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A phased SNP-based classification of sickle cell anemia HBB haplotypes.
Shaikho EM, Farrell JJ, Alsultan A, Qutub H, Al-Ali AK, Figueiredo MS, Chui DHK, Farrer LA, Murphy GJ, Mostoslavsky G, Sebastiani P, Steinberg MH. Shaikho EM, et al. BMC Genomics. 2017 Aug 11;18(1):608. doi: 10.1186/s12864-017-4013-y. BMC Genomics. 2017. PMID: 28800727 Free PMC article.
A Comprehensive, Ethnically Diverse Library of Sickle Cell Disease-Specific Induced Pluripotent Stem Cells.
Park S, Gianotti-Sommer A, Molina-Estevez FJ, Vanuytsel K, Skvir N, Leung A, Rozelle SS, Shaikho EM, Weir I, Jiang Z, Luo HY, Chui DHK, Figueiredo MS, Alsultan A, Al-Ali A, Sebastiani P, Steinberg MH, Mostoslavsky G, Murphy GJ. Park S, et al. Among authors: shaikho em. Stem Cell Reports. 2017 Apr 11;8(4):1076-1085. doi: 10.1016/j.stemcr.2016.12.017. Epub 2017 Jan 19. Stem Cell Reports. 2017. PMID: 28111279 Free PMC article.
Variants of ZBTB7A (LRF) and its β-globin gene cluster binding motifs in sickle cell anemia.
Shaikho EM, Habara AH, Alsultan A, Al-Rubaish AM, Al-Muhanna F, Naserullah Z, Alsuliman A, Qutub HO, Patra PK, Sebastiani P, Baltrusaitis K, Farrell JJ, Jiang Z, Luo HY, Chui DH, Al-Ali AK, Steinberg MH. Shaikho EM, et al. Blood Cells Mol Dis. 2016 Jul;59:49-51. doi: 10.1016/j.bcmd.2016.04.001. Epub 2016 Apr 13. Blood Cells Mol Dis. 2016. PMID: 27282567 Free PMC article. No abstract available.
BCL2L1 is associated with γ-globin gene expression.
Dai Y, Shaikho EM, Perez J, Wilson CA, Liu LY, White MR, Farrell JJ, Chui DHK, Sebastiani P, Steinberg MH. Dai Y, et al. Among authors: shaikho em. Blood Adv. 2019 Oct 22;3(20):2995-3001. doi: 10.1182/bloodadvances.2019032243. Blood Adv. 2019. PMID: 31648320 Free PMC article.
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.