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Mutations in TJP2 cause progressive cholestatic liver disease.
Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G; University of Washington Center for Mendelian Genomics; Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ. Sambrotta M, et al. Among authors: ling s. Nat Genet. 2014 Apr;46(4):326-8. doi: 10.1038/ng.2918. Epub 2014 Mar 9. Nat Genet. 2014. PMID: 24614073 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: ling s. 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.
Enteral energy and macronutrients in end-stage liver disease.
Mouzaki M, Ng V, Kamath BM, Selzner N, Pencharz P, Ling SC. Mouzaki M, et al. JPEN J Parenter Enteral Nutr. 2014 Aug;38(6):673-81. doi: 10.1177/0148607114522488. Epub 2014 Feb 14. JPEN J Parenter Enteral Nutr. 2014. PMID: 24531707 Review.
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.
Shlien A, Campbell BB, de Borja R, Alexandrov LB, Merico D, Wedge D, Van Loo P, Tarpey PS, Coupland P, Behjati S, Pollett A, Lipman T, Heidari A, Deshmukh S, Avitzur N, Meier B, Gerstung M, Hong Y, Merino DM, Ramakrishna M, Remke M, Arnold R, Panigrahi GB, Thakkar NP, Hodel KP, Henninger EE, Göksenin AY, Bakry D, Charames GS, Druker H, Lerner-Ellis J, Mistry M, Dvir R, Grant R, Elhasid R, Farah R, Taylor GP, Nathan PC, Alexander S, Ben-Shachar S, Ling SC, Gallinger S, Constantini S, Dirks P, Huang A, Scherer SW, Grundy RG, Durno C, Aronson M, Gartner A, Meyn MS, Taylor MD, Pursell ZF, Pearson CE, Malkin D, Futreal PA, Stratton MR, Bouffet E, Hawkins C, Campbell PJ, Tabori U; Biallelic Mismatch Repair Deficiency Consortium. Shlien A, et al. Among authors: ling sc. Nat Genet. 2015 Mar;47(3):257-62. doi: 10.1038/ng.3202. Epub 2015 Feb 2. Nat Genet. 2015. PMID: 25642631
1,912 results