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Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report.
Glanzmann B, Möller M, Schoeman M, Urban M, van Helden PD, Frigati L, Grewal R, Pieters H, Loos B, Hoal EG, Glashoff RH, Cornelissen H, Rabie H, Esser MM, Kinnear CJ. Glanzmann B, et al. Among authors: schoeman m. BMC Med Genet. 2020 Jun 5;21(1):124. doi: 10.1186/s12881-020-01054-6. BMC Med Genet. 2020. PMID: 32503528 Free PMC article.
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa.
Kinnear C, Glanzmann B, Banda E, Schlechter N, Durrheim G, Neethling A, Nel E, Schoeman M, Johnson G, van Helden PD, Hoal EG, Esser M, Urban M, Möller M. Kinnear C, et al. Among authors: schoeman m. BMC Med Genet. 2017 Mar 14;18(1):26. doi: 10.1186/s12881-017-0388-5. BMC Med Genet. 2017. PMID: 28292286 Free PMC article.
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht C, Urban M, Schoeman M, Paarwater B, van Coller A, Abraham DR, Cornelissen H, Glashoff R, Esser M, Möller M, Kinnear C, Glanzmann B. Engelbrecht C, et al. Among authors: schoeman m. Front Immunol. 2021 May 21;12:665621. doi: 10.3389/fimmu.2021.665621. eCollection 2021. Front Immunol. 2021. PMID: 34093558 Free PMC article.
Genomic medicine and risk prediction across the disease spectrum.
Kotze MJ, Lückhoff HK, Peeters AV, Baatjes K, Schoeman M, van der Merwe L, Grant KA, Fisher LR, van der Merwe N, Pretorius J, van Velden DP, Myburgh EJ, Pienaar FM, van Rensburg SJ, Yako YY, September AV, Moremi KE, Cronje FJ, Tiffin N, Bouwens CS, Bezuidenhout J, Apffelstaedt JP, Hough FS, Erasmus RT, Schneider JW. Kotze MJ, et al. Among authors: schoeman m. Crit Rev Clin Lab Sci. 2015;52(3):120-37. doi: 10.3109/10408363.2014.997930. Epub 2015 Jan 19. Crit Rev Clin Lab Sci. 2015. PMID: 25597499 Review.
Clinical relevance of double heterozygosity revealed by next-generation sequencing of homologous recombination repair pathway genes in South African breast cancer patients.
van der Merwe NC, Buccimazza I, Rossouw B, Araujo M, Ntaita KS, Schoeman M, Vorster K, Napo K, Kotze MJ, Oosthuizen J. van der Merwe NC, et al. Among authors: schoeman m. Breast Cancer Res Treat. 2024 May 30. doi: 10.1007/s10549-024-07362-2. Online ahead of print. Breast Cancer Res Treat. 2024. PMID: 38814507
The bii4africa dataset of faunal and floral population intactness estimates across Africa's major land uses.
Clements HS, Do Linh San E, Hempson G, Linden B, Maritz B, Monadjem A, Reynolds C, Siebert F, Stevens N, Biggs R, De Vos A, Blanchard R, Child M, Esler KJ, Hamann M, Loft T, Reyers B, Selomane O, Skowno AL, Tshoke T, Abdoulaye D, Aebischer T, Aguirre-Gutiérrez J, Alexander GJ, Ali AH, Allan DG, Amoako EE, Angedakin S, Aruna E, Avenant NL, Badjedjea G, Bakayoko A, Bamba-Kaya A, Bates MF, Bates PJJ, Belmain SR, Bennitt E, Bradley J, Brewster CA, Brown MB, Brown M, Bryja J, Butynski TM, Carvalho F, Channing A, Chapman CA, Cohen C, Cords M, Cramer JD, Cronk N, Cunneyworth PMK, Dalerum F, Danquah E, Davies-Mostert HT, de Blocq AD, De Jong YA, Demos TC, Denys C, Djagoun CAMS, Doherty-Bone TM, Drouilly M, du Toit JT, Ehlers Smith DA, Ehlers Smith YC, Eiseb SJ, Fashing PJ, Ferguson AW, Fernández-García JM, Finckh M, Fischer C, Gandiwa E, Gaubert P, Gaugris JY, Gibbs DJ, Gilchrist JS, Gil-Sánchez JM, Githitho AN, Goodman PS, Granjon L, Grobler JP, Gumbi BC, Gvozdik V, Harvey J, Hauptfleisch M, Hayder F, Hema EM, Herbst M, Houngbédji M, Huntley BJ, Hutterer R, Ivande ST, Jackson K, Jongsma GFM, Juste J, Kadjo B, Kaleme PK, Kamugisha E, Kaplin BA, Kato HN, Kiffner C, Kimuyu DM, Kityo RM, Kou… See abstract for full author list ➔ Clements HS, et al. Among authors: schoeman mc. Sci Data. 2024 Feb 12;11(1):191. doi: 10.1038/s41597-023-02832-6. Sci Data. 2024. PMID: 38346970 Free PMC article.
114 results