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Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders.
Lawrence ES, Gu W, Bohlender RJ, Anza-Ramirez C, Cole AM, Yu JJ, Hu H, Heinrich EC, O'Brien KA, Vasquez CA, Cowan QT, Bruck PT, Mercader K, Alotaibi M, Long T, Hall JE, Moya EA, Bauk MA, Reeves JJ, Kong MC, Salem RM, Vizcardo-Galindo G, Macarlupu JL, Figueroa-Mujíca R, Bermudez D, Corante N, Gaio E, Fox KP, Salomaa V, Havulinna AS, Murray AJ, Malhotra A, Powel FL, Jain M, Komor AC, Cavalleri GL, Huff CD, Villafuerte FC, Simonson TS. Lawrence ES, et al. Among authors: cavalleri gl. Sci Adv. 2024 Feb 9;10(6):eadj5661. doi: 10.1126/sciadv.adj5661. Epub 2024 Feb 9. Sci Adv. 2024. PMID: 38335297 Free PMC article.
Evolutionary history of Tibetans inferred from whole-genome sequencing.
Hu H, Petousi N, Glusman G, Yu Y, Bohlender R, Tashi T, Downie JM, Roach JC, Cole AM, Lorenzo FR, Rogers AR, Brunkow ME, Cavalleri G, Hood L, Alpatty SM, Prchal JT, Jorde LB, Robbins PA, Simonson TS, Huff CD. Hu H, et al. PLoS Genet. 2017 Apr 27;13(4):e1006675. doi: 10.1371/journal.pgen.1006675. eCollection 2017 Apr. PLoS Genet. 2017. PMID: 28448578 Free PMC article.
Genetic structure in the Sherpa and neighboring Nepalese populations.
Cole AM, Cox S, Jeong C, Petousi N, Aryal DR, Droma Y, Hanaoka M, Ota M, Kobayashi N, Gasparini P, Montgomery H, Robbins P, Di Rienzo A, Cavalleri GL. Cole AM, et al. Among authors: cavalleri gl. BMC Genomics. 2017 Jan 19;18(1):102. doi: 10.1186/s12864-016-3469-5. BMC Genomics. 2017. PMID: 28103797 Free PMC article.
Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders.
Beall CM, Cavalleri GL, Deng L, Elston RC, Gao Y, Knight J, Li C, Li JC, Liang Y, McCormack M, Montgomery HE, Pan H, Robbins PA, Shianna KV, Tam SC, Tsering N, Veeramah KR, Wang W, Wangdui P, Weale ME, Xu Y, Xu Z, Yang L, Zaman MJ, Zeng C, Zhang L, Zhang X, Zhaxi P, Zheng YT. Beall CM, et al. Among authors: cavalleri gl. Proc Natl Acad Sci U S A. 2010 Jun 22;107(25):11459-64. doi: 10.1073/pnas.1002443107. Epub 2010 Jun 7. Proc Natl Acad Sci U S A. 2010. PMID: 20534544 Free PMC article.
Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study.
Larivière S, Rodríguez-Cruces R, Royer J, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda C, Bonilha L, Gleichgerrcht E, Focke NK, Domin M, von Podewills F, Langner S, Rummel C, Wiest R, Martin P, Kotikalapudi R, O'Brien TJ, Sinclair B, Vivash L, Desmond PM, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kälviäinen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Lenge M, Guerrini R, Bartolini E, Hamandi K, Foley S, Weber B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Severino M, Striano P, Tortora D, Hatton SN, Vos SB, Duncan JS, Whelan CD, Thompson PM, Sisodiya SM, Bernasconi A, Labate A, McDonald CR, Bernasconi N, Bernhardt BC. Larivière S, et al. Among authors: cavalleri gl. Sci Adv. 2020 Nov 18;6(47):eabc6457. doi: 10.1126/sciadv.abc6457. Print 2020 Nov. Sci Adv. 2020. PMID: 33208365 Free PMC article.
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy.
Cavalleri GL, Walley NM, Soranzo N, Mulley J, Doherty CP, Kapoor A, Depondt C, Lynch JM, Scheffer IE, Heils A, Gehrmann A, Kinirons P, Gandhi S, Satishchandra P, Wood NW, Anand A, Sander T, Berkovic SF, Delanty N, Goldstein DB, Sisodiya SM. Cavalleri GL, et al. Epilepsia. 2007 Apr;48(4):706-12. doi: 10.1111/j.1528-1167.2007.00977.x. Epilepsia. 2007. PMID: 17437413 Free article.
154 results