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2020 2
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Page 1
Convalescent plasma for pediatric patients with SARS-CoV-2-associated acute respiratory distress syndrome.
Diorio C, Anderson EM, McNerney KO, Goodwin EC, Chase JC, Bolton MJ, Arevalo CP, Weirick ME, Gouma S, Vella LA, Henrickson SE, Chiotos K, Fitzgerald JC, Kilbaugh TJ, John ARO, Blatz AM, Lambert MP, Sullivan KE, Tartaglione MR, Zambrano D, Martin M, Lee JH, Young P, Friedman D, Sesok-Pizzini DA, Hensley SE, Behrens EM, Bassiri H, Teachey DT. Diorio C, et al. Pediatr Blood Cancer. 2020 Nov;67(11):e28693. doi: 10.1002/pbc.28693. Epub 2020 Sep 4. Pediatr Blood Cancer. 2020. PMID: 32885904 Free PMC article.
Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management.
Duffy KA, Cielo CM, Cohen JL, Gonzalez-Gandolfi CX, Griff JR, Hathaway ER, Kupa J, Taylor JA, Wang KH, Ganguly A, Deardorff MA, Kalish JM. Duffy KA, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):693-708. doi: 10.1002/ajmg.c.31740. Epub 2019 Aug 30. Am J Med Genet C Semin Med Genet. 2019. PMID: 31469230 Free PMC article.
Renal medullary carcinomas depend upon SMARCB1 loss and are sensitive to proteasome inhibition.
Hong AL, Tseng YY, Wala JA, Kim WJ, Kynnap BD, Doshi MB, Kugener G, Sandoval GJ, Howard TP, Li J, Yang X, Tillgren M, Ghandi M, Sayeed A, Deasy R, Ward A, McSteen B, Labella KM, Keskula P, Tracy A, Connor C, Clinton CM, Church AJ, Crompton BD, Janeway KA, Van Hare B, Sandak D, Gjoerup O, Bandopadhayay P, Clemons PA, Schreiber SL, Root DE, Gokhale PC, Chi SN, Mullen EA, Roberts CW, Kadoch C, Beroukhim R, Ligon KL, Boehm JS, Hahn WC. Hong AL, et al. Elife. 2019 Mar 12;8:e44161. doi: 10.7554/eLife.44161. Elife. 2019. PMID: 30860482 Free PMC article.
Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations.
Grand K, Gonzalez-Gandolfi C, Ackermann AM, Aljeaid D, Bedoukian E, Bird LM, De Leon DD, Diaz J, Hopkin RJ, Kadakia SP, Keena B, Klein KO, Krantz I, Leon E, Lord K, McDougall C, Medne L, Skraban CM, Stanley CA, Tarpinian J, Zackai E, Deardorff MA, Kalish JM. Grand K, et al. Am J Med Genet A. 2019 Apr;179(4):542-551. doi: 10.1002/ajmg.a.61062. Epub 2019 Feb 4. Am J Med Genet A. 2019. PMID: 30719864 Free PMC article.
Beckwith-Wiedemann syndrome in diverse populations.
Duffy KA, Sajorda BJ, Yu AC, Hathaway ER, Grand KL, Deardorff MA, Kalish JM. Duffy KA, et al. Am J Med Genet A. 2019 Apr;179(4):525-533. doi: 10.1002/ajmg.a.61053. Epub 2019 Feb 4. Am J Med Genet A. 2019. PMID: 30719840 Free PMC article.