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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: nelson z. 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.
Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in PIK3CA.
Sheppard SE, Sanders VR, Srinivasan A, Finn LS, Adams D, Elton A, Amlie-Lefond C, Nelson Z, Dmyterko V, Jensen D, Zenner K, Perkins J, Bennett JT. Sheppard SE, et al. Among authors: nelson z. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006147. doi: 10.1101/mcs.a006147. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34887309 Free PMC article.
Study protocol for a randomized trial of bridge: Person-centered collaborative care for serious mental illness and cancer.
Irwin KE, Callaway CA, Corveleyn AE, Pappano CR, Barry MJ, Tiersma KM, Nelson ZE, Fields LE, Pirl WF, Greer JA, Temel JS, Ryan DP, Nierenberg AA, Park ER. Irwin KE, et al. Among authors: nelson ze. Contemp Clin Trials. 2022 Dec;123:106975. doi: 10.1016/j.cct.2022.106975. Epub 2022 Oct 25. Contemp Clin Trials. 2022. PMID: 36307008 Free PMC article.
Changing Face of Invasive Diagnostic Testing in the Era of Cell-Free DNA.
Al-Ibraheemi Z, Rosenn B, Porat N, Taylor D, Kalberer M, Nelson Z. Al-Ibraheemi Z, et al. Among authors: nelson z. Am J Perinatol. 2017 Sep;34(11):1142-1147. doi: 10.1055/s-0037-1604162. Epub 2017 Jul 17. Am J Perinatol. 2017. PMID: 28718180 No abstract available.