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Page 1
A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study.
Casalino S, Mighton C, Clausen M, Frangione E, Aujla N, MacDonald G, Young J, Jordan Fung CY, Morgan G, Arnoldo S, Bearss E, Binnie A, Borgundvaag B, Chowdhary S, Dagher M, Devine L, Friedman SM, Hao L, Khan Z, Lane W, Lapadula E, Lebo M, Richardson D, Stern S, Strug L, Taher A, Greenfeld E, Noor A, Faghfoury H, Taher J, Bombard Y, Lerner-Ellis J; GENCOV Study Workgroup. Casalino S, et al. Among authors: mighton c. Genet Med. 2024 Sep 17:101272. doi: 10.1016/j.gim.2024.101272. Online ahead of print. Genet Med. 2024. PMID: 39301805
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 CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bußmann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, 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. Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077. Online ahead of print. Ann Neurol. 2024. PMID: 39301775
International policies guiding the selection, analysis, and clinical management of secondary findings from genomic sequencing: A systematic review.
Majeed S, Johnston C, Saeedi S, Mighton C, Rokoszak V, Abbasi I, Grewal S, Aguda V, Kissoondoyal A, Malkin D, Bombard Y. Majeed S, et al. Among authors: mighton c. Am J Hum Genet. 2024 Sep 7:S0002-9297(24)00298-2. doi: 10.1016/j.ajhg.2024.08.012. Online ahead of print. Am J Hum Genet. 2024. PMID: 39299240 Review.
COVID-19 vaccine reactogenicity among participants enrolled in the GENCOV study.
Morgan G, Casalino S, Chowdhary S, Frangione E, Fung CYJ, Lapadula E, Arnoldo S, Bearss E, Binnie A, Borgundvaag B, Briollais L, Dagher M, Devine L, Friedman SM, Khan Z, Mighton C, Nirmalanathan K, Richardson D, Stern S, Taher A, Wolday D, Lerner-Ellis J, Taher J. Morgan G, et al. Among authors: mighton c. Vaccine. 2024 Apr 19;42(11):2733-2739. doi: 10.1016/j.vaccine.2024.03.030. Epub 2024 Mar 23. Vaccine. 2024. PMID: 38521677
Validation of low-pass genome sequencing for prenatal diagnosis.
Mighton C, Noor A, Watkins N, Di Gioacchino V, Lerner-Ellis J, Wong A, Mukharryamova E, Anggala N, Chitayat D, Greenfeld E. Mighton C, et al. Prenat Diagn. 2024 Apr;44(4):443-453. doi: 10.1002/pd.6525. Epub 2024 Jan 27. Prenat Diagn. 2024. PMID: 38279846
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
52 results