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Page 1
A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl.
Cissé L, Yalcouyé A, Touré KO, Coulibaly Y, Maiga AB, Bamba S, Diallo D, Diarra S, Taméga A, Traoré O, Kotioumbé M, Sangaré MA, Ba HO, Simaga A, Koné FI, Samassekou O, Koné A, Guinto CO, Landouré G; H3Africa consortium. Cissé L, et al. Among authors: samassekou o. Clin Case Rep. 2024 Feb 26;12(2):e8551. doi: 10.1002/ccr3.8551. eCollection 2024 Feb. Clin Case Rep. 2024. PMID: 38415192 Free PMC article.
Friedreich ataxia in a family from Mali, West Africa/Friedreich ataxia in a Malian family.
Cissé CAK, Cissé L, Ba HO, Samassékou O, Simaga A, Taméga A, Diarra S, Diallo SH, Coulibaly T, Diallo S, Yalcouyé A, Maiga AB, Keita M, Fischbeck KH, Traoré SF, Guinto CO, Landouré G; from the H3Africa Consortium. Cissé CAK, et al. Among authors: samassekou o. Clin Case Rep. 2021 Mar 24;9(5):e04065. doi: 10.1002/ccr3.4065. eCollection 2021 May. Clin Case Rep. 2021. PMID: 34084490 Free PMC article.
Author Correction: 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. 2021 Apr;592(7856):E26. doi: 10.1038/s41586-021-03286-9. Nature. 2021. PMID: 33846614 Free PMC article. No abstract available.
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.
A novel variant in the spatacsin gene causing SPG11 in a Malian family.
Landouré G, Dembélé K, Diarra S, Cissé L, Samassékou O, Bocoum A, Yalcouyé A, Traoré M, Fischbeck KH, Guinto CO; H3Africa Consortium. Landouré G, et al. Among authors: samassekou o. J Neurol Sci. 2020 Apr 15;411:116675. doi: 10.1016/j.jns.2020.116675. Epub 2020 Jan 7. J Neurol Sci. 2020. PMID: 32007754 Free PMC article. No abstract available.
A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease.
Yalcouyé A, Diallo SH, Coulibaly T, Cissé L, Diallo S, Samassékou O, Diarra S, Coulibaly D, Keita M, Guinto CO, Fischbeck K, Landouré G; H3Africa Consortium. Yalcouyé A, et al. Among authors: samassekou o. Mol Genet Genomic Med. 2019 Jul;7(7):e00782. doi: 10.1002/mgg3.782. Epub 2019 Jun 7. Mol Genet Genomic Med. 2019. PMID: 31173493 Free PMC article.
Hereditary spastic paraplegia type 35 in a family from Mali.
Landouré G, Dembélé K, Cissé L, Samassékou O, Diarra S, Bocoum A, Dembélé ME, Fischbeck KH, Guinto CO; from The H3Africa Consortium. Landouré G, et al. Among authors: samassekou o. Am J Med Genet A. 2019 Jul;179(7):1122-1125. doi: 10.1002/ajmg.a.61179. Epub 2019 May 14. Am J Med Genet A. 2019. PMID: 31087769 Free PMC article.
22 results