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A mouse model of Proteus syndrome.
Hum Mol Genet. 2019 Sep 1;28(17):2920-2936. doi: 10.1093/hmg/ddz116.
Hum Mol Genet. 2019.
PMID: 31194862
Free PMC article.
Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.
Keppler-Noreuil KM, Burton-Akright J, Lindhurst MJ, Shwetar J, Sapp JC, Darling T, Biesecker LG.
Keppler-Noreuil KM, et al.
Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4):a004036. doi: 10.1101/mcs.a004036. Print 2019 Aug.
Cold Spring Harb Mol Case Stud. 2019.
PMID: 31371346
Free PMC article.
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Ubiquitous expression of Akt1 p.(E17K) results in vascular defects and embryonic lethality in mice.
Lindhurst MJ, Li W, Laughner N, Shwetar JJ, Kondolf HC, Ma X, Mukouyama YS, Biesecker LG.
Lindhurst MJ, et al. Among authors: shwetar jj.
Hum Mol Genet. 2020 Dec 18;29(20):3350-3360. doi: 10.1093/hmg/ddaa216.
Hum Mol Genet. 2020.
PMID: 33030203
Free PMC article.
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Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach.
Dudley JN, Hong CS, Hawari MA, Shwetar J, Sapp JC, Lack J, Shiferaw H; NISC Comparative Sequencing Program; Johnston JJ, Biesecker LG.
Dudley JN, et al. Among authors: shwetar j.
BMC Bioinformatics. 2021 Apr 8;22(1):181. doi: 10.1186/s12859-021-04090-y.
BMC Bioinformatics. 2021.
PMID: 33832433
Free PMC article.
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