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Page 1
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. Thorpe E, et al. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006. Epub 2024 Jun 5. Am J Hum Genet. 2024. PMID: 38843839 Free PMC article.
High-depth African genomes inform human migration and health.
Choudhury A, Aron S, Botigué LR, Sengupta D, Botha G, Bensellak T, Wells G, Kumuthini J, Shriner D, Fakim YJ, Ghoorah AW, Dareng E, Odia T, Falola O, Adebiyi E, Hazelhurst S, Mazandu G, Nyangiri OA, Mbiyavanga M, Benkahla A, Kassim SK, Mulder N, Adebamowo SN, Chimusa ER, Muzny D, Metcalf G, Gibbs RA; TrypanoGEN Research Group; Rotimi C, Ramsay M; H3Africa Consortium; Adeyemo AA, Lombard Z, Hanchard NA. Choudhury A, et al. Nature. 2020 Oct;586(7831):741-748. doi: 10.1038/s41586-020-2859-7. Epub 2020 Oct 28. Nature. 2020. PMID: 33116287 Free PMC article.
STAC3 disorder: a common cause of congenital hypotonia in Southern African patients.
Essop F, Dillon B, Mhlongo F, Bhengu L, Naicker T, Lambie L, Smit L, Fieggen K, Lochan A, Dawson J, Mpangase P, Hauptfleisch M, Scher G, Tabane O, Immelman M, Urban M, Krause A. Essop F, et al. Eur J Hum Genet. 2025 Jan;33(1):14-23. doi: 10.1038/s41431-024-01644-5. Epub 2024 Jun 1. Eur J Hum Genet. 2025. PMID: 38824262 Free PMC article.
An assessment of the genomic structural variation landscape in Sub-Saharan African populations.
Wiener E, Cottino L, Botha G, Nyangiri O, Noyes H, McLeod A, Jakubosky D, Adebamowo C, Awadalla P, Landouré G, Matshaba M, Matovu E, Ramsay M, Simo G, Simuunza M, Tiemessen C, Wonkam A, Sahibdeen V, Krause A, Lombard Z, Hazelhurst S; as members of the H3Africa Consortium. Wiener E, et al. Res Sq [Preprint]. 2024 Jul 8:rs.3.rs-4485126. doi: 10.21203/rs.3.rs-4485126/v1. Res Sq. 2024. PMID: 39041024 Free PMC article. Preprint.