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Page 1
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Among authors: schroeder a. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto C, D'Aco K, Araujo GC, Shannon N; DDD Study; Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M. DeSanto C, et al. Among authors: schroeder a. J Med Genet. 2015 Nov;52(11):754-61. doi: 10.1136/jmedgenet-2015-103069. Epub 2015 Aug 11. J Med Genet. 2015. PMID: 26264232
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. Fregeau B, et al. Among authors: schroeder a. Am J Hum Genet. 2016 May 5;98(5):963-970. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14. Am J Hum Genet. 2016. PMID: 27087320 Free PMC article.
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Medico Salsench E, Maroofian R, Deng R, Lanko K, Nikoncuk A, Pérez B, Sánchez-Lijarcio O, Ibáñez-Mico S, Wojcik A, Vargas M, Abbas Al-Sannaa N, Girgis MY, Silveira TRD, Bauer P, Schroeder A, Fong CT, Begtrup A, Babaei M, Toosi MB, Ashrafzadeh F, Imannezhad S, Doosti M, Ahangari N, Najarzadeh Torbati P, Ghayoor Karimiani E, Murphy D, Cali E, Kaya IH, AlMuhaizea M, Colak D, Cardona-Londoño KJ, Arold ST, Houlden H, Bertoli-Avella A, Kaya N, Barakat TS. Medico Salsench E, et al. Among authors: schroeder a. Brain. 2021 Nov 29;144(10):e85. doi: 10.1093/brain/awab297. Brain. 2021. PMID: 34373908 Free PMC article. No abstract available.
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
de Prisco N, Ford C, Elrod ND, Lee W, Tang LC, Huang KL, Lin A, Ji P, Jonnakuti VS, Boyle L, Cabaj M, Botta S, Õunap K, Reinson K, Wojcik MH, Rosenfeld JA, Bi W, Tveten K, Prescott T, Gerstner T, Schroeder A, Fong CT, George-Abraham JK, Buchanan CA, Hanson-Khan A, Bernstein JA, Nella AA, Chung WK, Brandt V, Jovanovic M, Targoff KL, Yalamanchili HK, Wagner EJ, Gennarino VA. de Prisco N, et al. Among authors: schroeder a. Sci Adv. 2023 Feb 17;9(7):eade4814. doi: 10.1126/sciadv.ade4814. Epub 2023 Feb 17. Sci Adv. 2023. PMID: 36800428 Free PMC article.
Alternative antibiotic selections during the 2022 amoxicillin shortage in the US.
Ramgopal S, Rosenman M, Zhang L, Cotter J, Sartori LF, Lipshaw MJ, Banks AR, Schroeder AR, Lales G, Alexander K, Michelson KA, Florin TA. Ramgopal S, et al. Among authors: schroeder ar. J Pediatric Infect Dis Soc. 2024 Dec 12:piae122. doi: 10.1093/jpids/piae122. Online ahead of print. J Pediatric Infect Dis Soc. 2024. PMID: 39663429
Care Models to Improve Pain and Reduce Opioids Among Patients Prescribed Long-Term Opioid Therapy: The VOICE Randomized Clinical Trial.
Krebs EE, Becker WC, Nelson DB, DeRonne BM, Jensen AC, Kats AM, Morasco BJ, Frank JW, Makris UE, Allen KD, Naylor JC, Mixon AS, Bohnert A, Reznik TE, Painter JT, Hudson TJ, Hagedorn HJ, Manuel JK, Borsari B, Purcell N, Hammett P, Amundson EC, Kerns RD, Barbosa MR, Garvey C, Jones EJ, Noh MY, Okere JB, Bhushan S, Pinsonnault J, Williams BE, Herbst E, Lagisetty P, Librodo S, Mapara PS, Son E, Tat C, Marraffa RA, Seys RL, Baxley C, Seal KH; VOICE Study Group. Krebs EE, et al. JAMA Intern Med. 2024 Dec 9. doi: 10.1001/jamainternmed.2024.6683. Online ahead of print. JAMA Intern Med. 2024. PMID: 39652356
International consensus position statement on the role of obesity management medications in the context of metabolic bariatric surgery: expert guideline by the International Federation for the Surgery of Obesity and Metabolic Disorders (IFSO).
Cohen RV, Busetto L, Levinson R, Le Roux CW, Salminen P, Prager G; International Consensus on the Role of Obesity Management Medications in the Context of Metabolic Bariatric Surgery. Cohen RV, et al. Br J Surg. 2024 Nov 27;111(12):znae283. doi: 10.1093/bjs/znae283. Br J Surg. 2024. PMID: 39612579 No abstract available.
1,031 results