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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. Among authors: paschal cr. 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.
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. Among authors: paschal cr. 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.
Implementation and Clinical Utility of an Integrated Academic-Community Regional Molecular Tumor Board.
Burkard ME, Deming DA, Parsons BM, Kenny PA, Schuh MR, Leal T, Uboha N, Lang JM, Thompson MA, Warren R, Bauman J, Mably MS, Laffin J, Paschal CR, Lager AM, Lee K, Matkowskyj KA, Buehler DG, Rehrauer WM, Kolesar J. Burkard ME, et al. Among authors: paschal cr. JCO Precis Oncol. 2017 Jul 5;1:PO.16.00022. doi: 10.1200/PO.16.00022. eCollection 2017. JCO Precis Oncol. 2017. PMID: 32913980 Free PMC article.