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Year Number of Results
2015 1
2016 1
2018 2
2019 7
2020 8
2021 14
2022 13
2023 10
2024 3

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47 results

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Page 1
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: mighton c. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. PMID: 37398376 Free PMC article. Preprint.
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus LR, Chen C, Stallworth J, Turner JL, Slaats GG, Hawks AL, Mabillard H, Senum SR, Srikanth S, Flanagan-Steet H, Louie RJ, Silver J, Lerner-Ellis J, Morel C, Mighton C, Sleutels F, van Slegtenhorst M, van Ham T, Brooks AS, Dorresteijn EM, Barakat TS, Dahan K, Demoulin N, Goffin EJ, Olinger E; Genomics England Research Consortium; Larsen M, Hertz JM, Lilien MR, Obeidová L, Seeman T, Stone HK, Kerecuk L, Gurgu M, Yousef Yengej FA, Ammerlaan CME, Rookmaaker MB, Hanna C, Rogers RC, Duran K, Peters E, Sayer JA, van Haaften G, Harris PC, Ling K, Mason JM, van Eerde AM, Steet R. Claus LR, et al. Among authors: mighton c. Kidney Int. 2023 Nov;104(5):995-1007. doi: 10.1016/j.kint.2023.07.021. Epub 2023 Aug 19. Kidney Int. 2023. PMID: 37598857
Addressing the challenges of polygenic scores in human genetic research.
Novembre J, Stein C, Asgari S, Gonzaga-Jauregui C, Landstrom A, Lemke A, Li J, Mighton C, Taylor M, Tishkoff S. Novembre J, et al. Among authors: mighton c. Am J Hum Genet. 2022 Dec 1;109(12):2095-2100. doi: 10.1016/j.ajhg.2022.10.012. Am J Hum Genet. 2022. PMID: 36459976 Free PMC article. Review.
A model for the return and referral of all clinically significant secondary findings of genomic sequencing.
Kodida R, Reble E, Clausen M, Shickh S, Mighton C, Sam J, Forster N, Panchal S, Aronson M, Semotiuk K, Graham T, Silberman Y, Randall Armel S, McCuaig JM, Cohn I, Morel CF, Elser C, Eisen A, Carroll JC, Glogowski E, Schrader KA, Di Gioacchino V, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Kodida R, et al. Among authors: mighton c. J Med Genet. 2023 Aug;60(8):733-739. doi: 10.1136/jmg-2022-109091. Epub 2023 May 22. J Med Genet. 2023. PMID: 37217257 Review.
Great expectations: patients' preferences for clinically significant results from genomic sequencing.
Shickh S, Sebastian A, Clausen M, Mighton C, Elser C, Eisen A, Waldman L, Panchal S, Ward T, Carroll JC, Glogowski E, Schrader KA, Lerner-Ellis J, Kim RH, Thorpe KE, Bombard Y; Incidental Genomics Team members to be indexed in PubMed. Shickh S, et al. Among authors: mighton c. Hum Genet. 2023 Apr;142(4):553-562. doi: 10.1007/s00439-023-02543-3. Epub 2023 Mar 21. Hum Genet. 2023. PMID: 36943453
"I don't need any more unknowns hanging over my head": Views of patients with cancer on variants of uncertain significance and low/moderate risk results from genomic sequencing.
Shickh S, Mighton C, Clausen M, Kodida R, Adi-Wauran E, Hirjikaka D, Krishnapillai S, Reble E, Sam J, Baxter NN, Laupacis A, Bombard Y; Incidental Genomics Study Team. Shickh S, et al. Among authors: mighton c. Genet Med. 2023 Dec;25(12):100960. doi: 10.1016/j.gim.2023.100960. Epub 2023 Aug 11. Genet Med. 2023. PMID: 37577963
Genome screening, reporting, and genetic counseling for healthy populations.
Casalino S, Frangione E, Chung M, MacDonald G, Chowdhary S, Mighton C, Faghfoury H, Bombard Y, Strug L, Pugh TJ, Simpson J, Arnoldo S, Aujla N, Bearss E, Binnie A, Borgundvaag B, Chertkow H, Clausen M, Dagher M, Devine L, Di Iorio D, Friedman SM, Fung CYJ, Gingras AC, Goneau LW, Kaushik D, Khan Z, Lapadula E, Lu T, Mazzulli T, McGeer A, McLeod SL, Morgan G, Richardson D, Singh H, Stern S, Taher A, Wong I, Zarei N, Greenfeld E, Hao L, Lebo M, Lane W, Noor A, Taher J, Lerner-Ellis J. Casalino S, et al. Among authors: mighton c. Hum Genet. 2023 Feb;142(2):181-192. doi: 10.1007/s00439-022-02480-7. Epub 2022 Nov 4. Hum Genet. 2023. PMID: 36331656 Free PMC article.
47 results