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Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing.
PLoS One. 2016 Jun 24;11(6):e0158340. doi: 10.1371/journal.pone.0158340. eCollection 2016.
PLoS One. 2016.
PMID: 27341568
Free PMC article.
Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.
Yoon SR, Choi SK, Eboreime J, Gelb BD, Calabrese P, Arnheim N.
Yoon SR, et al. Among authors: eboreime j.
Am J Hum Genet. 2013 Jun 6;92(6):917-26. doi: 10.1016/j.ajhg.2013.05.001. Epub 2013 May 30.
Am J Hum Genet. 2013.
PMID: 23726368
Free PMC article.
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Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
Eboreime J, Choi SK, Yoon SR, Sadybekov A, Katritch V, Calabrese P, Arnheim N.
Eboreime J, et al.
Hum Mutat. 2022 Dec;43(12):2205-2221. doi: 10.1002/humu.24493. Epub 2022 Nov 24.
Hum Mutat. 2022.
PMID: 36349709
Free PMC article.
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Identification and characterization of dynein genes in Tetrahymena.
Wilkes DE, Bennardo N, Chan CW, Chang YL, Corpuz EO, DuMond J, Eboreime JA, Erickson J, Hetzel J, Heyer EE, Hubenschmidt MJ, Kniazeva E, Kuhn H, Lum M, Sand A, Schep A, Sergeeva O, Supab N, Townsend CR, Ryswyk LV, Watson HE, Wiedeman AE, Rajagopalan V, Asai DJ.
Wilkes DE, et al. Among authors: eboreime ja.
Methods Cell Biol. 2009;92:11-30. doi: 10.1016/S0091-679X(08)92002-1. Epub 2009 Nov 21.
Methods Cell Biol. 2009.
PMID: 20409796
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