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Page 1
Secondary bone marrow graft loss after third-party virus-specific T cell infusion: Case report of a rare complication.
Keller MD, Schattgen SA, Chandrakasan S, Allen EK, Jensen-Wachspress MA, Lazarski CA, Qayed M, Lang H, Hanley PJ, Tanna J, Pai SY, Parikh S, Berger SI, Gottschalk S, Pulsipher MA, Thomas PG, Bollard CM. Keller MD, et al. Among authors: berger si. Nat Commun. 2024 Mar 29;15(1):2749. doi: 10.1038/s41467-024-47056-3. Nat Commun. 2024. PMID: 38553461 Free PMC article.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Chen Y, Dawes R, Kim HC, Ljungdahl A, Stenton SL, Walker S, Lord J, Lemire G, Martin-Geary AC, Ganesh VS, Ma J, Ellingford JM, Delage E, D'Souza EN, Dong S, Adams DR, Allan K, Bakshi M, Baldwin EE, Berger SI, Bernstein JA, Bhatnagar I, Blair E, Brown NJ, Burrage LC, Chapman K, Coman DJ, Compton AG, Cunningham CA, D'Souza P, Danecek P, Délot EC, Dias KR, Elias ER, Elmslie F, Evans CA, Ewans L, Ezell K, Fraser JL, Gallacher L, Genetti CA, Goriely A, Grant CL, Haack T, Higgs JE, Hinch AG, Hurles ME, Kuechler A, Lachlan KL, Lalani SR, Lecoquierre F, Leitão E, Fevre AL, Leventer RJ, Liebelt JE, Lindsay S, Lockhart PJ, Ma AS, Macnamara EF, Mansour S, Maurer TM, Mendez HR, Metcalfe K, Montgomery SB, Moosajee M, Nassogne MC, Neumann S, O'Donoghue M, O'Leary M, Palmer EE, Pattani N, Phillips J, Pitsava G, Pysar R, Rehm HL, Reuter CM, Revencu N, Riess A, Rius R, Rodan L, Roscioli T, Rosenfeld JA, Sachdev R, Shaw-Smith CJ, Simons C, Sisodiya SM, Snell P, St Clair L, Stark Z, Stewart HS, Tan TY, Tan NB, Temple SEL, Thorburn DR, Tifft CJ, Uebergang E, VanNoy GE, Vasudevan P, Vilain E, Viskochil DH, Wedd L, Wheeler MT, White SM, Wojcik M, Wolfe LA, Wolfenson Z, Wright CF, Xiao C, Zocche … See abstract for full author list ➔ Chen Y, et al. Among authors: berger si. Nature. 2024 Aug;632(8026):832-840. doi: 10.1038/s41586-024-07773-7. Epub 2024 Jul 11. Nature. 2024. PMID: 38991538 Free PMC article.
Multiscale mapping of transcriptomic signatures for cardiotoxic drugs.
Hansen J, Xiong Y, Siddiq MM, Dhanan P, Hu B, Shewale B, Yadaw AS, Jayaraman G, Tolentino RE, Chen Y, Martinez P, Beaumont KG, Sebra R, Vidovic D, Schürer SC, Goldfarb J, Gallo JM, Birtwistle MR, Sobie EA, Azeloglu EU, Berger SI, Chan A, Schaniel C, Dubois NC, Iyengar R. Hansen J, et al. Among authors: berger si. Nat Commun. 2024 Sep 11;15(1):7968. doi: 10.1038/s41467-024-52145-4. Nat Commun. 2024. PMID: 39261481 Free PMC article.
Unexplained oral and extremity ulcerations in an infant.
Russomanno K, DiLorenzo A, Simpson K, Berger S, Habeshian K. Russomanno K, et al. JAAD Case Rep. 2021 Jan 19;9:97-99. doi: 10.1016/j.jdcr.2021.01.010. eCollection 2021 Mar. JAAD Case Rep. 2021. PMID: 33665289 Free PMC article. No abstract available.
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
Küry S, Ebstein F, Mollé A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogné B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denommé-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnálková E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA; Undiagnosed Diseases Network; Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Krüger E, Margueron R, Bézieau S, Poschmann J, Isidor B. Küry S, et al. Among authors: berger si. Am J Hum Genet. 2022 Feb 3;109(2):361-372. doi: 10.1016/j.ajhg.2021.12.011. Epub 2022 Jan 19. Am J Hum Genet. 2022. PMID: 35051358 Free PMC article.
Using a chat-based informed consent tool in large-scale genomic research.
Savage SK, LoTempio J, Smith ED, Andrew EH, Mas G, Kahn-Kirby AH, Délot E, Cohen AJ, Pitsava G, Nussbaum R, Fusaro VA, Berger S, Vilain E. Savage SK, et al. J Am Med Inform Assoc. 2024 Jan 18;31(2):472-478. doi: 10.1093/jamia/ocad181. J Am Med Inform Assoc. 2024. PMID: 37665746 Free PMC article.
High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.
Al-Kouatly HB, Makhamreh MM, Rice SM, Smith K, Harman C, Quinn A, Valcarcel BN, Firman B, Liu R, Hegde M, Critchlow E, Berger SI. Al-Kouatly HB, et al. Among authors: berger si. Genet Med. 2021 Jul;23(7):1325-1333. doi: 10.1038/s41436-021-01121-0. Epub 2021 Mar 8. Genet Med. 2021. PMID: 33686258 Free article.
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E. Berger SI, et al. Clin Genet. 2023 Sep;104(3):377-383. doi: 10.1111/cge.14360. Epub 2023 May 17. Clin Genet. 2023. PMID: 37194472 Free PMC article.
62 results