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Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.
Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, Nassur JA, Rand EB, Krock BL, Kamath BM, Krantz ID, Piccoli DA, Loomes KM, Spinner NB. Gilbert MA, et al. Among authors: chao g. Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31343788 Free PMC article.
NOTCH2 mutations in Alagille syndrome.
Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB. Kamath BM, et al. Among authors: chao g. J Med Genet. 2012 Feb;49(2):138-44. doi: 10.1136/jmedgenet-2011-100544. Epub 2011 Dec 29. J Med Genet. 2012. PMID: 22209762 Free PMC article.
Clinical utility gene card for: Alagille Syndrome (ALGS).
Leonard LD, Chao G, Baker A, Loomes K, Spinner NB. Leonard LD, et al. Among authors: chao g. Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.140. Epub 2013 Jul 24. Eur J Hum Genet. 2014. PMID: 23881058 Free PMC article. No abstract available.
Catalytically distinct IDH1 mutants tune phenotype severity in tumor models.
Adam MAA, Robinson M, Schwartz AV, Wells G, Hoang A, Albekioni E, Chao G, Weeks J, George UZ, House CD, Turcan Ş, Sohl CD. Adam MAA, et al. Among authors: chao g. bioRxiv [Preprint]. 2024 Apr 23:2024.04.22.590655. doi: 10.1101/2024.04.22.590655. bioRxiv. 2024. PMID: 38712107 Free PMC article. Preprint.
A Significant Contribution of the Classical Pathway of Complement in SARS-CoV-2 Neutralization of Convalescent and Vaccinee Sera.
Budylowski P, Chau SLL, Banerjee A, Guvenc F, Samson R, Hu Q, Fiddes L, Seifried L, Chao G, Buchholz M, Estacio A, Cheatley PL, Pavenski K, Patriquin CJ, Liu Y, Sheikh-Mohamed S, Crasta K, Yue F, Pasic MD, Mossman K, Gingras AC, Gommerman JL, Ehrhardt GRA, Mubareka S, Ostrowski M. Budylowski P, et al. Among authors: chao g. J Immunol. 2024 Jun 15;212(12):1922-1931. doi: 10.4049/jimmunol.2300320. J Immunol. 2024. PMID: 38683124
269 results