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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.
Precise breakpoint detection in a patient with 9p- syndrome.
Ng J, Sams E, Baldridge D, Kremitzki M, Wegner DJ, Lindsay T, Fulton R, Cole FS, Turner TN. Ng J, et al. Among authors: turner tn. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005348. doi: 10.1101/mcs.a005348. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532883 Free PMC article.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K, Audebert-Bellanger S, Le Marechal C, Férec C, Efthymiou S, Rahman F, Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G, Abhyankar A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E, Stong N, Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA, Zody MC, Turner TN. Padhi EM, et al. Among authors: turner tn. Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3. Hum Genomics. 2021. PMID: 34256850 Free PMC article.
ACES: Analysis of Conservation with an Extensive list of Species.
Padhi EM, Ng JK, Mehinovic E, Sams EI, Turner TN. Padhi EM, et al. Among authors: turner tn. Bioinformatics. 2021 Nov 5;37(21):3920-3922. doi: 10.1093/bioinformatics/btab684. Bioinformatics. 2021. PMID: 34601580 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.
70 results