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From karyotypes to precision genomics in 9p deletion and duplication syndromes.
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.
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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: sams ei.
Bioinformatics. 2021 Nov 5;37(21):3920-3922. doi: 10.1093/bioinformatics/btab684.
Bioinformatics. 2021.
PMID: 34601580
Free PMC article.
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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: sams ei.
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.
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