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Page 1
Monogenic causes of chronic kidney disease in adults.
Connaughton DM, Kennedy C, Shril S, Mann N, Murray SL, Williams PA, Conlon E, Nakayama M, van der Ven AT, Ityel H, Kause F, Kolvenbach CM, Dai R, Vivante A, Braun DA, Schneider R, Kitzler TM, Moloney B, Moran CP, Smyth JS, Kennedy A, Benson K, Stapleton C, Denton M, Magee C, O'Seaghdha CM, Plant WD, Griffin MD, Awan A, Sweeney C, Mane SM, Lifton RP, Griffin B, Leavey S, Casserly L, de Freitas DG, Holian J, Dorman A, Doyle B, Lavin PJ, Little MA, Conlon PJ, Hildebrandt F. Connaughton DM, et al. Among authors: lifton rp. Kidney Int. 2019 Apr;95(4):914-928. doi: 10.1016/j.kint.2018.10.031. Epub 2019 Feb 14. Kidney Int. 2019. PMID: 30773290 Free PMC article.
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Choi M, et al. Among authors: lifton rp. Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27. Proc Natl Acad Sci U S A. 2009. PMID: 19861545 Free PMC article.
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.
Krauthammer M, Kong Y, Ha BH, Evans P, Bacchiocchi A, McCusker JP, Cheng E, Davis MJ, Goh G, Choi M, Ariyan S, Narayan D, Dutton-Regester K, Capatana A, Holman EC, Bosenberg M, Sznol M, Kluger HM, Brash DE, Stern DF, Materin MA, Lo RS, Mane S, Ma S, Kidd KK, Hayward NK, Lifton RP, Schlessinger J, Boggon TJ, Halaban R. Krauthammer M, et al. Among authors: lifton rp. Nat Genet. 2012 Sep;44(9):1006-14. doi: 10.1038/ng.2359. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842228 Free PMC article.
Whole-exome sequencing reveals somatic mutations in HRAS and KRAS, which cause nevus sebaceus.
Levinsohn JL, Tian LC, Boyden LM, McNiff JM, Narayan D, Loring ES, Yun D, Sugarman JL, Overton JD, Mane SM, Lifton RP, Paller AS, Wagner AM, Antaya RJ, Choate KA. Levinsohn JL, et al. Among authors: lifton rp. J Invest Dermatol. 2013 Mar;133(3):827-830. doi: 10.1038/jid.2012.379. Epub 2012 Oct 25. J Invest Dermatol. 2013. PMID: 23096712 Free PMC article. No abstract available.
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nürnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP. Lemaire M, et al. Among authors: lifton rp. Nat Genet. 2013 May;45(5):531-6. doi: 10.1038/ng.2590. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542698 Free PMC article.
431 results