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Lymphoid blast transformation in an MPN with BCR-JAK2 treated with ruxolitinib: putative mechanisms of resistance.
Chen JA, Hou Y, Roskin KM, Arber DA, Bangs CD, Baughn LB, Cherry AM, Ewalt MD, Fire AZ, Fresard L, Kearney HM, Montgomery SB, Ohgami RS, Pearce KE, Pitel BA, Merker JD, Gotlib J. Chen JA, et al. Among authors: montgomery sb. Blood Adv. 2021 Sep 14;5(17):3492-3496. doi: 10.1182/bloodadvances.2020004174. Blood Adv. 2021. PMID: 34505882 Free PMC article.
Proficiency Testing of Standardized Samples Shows Very High Interlaboratory Agreement for Clinical Next-Generation Sequencing-Based Oncology Assays.
Merker JD, Devereaux K, Iafrate AJ, Kamel-Reid S, Kim AS, Moncur JT, Montgomery SB, Nagarajan R, Portier BP, Routbort MJ, Smail C, Surrey LF, Vasalos P, Lazar AJ, Lindeman NI. Merker JD, et al. Among authors: montgomery sb. Arch Pathol Lab Med. 2019 Apr;143(4):463-471. doi: 10.5858/arpa.2018-0336-CP. Epub 2018 Oct 30. Arch Pathol Lab Med. 2019. PMID: 30376374 Free PMC article.
Diagnosing rare diseases after the exome.
Frésard L, Montgomery SB. Frésard L, et al. Among authors: montgomery sb. Cold Spring Harb Mol Case Stud. 2018 Dec 17;4(6):a003392. doi: 10.1101/mcs.a003392. Print 2018 Dec. Cold Spring Harb Mol Case Stud. 2018. PMID: 30559314 Free PMC article. Review.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Frésard L, Smail C, Ferraro NM, Teran NA, Li X, Smith KS, Bonner D, Kernohan KD, Marwaha S, Zappala Z, Balliu B, Davis JR, Liu B, Prybol CJ, Kohler JN, Zastrow DB, Reuter CM, Fisk DG, Grove ME, Davidson JM, Hartley T, Joshi R, Strober BJ, Utiramerur S; Undiagnosed Diseases Network; Care4Rare Canada Consortium; Lind L, Ingelsson E, Battle A, Bejerano G, Bernstein JA, Ashley EA, Boycott KM, Merker JD, Wheeler MT, Montgomery SB. Frésard L, et al. Among authors: montgomery sb. Nat Med. 2019 Jun;25(6):911-919. doi: 10.1038/s41591-019-0457-8. Epub 2019 Jun 3. Nat Med. 2019. PMID: 31160820 Free PMC article.
The impact of rare variation on gene expression across tissues.
Li X, Kim Y, Tsang EK, Davis JR, Damani FN, Chiang C, Hess GT, Zappala Z, Strober BJ, Scott AJ, Li A, Ganna A, Bassik MC, Merker JD; GTEx Consortium; Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group; Statistical Methods groups—Analysis Working Group; Enhancing GTEx (eGTEx) groups; NIH Common Fund; NIH/NCI; NIH/NHGRI; NIH/NIMH; NIH/NIDA; Biospecimen Collection Source Site—NDRI; Biospecimen Collection Source Site—RPCI; Biospecimen Core Resource—VARI; Brain Bank Repository—University of Miami Brain Endowment Bank; Leidos Biomedical—Project Management; ELSI Study; Genome Browser Data Integration &Visualization—EBI; Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz; Hall IM, Battle A, Montgomery SB. Li X, et al. Among authors: montgomery sb. Nature. 2017 Oct 11;550(7675):239-243. doi: 10.1038/nature24267. Nature. 2017. PMID: 29022581 Free PMC article.
Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases.
Corces MR, Shcherbina A, Kundu S, Gloudemans MJ, Frésard L, Granja JM, Louie BH, Eulalio T, Shams S, Bagdatli ST, Mumbach MR, Liu B, Montine KS, Greenleaf WJ, Kundaje A, Montgomery SB, Chang HY, Montine TJ. Corces MR, et al. Among authors: montgomery sb. Nat Genet. 2020 Nov;52(11):1158-1168. doi: 10.1038/s41588-020-00721-x. Epub 2020 Oct 26. Nat Genet. 2020. PMID: 33106633 Free PMC article.
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
Chen YH, Zastrow DB, Metcalfe RD, Gartner L, Krause F, Morton CJ, Marwaha S, Fresard L, Huang Y, Zhao C, McCormack C, Bick D, Worthey EA, Eng CM, Gold J, Undiagnosed Diseases Network, Montgomery SB, Fisher PG, Ashley EA, Wheeler MT, Parker MW, Shanmugasundaram V, Putoczki TL, Schmidt-Arras D, Laurence A, Bernstein JA, Griffin MDW, Uhlig HH. Chen YH, et al. Among authors: montgomery sb. J Allergy Clin Immunol. 2021 Aug;148(2):585-598. doi: 10.1016/j.jaci.2021.02.044. Epub 2021 Mar 23. J Allergy Clin Immunol. 2021. PMID: 33771552 Clinical Trial.
Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.
Burke EA, Sturgeon M, Zastrow DB, Fernandez L, Prybol C, Marwaha S, Frothingham EP, Ward PA, Eng CM, Fresard L, Montgomery SB, Enns GM, Fisher PG, Wolfe LA, Harding B, Carrington B, Bishop K, Sood R, Huang Y, Elkahloun A, Toro C, Bassuk AG, Wheeler MT, Markello TC, Gahl WA, Malicdan MCV. Burke EA, et al. Among authors: montgomery sb. J Neurogenet. 2021 Mar-Jun;35(2):74-83. doi: 10.1080/01677063.2021.1892095. Epub 2021 May 10. J Neurogenet. 2021. PMID: 33970744
A Quantitative Proteome Map of the Human Body.
Jiang L, Wang M, Lin S, Jian R, Li X, Chan J, Dong G, Fang H, Robinson AE; GTEx Consortium; Snyder MP. Jiang L, et al. Cell. 2020 Oct 1;183(1):269-283.e19. doi: 10.1016/j.cell.2020.08.036. Epub 2020 Sep 10. Cell. 2020. PMID: 32916130 Free PMC article.
238 results