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The CHK1 inhibitor prexasertib in BRCA wild-type platinum-resistant recurrent high-grade serous ovarian carcinoma: a phase 2 trial.
Giudice E, Huang TT, Nair JR, Zurcher G, McCoy A, Nousome D, Radke MR, Swisher EM, Lipkowitz S, Ibanez K, Donohue D, Malys T, Lee MJ, Redd B, Levy E, Rastogi S, Sato N, Trepel JB, Lee JM. Giudice E, et al. Among authors: ibanez k. Nat Commun. 2024 Mar 30;15(1):2805. doi: 10.1038/s41467-024-47215-6. Nat Commun. 2024. PMID: 38555285 Free PMC article. Clinical Trial.
Safety and efficacy of ibrutinib in combination with rituximab and lenalidomide in previously untreated follicular and marginal zone lymphoma: An open label, phase 2 study.
Gordon MJ, Feng L, Strati P, Lee HJ, Hagemeister FB, Westin JR, Samaniego F, Marques-Piubelli ML, Vega Vazquez F, Parra Cuentas ER, Solis-Soto LM, Ma W, Wang J, Claret L, Averill B, Ibanez K, Fayad LE, Flowers CR, Green MR, Davis RE, Neelapu SS, Fowler NH, Nastoupil LJ. Gordon MJ, et al. Among authors: ibanez k. Cancer. 2024 Mar 15;130(6):876-885. doi: 10.1002/cncr.35114. Epub 2023 Nov 20. Cancer. 2024. PMID: 37985359 Clinical Trial.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.
Lam T, Rocca C, Ibanez K, Dalmia A, Tallman S, Hadjivassiliou M, Hensiek A, Nemeth A, Facchini S; Genomics England Research Consortium; Wood N, Cortese A, Houlden H, Tucci A. Lam T, et al. Among authors: ibanez k. Brain Commun. 2023 Sep 14;5(5):fcad244. doi: 10.1093/braincomms/fcad244. eCollection 2023. Brain Commun. 2023. PMID: 37810464 Free PMC article.
POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS.
Ibañez K, Jadhav B, Facchini S, Garg P, Zanovello M, Martin-Trujillo A, Gies SJ, Deforie VG, Gagliardi D, Hensman D, Moutsianas L, Shoai M; Genomics England Research Consortium; EUROSCA network; Caulfield MJ, Cortese A, Escott-Price V, Hardy J, Houlden H, Sharp AJ, Tucci A. Ibañez K, et al. medRxiv [Preprint]. 2023 Jul 6:2023.07.03.23292162. doi: 10.1101/2023.07.03.23292162. medRxiv. 2023. PMID: 37461547 Free PMC article. Preprint.
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Dominik N, Magri S, Currò R, Abati E, Facchini S, Corbetta M, Macpherson H, Di Bella D, Sarto E, Stevanovski I, Chintalaphani SR, Akcimen F, Manini A, Vegezzi E, Quartesan I, Montgomery KA, Pirota V, Crespan E, Perini C, Grupelli GP, Tomaselli PJ, Marques W; Genomics England Research Consortium; Shaw J, Polke J, Salsano E, Fenu S, Pareyson D, Pisciotta C, Tofaris GK, Nemeth AH, Ealing J, Radunovic A, Kearney S, Kumar KR, Vucic S, Kennerson M, Reilly MM, Houlden H, Deveson I, Tucci A, Taroni F, Cortese A. Dominik N, et al. Brain. 2023 Dec 1;146(12):5060-5069. doi: 10.1093/brain/awad240. Brain. 2023. PMID: 37450567 Free PMC article.
74 results