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72 results

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From karyotypes to precision genomics in 9p deletion and duplication syndromes.
Sams EI, Ng JK, Tate V, Claire Hou YC, Cao Y, Antonacci-Fulton L, Belhassan K, Neidich J, Mitra RD, Cole FS, Dickson P, Milbrandt J, Turner TN. Sams EI, et al. Among authors: turner tn. HGG Adv. 2021 Dec 24;3(1):100081. doi: 10.1016/j.xhgg.2021.100081. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047865 Free PMC article.
Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long-read sequencing.
Mehinovic E, Gray T, Campbell M, Ekholm J, Wenger A, Rowell W, Grudo A, Grimwood J, Korlach J, Gurnett C, Constantino JN, Turner TN. Mehinovic E, et al. Among authors: turner tn. Am J Med Genet A. 2022 Jul;188(7):2071-2081. doi: 10.1002/ajmg.a.62743. Epub 2022 Apr 2. Am J Med Genet A. 2022. PMID: 35366058 Free PMC article.
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project.
Ng JK, Vats P, Fritz-Waters E, Sarkar S, Sams EI, Padhi EM, Payne ZL, Leonard S, West MA, Prince C, Trani L, Jansen M, Vacek G, Samadi M, Harkins TT, Pohl C, Turner TN. Ng JK, et al. Among authors: turner tn. Hum Mutat. 2022 Dec;43(12):1979-1993. doi: 10.1002/humu.24455. Epub 2022 Sep 10. Hum Mutat. 2022. PMID: 36054329 Free PMC article.
Mapping and characterization of structural variation in 17,795 human genomes.
Abel HJ, Larson DE, Regier AA, Chiang C, Das I, Kanchi KL, Layer RM, Neale BM, Salerno WJ, Reeves C, Buyske S; NHGRI Centers for Common Disease Genomics; Matise TC, Muzny DM, Zody MC, Lander ES, Dutcher SK, Stitziel NO, Hall IM. Abel HJ, et al. Nature. 2020 Jul;583(7814):83-89. doi: 10.1038/s41586-020-2371-0. Epub 2020 May 27. Nature. 2020. PMID: 32460305 Free PMC article.
Gene expansions contributing to human brain evolution.
Soto DC, Uribe-Salazar JM, Kaya G, Valdarrago R, Sekar A, Haghani NK, Hino K, La GN, Mariano NAF, Ingamells C, Baraban AE, Turner TN, Green ED, Simó S, Quon G, Andrés AM, Dennis MY. Soto DC, et al. Among authors: turner tn. bioRxiv [Preprint]. 2024 Sep 26:2024.09.26.615256. doi: 10.1101/2024.09.26.615256. bioRxiv. 2024. PMID: 39386494 Free PMC article. Preprint.
72 results