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Impact of RNA testing on cardiac variant interpretation and patient management.
Jankelson L, Zimmermann H, Fowler S, Borneman L, Conner B, Wu S, Karam R, Chinitz L, Cerrone M. Jankelson L, et al. Among authors: wu s. HeartRhythm Case Rep. 2019 May 8;5(8):402-406. doi: 10.1016/j.hrcr.2019.04.008. eCollection 2019 Aug. HeartRhythm Case Rep. 2019. PMID: 31453089 Free PMC article. No abstract available.
Reticular dysgenesis caused by an intronic pathogenic variant in AK2.
Ichikawa S, Prockop S, Cunningham-Rundles C, Sifers T, Conner BR, Wu S, Karam R, Walsh MF, Fiala E. Ichikawa S, et al. Among authors: wu s. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005017. doi: 10.1101/mcs.a005017. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532877 Free PMC article.
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS. Kimonis V, et al. Among authors: wu s. J Med Genet. 2021 May;58(5):314-325. doi: 10.1136/jmedgenet-2020-106846. Epub 2020 Jun 9. J Med Genet. 2021. PMID: 32518176 Free article. Review.
[No title available]
[No authors listed] [No authors listed] PMID: 33594121
Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay.
Farber-Katz S, Hsuan V, Wu S, Landrith T, Vuong H, Xu D, Li B, Hoo J, Lam S, Nashed S, Toppmeyer D, Gray P, Haynes G, Lu HM, Elliott A, Tippin Davis B, Karam R. Farber-Katz S, et al. Among authors: wu s. Front Oncol. 2018 Jul 27;8:286. doi: 10.3389/fonc.2018.00286. eCollection 2018. Front Oncol. 2018. PMID: 30101128 Free PMC article.
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
Landrith T, Li B, Cass AA, Conner BR, LaDuca H, McKenna DB, Maxwell KN, Domchek S, Morman NA, Heinlen C, Wham D, Koptiuch C, Vagher J, Rivera R, Bunnell A, Patel G, Geurts JL, Depas MM, Gaonkar S, Pirzadeh-Miller S, Krukenberg R, Seidel M, Pilarski R, Farmer M, Pyrtel K, Milliron K, Lee J, Hoodfar E, Nathan D, Ganzak AC, Wu S, Vuong H, Xu D, Arulmoli A, Parra M, Hoang L, Molparia B, Fennessy M, Fox S, Charpentier S, Burdette J, Pesaran T, Profato J, Smith B, Haynes G, Dalton E, Crandall JR, Baxter R, Lu HM, Tippin-Davis B, Elliott A, Chao E, Karam R. Landrith T, et al. Among authors: wu s. NPJ Precis Oncol. 2020 Feb 24;4:4. doi: 10.1038/s41698-020-0109-y. eCollection 2020. NPJ Precis Oncol. 2020. PMID: 32133419 Free PMC article.
Targeting cellular heterogeneity with CXCR2 blockade for the treatment of therapy-resistant prostate cancer.
Li Y, He Y, Butler W, Xu L, Chang Y, Lei K, Zhang H, Zhou Y, Gao AC, Zhang Q, Taylor DG, Cheng D, Farber-Katz S, Karam R, Landrith T, Li B, Wu S, Hsuan V, Yang Q, Hu H, Chen X, Flowers M, McCall SJ, Lee JK, Smith BA, Park JW, Goldstein AS, Witte ON, Wang Q, Rettig MB, Armstrong AJ, Cheng Q, Huang J. Li Y, et al. Among authors: wu s. Sci Transl Med. 2019 Dec 4;11(521):eaax0428. doi: 10.1126/scitranslmed.aax0428. Sci Transl Med. 2019. PMID: 31801883 Free PMC article.
Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report.
Lopez-Perolio I, Leman R, Behar R, Lattimore V, Pearson JF, Castéra L, Martins A, Vaur D, Goardon N, Davy G, Garre P, García-Barberán V, Llovet P, Pérez-Segura P, Díaz-Rubio E, Caldés T, Hruska KS, Hsuan V, Wu S, Pesaran T, Karam R, Vallon-Christersson J, Borg A; kConFab Investigators; Valenzuela-Palomo A, Velasco EA, Southey M, Vreeswijk MPG, Devilee P, Kvist A, Spurdle AB, Walker LC, Krieger S, de la Hoya M. Lopez-Perolio I, et al. Among authors: wu s. J Med Genet. 2019 Jul;56(7):453-460. doi: 10.1136/jmedgenet-2018-105834. Epub 2019 Mar 19. J Med Genet. 2019. PMID: 30890586 Free PMC article.
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