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Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D, Schouten MI, Stunnenberg BC, Kusters B, Saris CGJ, Erasmus CE, van Engelen BG, Bulk S, Verschuuren-Bemelmans CC, Gerkes EH, de Geus C, van der Zwaag PA, Chan S, Chung B, Barge-Schaapveld DQCM, Kriek M, Sznajer Y, van Spaendonck-Zwarts K, van der Kooi AJ, Krause A, Schönewolf-Greulich B, de Die-Smulders C, Sallevelt SCEH, Krapels IPC, Rasmussen M, Maystadt I, Kievit AJA, Witting N, Pennings M, Meijer R, Gillissen C, Kamsteeg EJ, Voermans NC. Westra D, et al. Among authors: krause a. J Neuromuscul Dis. 2019;6(2):241-258. doi: 10.3233/JND-180376. J Neuromuscul Dis. 2019. PMID: 31127727
Retrospective file review shows limited genetic services fails most patients - an argument for the implementation of exome sequencing as a first-tier test in resource-constraint settings.
Wiener EK, Buchanan J, Krause A, Lombard Z; DDD-Africa Study, as members of the H3Africa Consortium. Wiener EK, et al. Among authors: krause a. Orphanet J Rare Dis. 2023 Apr 12;18(1):81. doi: 10.1186/s13023-023-02642-4. Orphanet J Rare Dis. 2023. PMID: 37046271 Free PMC article.
Implications of direct-to-consumer whole-exome sequencing in South Africa.
Lombard Z, Baine F, Krause A, Lochan A, Macualay S, Spencer C, Aldous C, De Vries J, Fieggen K, Henderson B, Hoal E, Kinnear C, Kinsley N, September A, Urban M, Soodyall H, Pepper M, Ramsay M. Lombard Z, et al. Among authors: krause a. S Afr Med J. 2016 Jan 12;106(2):139-40. doi: 10.7196/SAMJ.2016.v106i2.10534. S Afr Med J. 2016. PMID: 26821891
1,058 results