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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. Among authors: hanchard na. 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.
Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.
Gonzaga-Jauregui C, Mir S, Penney S, Jhangiani S, Midgen C, Finegold M, Muzny DM, Wang M, Bacino CA, Gibbs RA, Lupski JR, Kellermayer R, Hanchard NA. Gonzaga-Jauregui C, et al. Among authors: hanchard na. J Pediatr Gastroenterol Nutr. 2014 Jul;59(1):17-21. doi: 10.1097/MPG.0000000000000363. J Pediatr Gastroenterol Nutr. 2014. PMID: 24614124 Free PMC article.
Research capacity. Enabling the genomic revolution in Africa.
H3Africa Consortium; Rotimi C, Abayomi A, Abimiku A, Adabayeri VM, Adebamowo C, Adebiyi E, Ademola AD, Adeyemo A, Adu D, Affolabi D, Agongo G, Ajayi S, Akarolo-Anthony S, Akinyemi R, Akpalu A, Alberts M, Alonso Betancourt O, Alzohairy AM, Ameni G, Amodu O, Anabwani G, Andersen K, Arogundade F, Arulogun O, Asogun D, Bakare R, Balde N, Baniecki ML, Beiswanger C, Benkahla A, Bethke L, Boehnke M, Boima V, Brandful J, Brooks AI, Brosius FC, Brown C, Bucheton B, Burke DT, Burnett BG, Carrington-Lawrence S, Carstens N, Chisi J, Christoffels A, Cooper R, Cordell H, Crowther N, Croxton T, de Vries J, Derr L, Donkor P, Doumbia S, Duncanson A, Ekem I, El Sayed A, Engel ME, Enyaru JC, Everett D, Fadlelmola FM, Fakunle E, Fischbeck KH, Fischer A, Folarin O, Gamieldien J, Garry RF, Gaseitsiwe S, Gbadegesin R, Ghansah A, Giovanni M, Goesbeck P, Gomez-Olive FX, Grant DS, Grewal R, Guyer M, Hanchard NA, Happi CT, Hazelhurst S, Hennig BJ, Hertz- C, Fowler, Hide W, Hilderbrandt F, Hugo-Hamman C, Ibrahim ME, James R, Jaufeerally-Fakim Y, Jenkins C, Jentsch U, Jiang PP, Joloba M, Jongeneel V, Joubert F, Kader M, Kahn K, Kaleebu P, Kapiga SH, Kassim SK, Kasvosve I, Kayondo J, Keavney B, Kekitiin… See abstract for full author list ➔ H3Africa Consortium, et al. Among authors: hanchard na. Science. 2014 Jun 20;344(6190):1346-8. doi: 10.1126/science.1251546. Science. 2014. PMID: 24948725 Free PMC article. No abstract available.
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.
Polfus LM, Boerwinkle E, Gibbs RA, Metcalf G, Muzny D, Veeraraghavan N, Grove M, Shete S, Wallace S, Milewicz D, Hanchard N, Lupski JR, Hashmi SS, Gupta-Malhotra M. Polfus LM, et al. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001255. doi: 10.1101/mcs.a001255. Cold Spring Harb Mol Case Stud. 2016. PMID: 27900368 Free PMC article.
The collaborative African genomics network training program: a trainee perspective on training the next generation of African scientists.
Mlotshwa BC, Mwesigwa S, Mboowa G, Williams L, Retshabile G, Kekitiinwa A, Wayengera M, Kyobe S, Brown CW, Hanchard NA, Mardon G, Joloba M, Anabwani G, Mpoloka SW. Mlotshwa BC, et al. Among authors: hanchard na. Genet Med. 2017 Jul;19(7):826-833. doi: 10.1038/gim.2016.177. Epub 2017 Apr 6. Genet Med. 2017. PMID: 28383545 Free PMC article.
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns.
Li AH, Hanchard NA, Furthner D, Fernbach S, Azamian M, Nicosia A, Rosenfeld J, Muzny D, D'Alessandro LCA, Morris S, Jhangiani S, Parekh DR, Franklin WJ, Lewin M, Towbin JA, Penny DJ, Fraser CD, Martin JF, Eng C, Lupski JR, Gibbs RA, Boerwinkle E, Belmont JW. Li AH, et al. Among authors: hanchard na. Genome Med. 2017 Oct 31;9(1):95. doi: 10.1186/s13073-017-0482-5. Genome Med. 2017. PMID: 29089047 Free PMC article.
Whole-Exome Sequencing Reveals Uncaptured Variation and Distinct Ancestry in the Southern African Population of Botswana.
Retshabile G, Mlotshwa BC, Williams L, Mwesigwa S, Mboowa G, Huang Z, Rustagi N, Swaminathan S, Katagirya E, Kyobe S, Wayengera M, Kisitu GP, Kateete DP, Wampande EM, Maplanka K, Kasvosve I, Pettitt ED, Matshaba M, Nsangi B, Marape M, Tsimako-Johnstone M, Brown CW, Yu F, Kekitiinwa A, Joloba M, Mpoloka SW, Mardon G, Anabwani G, Hanchard NA; Collaborative African Genomics Network (CAfGEN) of the H3Africa Consortium. Retshabile G, et al. Among authors: hanchard na. Am J Hum Genet. 2018 May 3;102(5):731-743. doi: 10.1016/j.ajhg.2018.03.010. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706352 Free PMC article.
144 results