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A case of gliosarcoma appearing as ischaemic stroke.
Züchner S, Kawohl W, Sellhaus B, Mull M, Mayfrank L, Kosinski CM. Züchner S, et al. J Neurol Neurosurg Psychiatry. 2003 Mar;74(3):364-6. doi: 10.1136/jnnp.74.3.364. J Neurol Neurosurg Psychiatry. 2003. PMID: 12588929 Free PMC article.
Early-onset stroke associated with a mutation in mitofusin 2.
Chung KW, Cho SY, Hwang SJ, Kim KH, Yoo JH, Kwon O, Kim SM, Sunwoo IN, Züchner S, Choi BO. Chung KW, et al. Among authors: zuchner s. Neurology. 2008 May 20;70(21):2010-1. doi: 10.1212/01.wnl.0000312513.96457.7a. Neurology. 2008. PMID: 18490623 No abstract available.
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network; Sunyaev SR, Kohane IS. Kobren SN, et al. Among authors: zuchner s. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. Genet Med. 2021. PMID: 33580225 Free PMC article.
Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.
Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J; Undiagnosed Diseases Network (UDN); Moore SA, Hamid R; Members of the Undiagnosed Diseases Network. Bhatia A, et al. Clin Imaging. 2019 Nov-Dec;58:108-113. doi: 10.1016/j.clinimag.2019.06.010. Epub 2019 Jun 21. Clin Imaging. 2019. PMID: 31299614 Free PMC article.
Genomics in medicine: a novel elective rotation for internal medicine residents.
Geng LN, Kohler JN, Levonian P; Members of the Undiagnosed Diseases Network; Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M. Geng LN, et al. Postgrad Med J. 2019 Oct;95(1128):569-572. doi: 10.1136/postgradmedj-2018-136355. Epub 2019 Aug 22. Postgrad Med J. 2019. PMID: 31439813
The "All of Us" Research Program.
All of Us Research Program Investigators; Denny JC, Rutter JL, Goldstein DB, Philippakis A, Smoller JW, Jenkins G, Dishman E. All of Us Research Program Investigators, et al. N Engl J Med. 2019 Aug 15;381(7):668-676. doi: 10.1056/NEJMsr1809937. N Engl J Med. 2019. PMID: 31412182 Free PMC article.
The All of Us Research Program: Data quality, utility, and diversity.
Ramirez AH, Sulieman L, Schlueter DJ, Halvorson A, Qian J, Ratsimbazafy F, Loperena R, Mayo K, Basford M, Deflaux N, Muthuraman KN, Natarajan K, Kho A, Xu H, Wilkins C, Anton-Culver H, Boerwinkle E, Cicek M, Clark CR, Cohn E, Ohno-Machado L, Schully SD, Ahmedani BK, Argos M, Cronin RM, O'Donnell C, Fouad M, Goldstein DB, Greenland P, Hebbring SJ, Karlson EW, Khatri P, Korf B, Smoller JW, Sodeke S, Wilbanks J, Hentges J, Mockrin S, Lunt C, Devaney SA, Gebo K, Denny JC, Carroll RJ, Glazer D, Harris PA, Hripcsak G, Philippakis A, Roden DM; All of Us Research Program. Ramirez AH, et al. Patterns (N Y). 2022 Aug 12;3(8):100570. doi: 10.1016/j.patter.2022.100570. eCollection 2022 Aug 12. Patterns (N Y). 2022. PMID: 36033590 Free PMC article.
Hypertension prevalence in the All of Us Research Program among groups traditionally underrepresented in medical research.
Chandler PD, Clark CR, Zhou G, Noel NL, Achilike C, Mendez L, Ramirez AH, Loperena-Cortes R, Mayo K, Cohn E, Ohno-Machado L, Boerwinkle E, Cicek M, Qian J, Schully S, Ratsimbazafy F, Mockrin S, Gebo K, Dedier JJ, Murphy SN, Smoller JW, Karlson EW; All of Us Research Program Investigators. Chandler PD, et al. Sci Rep. 2021 Jun 22;11(1):12849. doi: 10.1038/s41598-021-92143-w. Sci Rep. 2021. PMID: 34158555 Free PMC article.
Community Engagement Practices at Research Centers in U.S. Minority Institutions: Priority Populations and Innovative Approaches to Advancing Health Disparities Research.
Henry Akintobi T, Sheikhattari P, Shaffer E, Evans CL, Braun KL, Sy AU, Mancera B, Campa A, Miller ST, Sarpong D, Holliday R, Jimenez-Chavez J, Khan S, Hinton C, Sellars-Bates K, Ajewole V, Teufel-Shone NI, McMullin J, Suther S, Kimbro KS, Taylor L, Velez Vega CM, Williams C, Perry G, Zuchner S, Marzan Rodriguez M, Tchounwou PB. Henry Akintobi T, et al. Among authors: zuchner s. Int J Environ Res Public Health. 2021 Jun 21;18(12):6675. doi: 10.3390/ijerph18126675. Int J Environ Res Public Health. 2021. PMID: 34205781 Free PMC article.
Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO; Undiagnosed Diseases Network; Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Borroto MC, et al. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. Pediatr Neurol. 2024. PMID: 39181022 Free article.
428 results