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Page 1
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.
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.
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.
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.
Kruszka P, Tanpaiboon P, Neas K, Crosby K, Berger SI, Martinez AF, Addissie YA, Pongprot Y, Sittiwangkul R, Silvilairat S, Makonkawkeyoon K, Yu L, Wynn J, Bennett JT, Mefford HC, Reynolds WT, Liu X, Mommersteeg MTM, Chung WK, Lo CW, Muenke M. Kruszka P, et al. Among authors: berger si. J Med Genet. 2017 Dec;54(12):825-829. doi: 10.1136/jmedgenet-2017-104611. Epub 2017 Jun 7. J Med Genet. 2017. PMID: 28592524
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Negi S, Stenton SL, Berger SI, McNulty B, Violich I, Gardner J, Hillaker T, O'Rourke SM, O'Leary MC, Carbonell E, Austin-Tse C, Lemire G, Serrano J, Mangilog B, VanNoy G, Kolmogorov M, Vilain E, O'Donnell-Luria A, Délot E, Miga KH, Monlong J, Paten B. Negi S, et al. Among authors: berger si. medRxiv [Preprint]. 2024 Aug 22:2024.08.22.24312327. doi: 10.1101/2024.08.22.24312327. medRxiv. 2024. PMID: 39228712 Free PMC article. Preprint.
Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome via alteration of metabolic signaling.
Chapman KA, Ullah F, Yahiku ZA, Kodiparthi SV, Kellaris G, Correia SP, Stödberg T, Sofokleous C, Marinakis NM, Fryssira H, Tsoutsou E, Traeger-Synodinos J, Accogli A, Salpietro V, Striano P, Berger SI, Pond KW, Sirimulla S, Davis EE, Bhattacharya MR. Chapman KA, et al. Among authors: berger si. medRxiv [Preprint]. 2024 Jul 1:2024.06.27.24309417. doi: 10.1101/2024.06.27.24309417. medRxiv. 2024. PMID: 39006436 Free PMC article. Preprint.
61 results