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Page 1
Improved high quality sand fly assemblies enabled by ultra low input long read sequencing.
Huang M, Kingan S, Shoue D, Nguyen O, Froenicke L, Galvin B, Lambert C, Khan R, Maheshwari C, Weisz D, Maslen G, Davison H, Aiden EL, Korlach J, Dudchenko O, McDowell MA, Richards S. Huang M, et al. Among authors: lambert c. Sci Data. 2024 Aug 24;11(1):918. doi: 10.1038/s41597-024-03628-y. Sci Data. 2024. PMID: 39181902 Free PMC article.
Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
Merker JD, Wenger AM, Sneddon T, Grove M, Zappala Z, Fresard L, Waggott D, Utiramerur S, Hou Y, Smith KS, Montgomery SB, Wheeler M, Buchan JG, Lambert CC, Eng KS, Hickey L, Korlach J, Ford J, Ashley EA. Merker JD, et al. Among authors: lambert cc. Genet Med. 2018 Jan;20(1):159-163. doi: 10.1038/gim.2017.86. Epub 2017 Jun 22. Genet Med. 2018. PMID: 28640241 Free PMC article.
Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Chaisson MJP, Sanders AD, Zhao X, Malhotra A, Porubsky D, Rausch T, Gardner EJ, Rodriguez OL, Guo L, Collins RL, Fan X, Wen J, Handsaker RE, Fairley S, Kronenberg ZN, Kong X, Hormozdiari F, Lee D, Wenger AM, Hastie AR, Antaki D, Anantharaman T, Audano PA, Brand H, Cantsilieris S, Cao H, Cerveira E, Chen C, Chen X, Chin CS, Chong Z, Chuang NT, Lambert CC, Church DM, Clarke L, Farrell A, Flores J, Galeev T, Gorkin DU, Gujral M, Guryev V, Heaton WH, Korlach J, Kumar S, Kwon JY, Lam ET, Lee JE, Lee J, Lee WP, Lee SP, Li S, Marks P, Viaud-Martinez K, Meiers S, Munson KM, Navarro FCP, Nelson BJ, Nodzak C, Noor A, Kyriazopoulou-Panagiotopoulou S, Pang AWC, Qiu Y, Rosanio G, Ryan M, Stütz A, Spierings DCJ, Ward A, Welch AE, Xiao M, Xu W, Zhang C, Zhu Q, Zheng-Bradley X, Lowy E, Yakneen S, McCarroll S, Jun G, Ding L, Koh CL, Ren B, Flicek P, Chen K, Gerstein MB, Kwok PY, Lansdorp PM, Marth GT, Sebat J, Shi X, Bashir A, Ye K, Devine SE, Talkowski ME, Mills RE, Marschall T, Korbel JO, Eichler EE, Lee C. Chaisson MJP, et al. Among authors: lambert cc. Nat Commun. 2019 Apr 16;10(1):1784. doi: 10.1038/s41467-018-08148-z. Nat Commun. 2019. PMID: 30992455 Free PMC article.
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Cohen ASA, et al. Among authors: lambert c. Genet Med. 2022 Jun;24(6):1336-1348. doi: 10.1016/j.gim.2022.02.007. Epub 2022 Mar 16. Genet Med. 2022. PMID: 35305867 Free article.
Approaches to long-read sequencing in a clinical setting to improve diagnostic rate.
Sanford Kobayashi E, Batalov S, Wenger AM, Lambert C, Dhillon H, Hall RJ, Baybayan P, Ding Y, Rego S, Wigby K, Friedman J, Hobbs C, Bainbridge MN. Sanford Kobayashi E, et al. Among authors: lambert c. Sci Rep. 2022 Oct 9;12(1):16945. doi: 10.1038/s41598-022-20113-x. Sci Rep. 2022. PMID: 36210382 Free PMC article.
Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Kucuk E, van der Sanden BPGH, O'Gorman L, Kwint M, Derks R, Wenger AM, Lambert C, Chakraborty S, Baybayan P, Rowell WJ, Brunner HG, Vissers LELM, Hoischen A, Gilissen C. Kucuk E, et al. Among authors: lambert c. Genome Med. 2023 May 8;15(1):34. doi: 10.1186/s13073-023-01183-6. Genome Med. 2023. PMID: 37158973 Free PMC article.
Closing the gap: Solving complex medically relevant genes at scale.
Mahmoud M, Harting J, Corbitt H, Chen X, Jhangiani SN, Doddapaneni H, Meng Q, Han T, Lambert C, Zhang S, Baybayan P, Henno G, Shen H, Hu J, Han Y, Riegler C, Metcalf G, Henno G, Chinn IK, Eberle MA, Kingan S, Farinholt T, Carvalho CMB, Gibbs RA, Kronenberg Z, Muzny D, Sedlazeck FJ. Mahmoud M, et al. Among authors: lambert c. medRxiv [Preprint]. 2024 Mar 18:2024.03.14.24304179. doi: 10.1101/2024.03.14.24304179. medRxiv. 2024. PMID: 38562723 Free PMC article. Preprint.
Structural variation and its potential impact on genome instability: Novel discoveries in the EGFR landscape by long-read sequencing.
Cook GW, Benton MG, Akerley W, Mayhew GF, Moehlenkamp C, Raterman D, Burgess DL, Rowell WJ, Lambert C, Eng K, Gu J, Baybayan P, Fussell JT, Herbold HD, O'Shea JM, Varghese TK, Emerson LL. Cook GW, et al. Among authors: lambert c. PLoS One. 2020 Jan 15;15(1):e0226340. doi: 10.1371/journal.pone.0226340. eCollection 2020. PLoS One. 2020. PMID: 31940362 Free PMC article.
2,256 results