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Generation of induced pluripotent stem cell lines TRNDi037-A and TRNDi038-A from two patients with Alagille syndrome carrying heterozygous JAG1 mutations.
Evans EF, Chen G, Pavlinov I, Huang X, Linask K, Liu C, Lopez AR, Gilbert MA, Spinner NB, Rodemse S, Baumgärtele K, Chen CZ, Zou J, Zheng W. Evans EF, et al. Among authors: gilbert ma. Stem Cell Res. 2024 Dec 17;82:103634. doi: 10.1016/j.scr.2024.103634. Online ahead of print. Stem Cell Res. 2024. PMID: 39719802
Identifying Priority Science Information Needs for Managing Public Lands.
Carter SK, Haby TS, Samuel EM, Foster AC, Meineke JK, McCall LE, Burton MK, Domschke CT, Espy LD, Gilbert MA. Carter SK, et al. Among authors: gilbert ma. Environ Manage. 2024 Nov 28. doi: 10.1007/s00267-024-02080-3. Online ahead of print. Environ Manage. 2024. PMID: 39607481
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation.
Gilbert MA, Keefer-Jacques E, Jadhav T, Antfolk D, Ming Q, Valente N, Shaw GT, Sottolano CJ, Matwijec G, Luca VC, Loomes KM, Rajagopalan R, Hayeck TJ, Spinner NB. Gilbert MA, et al. Am J Hum Genet. 2024 Aug 8;111(8):1656-1672. doi: 10.1016/j.ajhg.2024.06.011. Epub 2024 Jul 22. Am J Hum Genet. 2024. PMID: 39043182 Free PMC article.
CryoET of β-amyloid and tau within postmortem Alzheimer's disease brain.
Gilbert MAG, Fatima N, Jenkins J, O'Sullivan TJ, Schertel A, Halfon Y, Wilkinson M, Morrema THJ, Geibel M, Read RJ, Ranson NA, Radford SE, Hoozemans JJM, Frank RAW. Gilbert MAG, et al. Nature. 2024 Jul;631(8022):913-919. doi: 10.1038/s41586-024-07680-x. Epub 2024 Jul 10. Nature. 2024. PMID: 38987603 Free PMC article.
Generation of an Alagille Syndrome (ALGS) patient-derived induced pluripotent stem cell line (TRNDi036-A) carrying a heterozygous mutation (p.Cys693*) in the JAG1 gene.
Hatim O, Xu M, Pavlinov I, Linask K, Beers J, Zou J, Liu C, Rodems S, Baumgärtel K, Gilbert MA, Spinner NB, Chen C, Zheng W. Hatim O, et al. Among authors: gilbert ma. Stem Cell Res. 2024 Jun;77:103429. doi: 10.1016/j.scr.2024.103429. Epub 2024 Apr 29. Stem Cell Res. 2024. PMID: 38703666 Free PMC article.
Alagille Syndrome.
Spinner NB, Loomes KM, Krantz ID, Gilbert MA. Spinner NB, et al. Among authors: gilbert ma. 2000 May 19 [updated 2024 Jan 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 May 19 [updated 2024 Jan 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301450 Free Books & Documents. Review.
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.
Vandriel SM, Li LT, She H, Wang JS, Gilbert MA, Jankowska I, Czubkowski P, Gliwicz-Miedzińska D, Gonzales EM, Jacquemin E, Bouligand J, Spinner NB, Loomes KM, Piccoli DA, D'Antiga L, Nicastro E, Sokal É, Demaret T, Ebel NH, Feinstein JA, Fawaz R, Nastasio S, Lacaille F, Debray D, Arnell H, Fischler B, Siew S, Stormon M, Karpen SJ, Romero R, Kim KM, Baek WY, Hardikar W, Shankar S, Roberts AJ, Evans HM, Jensen MK, Kavan M, Sundaram SS, Chaidez A, Karthikeyan P, Sanchez MC, Cavalieri ML, Verkade HJ, Lee WS, Squires JE, Hajinicolaou C, Lertudomphonwanit C, Fischer RT, Larson-Nath C, Mozer-Glassberg Y, Arikan C, Lin HC, Bernabeu JQ, Alam S, Kelly DA, Carvalho E, Ferreira CT, Indolfi G, Quiros-Tejeira RE, Bulut P, Calvo PL, Önal Z, Valentino PL, Desai DM, Eshun J, Rogalidou M, Dezsőfi A, Wiecek S, Nebbia G, Pinto RB, Wolters VM, Tamara ML, Zizzo AN, Garcia J, Schwarz K, Beretta M, Sandahl TD, Jimenez-Rivera C, Kerkar N, Brecelj J, Mujawar Q, Rock N, Busoms CM, Karnsakul W, Lurz E, Santos-Silva E, Blondet N, Bujanda L, Shah U, Thompson RJ, Hansen BE, Kamath BM; Global ALagille Alliance (GALA) Study Group. Vandriel SM, et al. Among authors: gilbert ma. Hepatology. 2023 Feb 1;77(2):512-529. doi: 10.1002/hep.32761. Epub 2022 Oct 13. Hepatology. 2023. PMID: 36036223 Free PMC article.
49 results