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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: ng jk. 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. 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: ng jk. 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: ng jk. Bioinformatics. 2021 Nov 5;37(21):3920-3922. doi: 10.1093/bioinformatics/btab684. Bioinformatics. 2021. PMID: 34601580 Free PMC article.
230 results