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Pan-Filovirus Serum Neutralizing Antibodies in a Subset of Congolese Ebolavirus Infection Survivors.
Bramble MS, Hoff N, Gilchuk P, Mukadi P, Lu K, Doshi RH, Steffen I, Nicholson BP, Lipson A, Vashist N, Sinai C, Spencer D, Olinger G, Wemakoy EO, Illunga BK, Pettitt J, Logue J, Marchand J, Varughese J, Bennett RS, Jahrling P, Cavet G, Serafini T, Ollmann Saphire E, Vilain E, Muyembe-Tamfum JJ, Hensely LE, Simmons G, Crowe JE Jr, Rimoin AW. Bramble MS, et al. Among authors: lipson a. J Infect Dis. 2018 Nov 5;218(12):1929-1936. doi: 10.1093/infdis/jiy453. J Infect Dis. 2018. PMID: 30107445 Free PMC article.
A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing.
Bramble MS, Goldstein EH, Lipson A, Ngun T, Eskin A, Gosschalk JE, Roach L, Vashist N, Barseghyan H, Lee E, Arboleda VA, Vaiman D, Yuksel Z, Fellous M, Vilain E. Bramble MS, et al. Among authors: lipson a. Hum Reprod. 2016 Apr;31(4):905-14. doi: 10.1093/humrep/dew025. Epub 2016 Feb 23. Hum Reprod. 2016. PMID: 26911863 Free PMC article.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL; Undiagnosed Diseases Network Members; Goldstein DB, Shashi V. Pena LDM, et al. Genet Med. 2018 Apr;20(4):464-469. doi: 10.1038/gim.2017.128. Epub 2017 Sep 14. Genet Med. 2018. PMID: 28914269 Free PMC article.
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. Am J Hum Genet. 2018. PMID: 30193138 Free PMC article. No abstract available.
181 results