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Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, Baxter RM, Zeng W, Mroske C, Parra MC, Gandomi SK, Lu I, Li X, Lu H, Lu HM, Salvador D, Ruble D, Lao M, Fischbach S, Wen J, Lee S, Elliott A, Dunlop CL, Tang S. Farwell KD, et al. Among authors: baxter rm. Genet Med. 2015 Jul;17(7):578-86. doi: 10.1038/gim.2014.154. Epub 2014 Nov 13. Genet Med. 2015. PMID: 25356970 Free article.
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, Maxwell KN, Domchek S, Morman NA, Heinlen C, Wham D, Koptiuch C, Vagher J, Rivera R, Bunnell A, Patel G, Geurts JL, Depas MM, Gaonkar S, Pirzadeh-Miller S, Krukenberg R, Seidel M, Pilarski R, Farmer M, Pyrtel K, Milliron K, Lee J, Hoodfar E, Nathan D, Ganzak AC, Wu S, Vuong H, Xu D, Arulmoli A, Parra M, Hoang L, Molparia B, Fennessy M, Fox S, Charpentier S, Burdette J, Pesaran T, Profato J, Smith B, Haynes G, Dalton E, Crandall JR, Baxter R, Lu HM, Tippin-Davis B, Elliott A, Chao E, Karam R. Landrith T, et al. NPJ Precis Oncol. 2020 Feb 24;4:4. doi: 10.1038/s41698-020-0109-y. eCollection 2020. NPJ Precis Oncol. 2020. PMID: 32133419 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33594121
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. Baxter RM, et al. J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. doi: 10.1210/jc.2014-2605. Epub 2014 Nov 10. J Clin Endocrinol Metab. 2015. PMID: 25383892 Free PMC article.
Acceleration of age-associated methylation patterns in HIV-1-infected adults.
Rickabaugh TM, Baxter RM, Sehl M, Sinsheimer JS, Hultin PM, Hultin LE, Quach A, Martínez-Maza O, Horvath S, Vilain E, Jamieson BD. Rickabaugh TM, et al. Among authors: baxter rm. PLoS One. 2015 Mar 25;10(3):e0119201. doi: 10.1371/journal.pone.0119201. eCollection 2015. PLoS One. 2015. PMID: 25807146 Free PMC article.
77 results