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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 4
2003 2
2004 6
2005 3
2006 1
2007 3
2008 3
2009 2
2010 2
2011 4
2012 5
2013 1
2014 2
2015 5
2016 2
2017 3
2018 7
2019 16
2020 5
2021 3
2022 4
2023 5
2024 4

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81 results

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Page 1
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.
Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
Del Gobbo GF, Wang X, Couse M, Mackay L, Goldsmith C, Marshall AE, Liang Y, Lambert C, Zhang S, Dhillon H, Fanslow C, Rowell WJ; Care4Rare Canada Consortium; Marshall CR, Kernohan KD, Boycott KM. Del Gobbo GF, et al. Among authors: lambert c. Am J Med Genet A. 2024 May;194(5):e63522. doi: 10.1002/ajmg.a.63522. Epub 2023 Dec 22. Am J Med Genet A. 2024. PMID: 38131126
Omitting Radiotherapy after Breast-Conserving Surgery in Luminal A Breast Cancer.
Whelan TJ, Smith S, Parpia S, Fyles AW, Bane A, Liu FF, Rakovitch E, Chang L, Stevens C, Bowen J, Provencher S, Théberge V, Mulligan AM, Kos Z, Akra MA, Voduc KD, Hijal T, Dayes IS, Pond G, Wright JR, Nielsen TO, Levine MN; LUMINA Study Investigators. Whelan TJ, et al. N Engl J Med. 2023 Aug 17;389(7):612-619. doi: 10.1056/NEJMoa2302344. N Engl J Med. 2023. PMID: 37585627
Targeted Intraoperative Radiation Therapy during Breast-Conserving Surgery for Patients with Early Stage Breast Cancer: A Phase II Single Center Prospective Trial.
Martinez C, Meterissian S, Saidi A, Tremblay F, Meguerditchian AN, Fleiszer D, Lambert C, David M, Panet-Raymond V, Abdulkarim B, Hijal T. Martinez C, et al. Among authors: lambert c. Adv Radiat Oncol. 2023 Apr 8;8(5):101236. doi: 10.1016/j.adro.2023.101236. eCollection 2023 Sep-Oct. Adv Radiat Oncol. 2023. PMID: 37408681 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.
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.
81 results