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NAA10 polyadenylation signal variants cause syndromic microphthalmia.
J Med Genet. 2019 Jul;56(7):444-452. doi: 10.1136/jmedgenet-2018-105836. Epub 2019 Mar 6.
J Med Genet. 2019.
PMID: 30842225
Free PMC article.
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.
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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Erratum: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
Koutlas IG, Anbinder AL, Alshagroud R, Rodrigues Cavalcante AS, Al Kindi M, Crenshaw MM, Sapp JC, Kondolf H, Lindhurst MJ, Dudley JN, Johnston JJ, Ryan E, Rafferty K, Ganguly A, Biesecker LG.
Koutlas IG, et al. Among authors: dudley jn.
HGG Adv. 2021 Oct 26;3(1):100062. doi: 10.1016/j.xhgg.2021.100062. eCollection 2022 Jan 13.
HGG Adv. 2021.
PMID: 35051255
Free PMC article.
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Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Cottrell CE, Bender NR, Zimmermann MT, Heusel JW, Corliss M, Evenson MJ, Magrini V, Corsmeier DJ, Avenarius M, Dudley JN, Johnston JJ, Lindhurst MJ, Vigh-Conrad K, Davies OMT, Coughlin CC, Frieden IJ, Tollefson M, Zaenglein AL, Ciliberto H, Tosi LL, Semple RK, Biesecker LG, Drolet BA.
Cottrell CE, et al. Among authors: dudley jn.
Genet Med. 2021 Oct;23(10):1882-1888. doi: 10.1038/s41436-021-01211-z. Epub 2021 May 26.
Genet Med. 2021.
PMID: 34040190
Free PMC article.
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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum.
Koutlas IG, Anbinder AL, Alshagroud R, Rodrigues Cavalcante AS, Al Kindi M, Crenshaw MM, Sapp JC, Kondolf H, Lindhurst MJ, Dudley JN, Johnston JJ, Ryan E, Rafferty K, Ganguly A, Biesecker LG.
Koutlas IG, et al. Among authors: dudley jn.
HGG Adv. 2020 Aug 14;1(1):100009. doi: 10.1016/j.xhgg.2020.100009. eCollection 2020 Oct 22.
HGG Adv. 2020.
PMID: 35047831
Free PMC article.
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