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Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB. Lessel D, et al. Among authors: mcsweeney km. Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19. Hum Genet. 2018. PMID: 30450527 Free PMC article.
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Zhu X, Petrovski S, Xie P, Ruzzo EK, Lu YF, McSweeney KM, Ben-Zeev B, Nissenkorn A, Anikster Y, Oz-Levi D, Dhindsa RS, Hitomi Y, Schoch K, Spillmann RC, Heimer G, Marek-Yagel D, Tzadok M, Han Y, Worley G, Goldstein J, Jiang YH, Lancet D, Pras E, Shashi V, McHale D, Need AC, Goldstein DB. Zhu X, et al. Among authors: mcsweeney km. Genet Med. 2015 Oct;17(10):774-81. doi: 10.1038/gim.2014.191. Epub 2015 Jan 15. Genet Med. 2015. PMID: 25590979 Free PMC article.
Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition.
Petrovski S, Shashi V, Petrou S, Schoch K, McSweeney KM, Dhindsa RS, Krueger B, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Petrovski S, et al. Among authors: mcsweeney km. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000257. doi: 10.1101/mcs.a000257. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148561 Free PMC article.
Clinical application of whole-genome sequencing in patients with primary immunodeficiency.
Mousallem T, Urban TJ, McSweeney KM, Kleinstein SE, Zhu M, Adeli M, Parrott RE, Roberts JL, Krueger B, Buckley RH, Goldstein DB. Mousallem T, et al. Among authors: mcsweeney km. J Allergy Clin Immunol. 2015 Aug;136(2):476-9.e6. doi: 10.1016/j.jaci.2015.02.040. Epub 2015 May 14. J Allergy Clin Immunol. 2015. PMID: 25981738 Free PMC article.
Annotating pathogenic non-coding variants in genic regions.
Gelfman S, Wang Q, McSweeney KM, Ren Z, La Carpia F, Halvorsen M, Schoch K, Ratzon F, Heinzen EL, Boland MJ, Petrovski S, Goldstein DB. Gelfman S, et al. Among authors: mcsweeney km. Nat Commun. 2017 Aug 9;8(1):236. doi: 10.1038/s41467-017-00141-2. Nat Commun. 2017. PMID: 28794409 Free PMC article.
meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays.
Gelfman S, Wang Q, Lu YF, Hall D, Bostick CD, Dhindsa R, Halvorsen M, McSweeney KM, Cotterill E, Edinburgh T, Beaumont MA, Frankel WN, Petrovski S, Allen AS, Boland MJ, Goldstein DB, Eglen SJ. Gelfman S, et al. Among authors: mcsweeney km. PLoS Comput Biol. 2018 Oct 1;14(10):e1006506. doi: 10.1371/journal.pcbi.1006506. eCollection 2018 Oct. PLoS Comput Biol. 2018. PMID: 30273353 Free PMC article.
13 results