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Page 1
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. 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 Free PMC article.
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Mighton C, et al. J Med Genet. 2022 Jun;59(6):571-578. doi: 10.1136/jmedgenet-2021-107738. Epub 2021 Apr 19. J Med Genet. 2022. PMID: 33875564 Free PMC article.
Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing.
Clausen M, Krishnapillai S, Hirjikaka D, Kodida R, Shickh S, Reble E, Mighton C, Sam J, Adi-Wauran E, Baxter NN, Feldman G, Glogowski E, Lerner-Ellis J, Scheer A, Shastri-Estrada S, Shuman C, Armel SR, Aronson M, Graham T, Panchal S, Thorpe KE, Carroll JC, Eisen A, Elser C, Kim RH, Faghfoury H, Schrader KA, Seto E, Bombard Y. Clausen M, et al. Among authors: lerner ellis j. Genet Med Open. 2024 Jan 23;2:101814. doi: 10.1016/j.gimo.2024.101814. eCollection 2024. Genet Med Open. 2024. PMID: 39669596 Free PMC article.
Clinical Utility of Genomic Sequencing for Hereditary Cancer Syndromes: An Observational Cohort Study.
Shickh S, Mighton C, Clausen M, Sam J, Hirjikaka D, Reble E, Graham T, Panchal S, Eisen A, Elser C, Schrader KA, Baxter NN, Laupacis A, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Shickh S, et al. Among authors: lerner ellis j. JCO Precis Oncol. 2024 Dec;8:e2400407. doi: 10.1200/PO-24-00407. Epub 2024 Dec 12. JCO Precis Oncol. 2024. PMID: 39666930
Characterizing the SARS-CoV-2 antibody response and associations with patient factors: Serological profiling of participants enrolled in the GENCOV study.
Morgan G, Fung CYJ, Gingras AC, Colwill K, Briollais L, Frangione E, Wolday D, Qi F, Pasculescu A, Delgado-Brand M, Mailhot G, Tursun T, Arnoldo S, Bearss E, Binnie A, Borgundvaag B, Casalino S, Chowdhary S, Dagher M, Devine L, Elliott LT, Friedman SM, Khan Z, Lapadula E, MacDonald G, Mazzulli T, McLeod SL, Mighton C, Nirmalanathan K, Richardson D, Stern S, Taher A, Young J, Lerner-Ellis J, Taher J. Morgan G, et al. Among authors: lerner ellis j. Clin Biochem. 2024 Dec 5;135:110859. doi: 10.1016/j.clinbiochem.2024.110859. Online ahead of print. Clin Biochem. 2024. PMID: 39645018 Free article.
Development of the Ontario Hereditary Cancer Research Network, a unified registry as a resource for individuals with inherited cancer syndromes: an observational registry creation protocol.
Farncombe KM, Hughes LK, Tuzlali E, Akbari MR, Andrulis IL, Aronson M, Bell K, Brazas MD, Cable-Cibula M, Chan B, Courtot M, Feilotter H, Harland J, Lark K, Lerner-Ellis J, MacDougall E, Malkin D, Narod SA, Panabaker K, Radvanyi L, Rusnak A, Stein L, Kim RH; OHCRN community. Farncombe KM, et al. Among authors: lerner ellis j. BMJ Open. 2024 Nov 24;14(11):e087023. doi: 10.1136/bmjopen-2024-087023. BMJ Open. 2024. PMID: 39581712 Free PMC article.
Workshop summaries from the 2024 voice AI symposium, presented by the Bridge2AI-voice consortium.
Bahr R, Anibal J, Bedrick S, Bélisle-Pipon JC, Bensoussan Y, Blaylock N, Castermans J, Comito K, Dorr D, Hale G, Jackson C, Krussel A, Kuman K, Komarlu AR, Lerner-Ellis J, Powell M, Ravitsky V, Rameau A, Reavis C, Sigaras A, Cruz SS, Vojtech J, Urbano M, Watts S, Zhao R, Toghranegar J; Bridge2AI-Voice Consortium. Bahr R, et al. Among authors: lerner ellis j. Front Digit Health. 2024 Oct 30;6:1484818. doi: 10.3389/fdgth.2024.1484818. eCollection 2024. Front Digit Health. 2024. PMID: 39540145 Free PMC article. Review.
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C, Kodida R, Shickh S, Clausen M, Reble E, Sam J, Grewal S, Hirjikaka D, Panchal S, Piccinin C, Aronson M, Ward T, Armel SR, Hofstedter R, Graham T, Mancuso T, Forster N, Capo-Chichi JM, Greenfeld E, Noor A, Cohn I, Morel CF, Elser C, Eisen A, Carroll JC, Glogowksi E, Schrader KA, Chan KKW, Thorpe KE, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Mighton C, et al. Among authors: lerner ellis j. Genet Med. 2024 Nov 8:101323. doi: 10.1016/j.gim.2024.101323. Online ahead of print. Genet Med. 2024. PMID: 39530317
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, Fung CYJ, 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: lerner ellis j. Genet Med. 2024 Dec;26(12):101272. doi: 10.1016/j.gim.2024.101272. Epub 2024 Sep 17. 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: lerner ellis j. Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077. Online ahead of print. Ann Neurol. 2024. PMID: 39301775
107 results