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Page 1
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.
Folland C, Ganesh V, Weisburd B, McLean C, Kornberg AJ, O'Donnell-Luria A, Rehm HL, Stevanovski I, Chintalaphani SR, Kennedy P, Deveson IW, Ravenscroft G. Folland C, et al. Among authors: weisburd b. Neurol Genet. 2023 Mar 14;9(2):e200064. doi: 10.1212/NXG.0000000000200064. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090938 Free PMC article.
Decoding human cytomegalovirus.
Stern-Ginossar N, Weisburd B, Michalski A, Le VT, Hein MY, Huang SX, Ma M, Shen B, Qian SB, Hengel H, Mann M, Ingolia NT, Weissman JS. Stern-Ginossar N, et al. Among authors: weisburd b. Science. 2012 Nov 23;338(6110):1088-93. doi: 10.1126/science.1227919. Science. 2012. PMID: 23180859 Free PMC article.
KSHV 2.0: a comprehensive annotation of the Kaposi's sarcoma-associated herpesvirus genome using next-generation sequencing reveals novel genomic and functional features.
Arias C, Weisburd B, Stern-Ginossar N, Mercier A, Madrid AS, Bellare P, Holdorf M, Weissman JS, Ganem D. Arias C, et al. Among authors: weisburd b. PLoS Pathog. 2014 Jan;10(1):e1003847. doi: 10.1371/journal.ppat.1003847. Epub 2014 Jan 16. PLoS Pathog. 2014. PMID: 24453964 Free PMC article.
Vemurafenib cooperates with HPV to promote initiation of cutaneous tumors.
Holderfield M, Lorenzana E, Weisburd B, Lomovasky L, Boussemart L, Lacroix L, Tomasic G, Favre M, Vagner S, Robert C, Ghoddusi M, Daniel D, Pryer N, McCormick F, Stuart D. Holderfield M, et al. Among authors: weisburd b. Cancer Res. 2014 Apr 15;74(8):2238-45. doi: 10.1158/0008-5472.CAN-13-1065-T. Epub 2014 Feb 12. Cancer Res. 2014. PMID: 24523442
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Carlston CM, O'Donnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP; Exome Aggregation Consortium; Tvrdik T, MacArthur DG, Mao R. Carlston CM, et al. Among authors: weisburd b. Hum Mutat. 2017 May;38(5):517-523. doi: 10.1002/humu.23203. Epub 2017 Mar 21. Hum Mutat. 2017. PMID: 28229513 Free PMC article. Review.
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium; Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Cummings BB, et al. Among authors: weisburd b. Sci Transl Med. 2017 Apr 19;9(386):eaal5209. doi: 10.1126/scitranslmed.aal5209. Sci Transl Med. 2017. PMID: 28424332 Free PMC article.
ClinVar data parsing.
Zhang X, Minikel EV, O'Donnell-Luria AH, MacArthur DG, Ware JS, Weisburd B. Zhang X, et al. Among authors: weisburd b. Wellcome Open Res. 2017 May 23;2:33. doi: 10.12688/wellcomeopenres.11640.1. eCollection 2017. Wellcome Open Res. 2017. PMID: 28630944 Free PMC article.
matchbox: An open-source tool for patient matching via the Matchmaker Exchange.
Arachchi H, Wojcik MH, Weisburd B, Jacobsen JOB, Valkanas E, Baxter S, Byrne AB, O'Donnell-Luria AH, Haendel M, Smedley D, MacArthur DG, Philippakis AA, Rehm HL. Arachchi H, et al. Among authors: weisburd b. Hum Mutat. 2018 Dec;39(12):1827-1834. doi: 10.1002/humu.23655. Epub 2018 Oct 3. Hum Mutat. 2018. PMID: 30240502 Free PMC article.
64 results