Genetics Center, DiscovEHR Collaboration, Wang W, Buchanan AH, Carey DJ, Metpally R, Khera AV, Lebo M, **Cassa CA**. Preprint on medRxiv. doi: https://doi.org/10.1101/2021.08.12.21261563
 +  - The missing link between genetic association and regulatory function. Connally N, Nazeen S, Lee D, Shi H, Stamatoyannopoulos J, Chun S. Cotsapas C, **Cassa C**, Sunyaev S. Preprint on medRxiv. doi: https://doi.org/10.1101/2021.06.08.21258515
 +  - 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 K, Slowik V, Nejentsev S, Neves JF, Flores H, Chung WK, Wilson A, Yeboa KA, Wou K, Jain P, Field M, Tollefson S, Dent MH, Li D, Naito T, McGovern DPB, Kwong AC, Taliaferro F, Ordovas-Montanes J, Horwitz B, 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. J Crohns Colitis. 2021 Apr 23:jjab077. doi: 10.1093/ecco-jcc/jjab077. PMID: 33891011
 +  - Louie W, Shen MW, Tahiry Z, Zhang S, Worstell D, **Cassa CA**, Sherwood RI, Gifford DK. Machine learning based CRISPR gRNA design for therapeutic exon skipping. PLoS Comput Biol. 2021 Jan 8;17(1):e1008605. doi: 10.1371/journal.pcbi.1008605. eCollection 2021 Jan. PMID: 33417623 
   - Kousi M, Soylemez O, Ozanturk A, Mourtzi N, Akle S, Jungreis I, Jungreis I, Muller J, **Cassa  CA**, Brand H, Mokry JA, Wolf MY, Sadeghpour A, McFadden K,  Lewis RA, Talkowski ME, Dollfus H, Kellis M, Davis EE, Sunyaev SR, Katsanis N. Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. //Nat. Gen.// 2020 Oct 12. PMID: 33046855 DOI: 10.1038/s41588-020-0707-1   - Kousi M, Soylemez O, Ozanturk A, Mourtzi N, Akle S, Jungreis I, Jungreis I, Muller J, **Cassa  CA**, Brand H, Mokry JA, Wolf MY, Sadeghpour A, McFadden K,  Lewis RA, Talkowski ME, Dollfus H, Kellis M, Davis EE, Sunyaev SR, Katsanis N. Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. //Nat. Gen.// 2020 Oct 12. PMID: 33046855 DOI: 10.1038/s41588-020-0707-1
   - Akinci E, Cha M, Lin L, Yeo G, Hamilton MC, Donahue CJ, Bermudez-Cabrera HC, Zanetti LC, Chen M, Barkal SA, Khowpinitchai B, Chu N, Velimirovic M, Jodhani R, Fife JD, Sovrovic M, Cole PA, Davey RA, **Cassa CA**, Sherwood RI. Elucidation of remdesivir cytotoxicity pathways through genome-wide CRISPR-Cas9 screening and transcriptomics. //bioRxiv// 2020 Aug 28:2020.08.27.270819. doi: 10.1101/2020.08.27.270819. (Preprint.) PMID: 32869031    - Akinci E, Cha M, Lin L, Yeo G, Hamilton MC, Donahue CJ, Bermudez-Cabrera HC, Zanetti LC, Chen M, Barkal SA, Khowpinitchai B, Chu N, Velimirovic M, Jodhani R, Fife JD, Sovrovic M, Cole PA, Davey RA, **Cassa CA**, Sherwood RI. Elucidation of remdesivir cytotoxicity pathways through genome-wide CRISPR-Cas9 screening and transcriptomics. //bioRxiv// 2020 Aug 28:2020.08.27.270819. doi: 10.1101/2020.08.27.270819. (Preprint.) PMID: 32869031