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2015 1
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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.
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.
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.
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
Somatic activating BRAF variants cause isolated lymphatic malformations.
Zenner K, Jensen DM, Dmyterko V, Shivaram GM, Myers CT, Paschal CR, Rudzinski ER, Pham MM, Cheng VC, Manning SC, Bly RA, Ganti S, Perkins JA, Bennett JT. Zenner K, et al. HGG Adv. 2022 Mar 15;3(2):100101. doi: 10.1016/j.xhgg.2022.100101. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35373151 Free PMC article.
25 results