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

Year Number of Results
1993 1
2006 2
2007 1
2008 4
2009 1
2010 2
2011 2
2012 1
2013 4
2014 4
2015 1
2016 1
2017 4
2018 8
2019 5
2020 10
2021 4
2022 3
2023 3
2024 2

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50 results

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Page 1
Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Among authors: del gaudio d. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.
Reprogramming human T cell function and specificity with non-viral genome targeting.
Roth TL, Puig-Saus C, Yu R, Shifrut E, Carnevale J, Li PJ, Hiatt J, Saco J, Krystofinski P, Li H, Tobin V, Nguyen DN, Lee MR, Putnam AL, Ferris AL, Chen JW, Schickel JN, Pellerin L, Carmody D, Alkorta-Aranburu G, Del Gaudio D, Matsumoto H, Morell M, Mao Y, Cho M, Quadros RM, Gurumurthy CB, Smith B, Haugwitz M, Hughes SH, Weissman JS, Schumann K, Esensten JH, May AP, Ashworth A, Kupfer GM, Greeley SAW, Bacchetta R, Meffre E, Roncarolo MG, Romberg N, Herold KC, Ribas A, Leonetti MD, Marson A. Roth TL, et al. Among authors: del gaudio d. Nature. 2018 Jul;559(7714):405-409. doi: 10.1038/s41586-018-0326-5. Epub 2018 Jul 11. Nature. 2018. PMID: 29995861 Free PMC article.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: del gaudio d. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.
Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Sun M, et al. Among authors: del gaudio d. Genet Med. 2019 Jan;21(1):195-206. doi: 10.1038/s41436-018-0007-7. Epub 2018 Jun 18. Genet Med. 2019. PMID: 29915382 Free PMC article.
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Mitchell OD, Gilliam K, Del Gaudio D, McNeely KE, Smith S, Acevedo M, Gaduraju M, Hodge R, Ramsland ASS, Segal J, Das S, Hathaway F, Bryan DS, Tawde S, Galasinski S, Wang P, Tjota MY, Husain AN, Armato SG 3rd, Donington J, Ferguson MK, Turaga K, Churpek JE, Kindler HL, Drazer MW. Mitchell OD, et al. Among authors: del gaudio d. JAMA Netw Open. 2023 Aug 1;6(8):e2327351. doi: 10.1001/jamanetworkopen.2023.27351. JAMA Netw Open. 2023. PMID: 37556141 Free PMC article.
Maturity-Onset Diabetes of the Young Overview.
Naylor R, Knight Johnson A, del Gaudio D. Naylor R, et al. Among authors: del gaudio d. 2018 May 24. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2018 May 24. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 29792621 Free Books & Documents. Review.
Response to Mounts and Besser.
Raca G, Shinawi M, Gaudio DD; American College of Medical Genetics and Genomics. Raca G, et al. Among authors: gaudio dd. Genet Med. 2021 Jan;23(1):240-242. doi: 10.1038/s41436-020-00940-x. Epub 2020 Aug 20. Genet Med. 2021. PMID: 32814848 Free article. No abstract available.
50 results