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Page 1
Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB. Mirzaa G, et al. JCI Insight. 2016 Jun 16;1(9):e87623. doi: 10.1172/jci.insight.87623. JCI Insight. 2016. PMID: 27631024 Free PMC article.
Medical Management of Vascular Anomalies.
Padia R, Bly R, Bull C, Geddis AE, Perkins J. Padia R, et al. Curr Treat Options Pediatr. 2018 Jun;4(2):221-236. doi: 10.1007/s40746-018-0130-3. Epub 2018 Apr 27. Curr Treat Options Pediatr. 2018. PMID: 30505648 Free PMC article.
Metastatic cellular neurothekeoma in childhood.
Zenner K, Dahl J, Deutsch G, Rudzinski E, Bly R, Perkins JA. Zenner K, et al. Int J Pediatr Otorhinolaryngol. 2019 Apr;119:86-88. doi: 10.1016/j.ijporl.2019.01.027. Epub 2019 Jan 22. Int J Pediatr Otorhinolaryngol. 2019. PMID: 30685663 Free PMC article. No abstract available.
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.
Wenger TL, Ganti S, Bull C, Lutsky E, Bennett JT, Zenner K, Jensen DM, Dmyterko V, Mercan E, Shivaram GM, Friedman SD, Bindschadler M, Drusin M, Perkins JN, Kong A, Bly RA, Dahl JP, Bonilla-Velez J, Perkins JA. Wenger TL, et al. Genet Med. 2022 Nov;24(11):2318-2328. doi: 10.1016/j.gim.2022.07.026. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066547 Free PMC article.
Facial Nerve Branching Patterns Vary With Vascular Anomalies.
Adidharma L, Bly RA, Theeuwen HA, Holdefer RN, Slimp J, Kinney GA, Martinez V, Whitlock KB, Perkins JA. Adidharma L, et al. Laryngoscope. 2020 Nov;130(11):2708-2713. doi: 10.1002/lary.28500. Epub 2020 Jan 11. Laryngoscope. 2020. PMID: 31925962
Upregulated MicroRNA-21 Drives the Proliferation of Lymphatic Malformation Endothelial Cells by Inhibiting PDCD4.
Sun RW, Zhang H, Mehdi SJ, Richter GT, Bowman HH, Sifford J, Smith C, Burnett AK, Layman A, Washam CL, Byrum SD, Bennett JT, Jensen DM, Dmyterko V, Perkins JA, Shawber CJ, Wu JK, Strub GM. Sun RW, et al. J Invest Dermatol. 2023 Oct;143(10):2085-2089.e1. doi: 10.1016/j.jid.2023.04.007. Epub 2023 Apr 22. J Invest Dermatol. 2023. PMID: 37088278 Free PMC article. No abstract available.
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
Li D, Wenger TL, Seiler C, March ME, Gutierrez-Uzquiza A, Kao C, Bhoj E, Tian L, Rosenbach M, Liu Y, Robinson N, Behr M, Chiavacci R, Hou C, Wang T, Bakay M, Pellegrino da Silva R, Perkins JA, Sleiman P, Levine MA, Hicks PJ, Itkin M, Dori Y, Hakonarson H. Li D, et al. Hum Mol Genet. 2018 Sep 15;27(18):3233-3245. doi: 10.1093/hmg/ddy218. Hum Mol Genet. 2018. PMID: 29905864 Free PMC article.
24 results