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Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
LaFlamme CW, Rastin C, Sengupta S, Pennington HE, Russ-Hall SJ, Schneider AL, Bonkowski ES, Almanza Fuerte EP, Galey M, Goffena J, Gibson SB, Allan TJ, Nyaga DM, Lieffering N, Hebbar M, Walker EV, Darnell D, Olsen SR, Kolekar P, Djekidel N, Rosikiewicz W, McConkey H, Kerkhof J, Levy MA, Relator R, Lev D, Lerman-Sagie T, Park KL, Alders M, Cappuccio G, Chatron N, Demain L, Genevieve D, Lesca G, Roscioli T, Sanlaville D, Tedder ML, Hubshman MW, Ketkar S, Dai H, Worley KC, Rosenfeld JA, Chao HT; Undiagnosed Diseases Network; Neale G, Carvill GL; University of Washington Center for Rare Disease Research; Wang Z, Berkovic SF, Sadleir LG, Miller DE, Scheffer IE, Sadikovic B, Mefford HC. LaFlamme CW, et al. Among authors: gibson sb. medRxiv [Preprint]. 2023 Oct 12:2023.10.11.23296741. doi: 10.1101/2023.10.11.23296741. medRxiv. 2023. PMID: 37873138 Free PMC article. Preprint.
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
Gustafson JA, Gibson SB, Damaraju N, Zalusky MP, Hoekzema K, Twesigomwe D, Yang L, Snead AA, Richmond PA, De Coster W, Olson ND, Guarracino A, Li Q, Miller AL, Goffena J, Anderson Z, Storz SH, Ward SA, Sinha M, Gonzaga-Jauregui C, Clarke WE, Basile AO, Corvelo A, Reeves C, Helland A, Musunuri RL, Revsine M, Patterson KE, Paschal CR, Zakarian C, Goodwin S, Jensen TD, Robb E; 1000 Genomes ONT Sequencing Consortium; University of Washington Center for Rare Disease Research (UW-CRDR); Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; McCombie WR, Sedlazeck FJ, Zook JM, Montgomery SB, Garrison E, Kolmogorov M, Schatz MC, McLaughlin RN Jr, Dashnow H, Zody MC, Loose M, Jain M, Eichler EE, Miller DE. Gustafson JA, et al. Among authors: gibson sb. medRxiv [Preprint]. 2024 Mar 7:2024.03.05.24303792. doi: 10.1101/2024.03.05.24303792. medRxiv. 2024. PMID: 38496498 Free PMC article. Preprint.
Breast Tumor Metastasis and Its Microenvironment: It Takes Both Seed and Soil to Grow a Tumor and Target It for Treatment.
Bonni S, Brindley DN, Chamberlain MD, Daneshvar-Baghbadorani N, Freywald A, Hemmings DG, Hombach-Klonisch S, Klonisch T, Raouf A, Shemanko CS, Topolnitska D, Visser K, Vizeacoumar FJ, Wang E, Gibson SB. Bonni S, et al. Among authors: gibson sb. Cancers (Basel). 2024 Feb 23;16(5):911. doi: 10.3390/cancers16050911. Cancers (Basel). 2024. PMID: 38473273 Free PMC article. Review.
CaeNDR, the Caenorhabditis Natural Diversity Resource.
Crombie TA, McKeown R, Moya ND, Evans KS, Widmayer SJ, LaGrassa V, Roman N, Tursunova O, Zhang G, Gibson SB, Buchanan CM, Roberto NM, Vieira R, Tanny RE, Andersen EC. Crombie TA, et al. Among authors: gibson sb. Nucleic Acids Res. 2024 Jan 5;52(D1):D850-D858. doi: 10.1093/nar/gkad887. Nucleic Acids Res. 2024. PMID: 37855690 Free PMC article.
Safety and efficacy of arimoclomol for inclusion body myositis: a multicentre, randomised, double-blind, placebo-controlled trial.
Machado PM, McDermott MP, Blaettler T, Sundgreen C, Amato AA, Ciafaloni E, Freimer M, Gibson SB, Jones SM, Levine TD, Lloyd TE, Mozaffar T, Shaibani AI, Wicklund M, Rosholm A, Carstensen TD, Bonefeld K, Jørgensen AN, Phonekeo K, Heim AJ, Herbelin L, Barohn RJ, Hanna MG, Dimachkie MM; Arimoclomol in IBM Investigator Team of the Neuromuscular Study Group. Machado PM, et al. Among authors: gibson sb. Lancet Neurol. 2023 Oct;22(10):900-911. doi: 10.1016/S1474-4422(23)00275-2. Lancet Neurol. 2023. PMID: 37739573 Free article. Clinical Trial.
Clinical Outcomes in a Large Canadian Centralized CLL Clinic Based on Treatment and Molecular Factors over a Decade.
Yang J, Yang L, Tordon B, Bucher O, Nugent Z, Landego I, Bourrier N, Uminski K, Brown K, Squires M, Marshall AJ, Katyal S, Mahmud S, Decker K, Geirnaert M, Dawe DE, Gibson SB, Johnston JB, Banerji V. Yang J, et al. Among authors: gibson sb. Curr Oncol. 2023 Jul 5;30(7):6411-6431. doi: 10.3390/curroncol30070472. Curr Oncol. 2023. PMID: 37504332 Free PMC article.
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T; American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Kaivola K, et al. Cell Genom. 2023 May 4;3(6):100316. doi: 10.1016/j.xgen.2023.100316. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388914 Free PMC article.
151 results