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An interactive atlas of three-dimensional syndromic facial morphology.
Aponte JD, Bannister JJ, Hoskens H, Matthews H, Katsura K, Da Silva C, Cruz T, Pilz JHM, Spritz RA, Forkert ND, Claes P, Bernier FP, Klein OD, Katz DC, Hallgrímsson B. Aponte JD, et al. Among authors: bernier fp. Am J Hum Genet. 2024 Jan 4;111(1):39-47. doi: 10.1016/j.ajhg.2023.11.011. Am J Hum Genet. 2024. PMID: 38181734
Comparing 2D and 3D representations for face-based genetic syndrome diagnosis.
Bannister JJ, Wilms M, Aponte JD, Katz DC, Klein OD, Bernier FP, Spritz RA, Hallgrímsson B, Forkert ND. Bannister JJ, et al. Among authors: bernier fp. Eur J Hum Genet. 2023 Sep;31(9):1010-1016. doi: 10.1038/s41431-023-01308-w. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36750664
Detecting 3D syndromic faces as outliers using unsupervised normalizing flow models.
Bannister JJ, Wilms M, Aponte JD, Katz DC, Klein OD, Bernier FPJ, Spritz RA, Hallgrímsson B, Forkert ND. Bannister JJ, et al. Among authors: bernier fpj. Artif Intell Med. 2022 Dec;134:102425. doi: 10.1016/j.artmed.2022.102425. Epub 2022 Oct 20. Artif Intell Med. 2022. PMID: 36462895 Free PMC article.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Shashi V, et al. Among authors: bernier fp. Genet Med. 2023 Sep;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub 2023 May 13. Genet Med. 2023. PMID: 37191094 Free PMC article.
HostSeq: a Canadian whole genome sequencing and clinical data resource.
Yoo S, Garg E, Elliott LT, Hung RJ, Halevy AR, Brooks JD, Bull SB, Gagnon F, Greenwood C, Lawless JF, Paterson AD, Sun L, Zawati MH, Lerner-Ellis J, Abraham R, Birol I, Bourque G, Garant JM, Gosselin C, Li J, Whitney J, Thiruvahindrapuram B, Herbrick JA, Lorenti M, Reuter MS, Adeoye OO, Liu S, Allen U, Bernier FP, Biggs CM, Cheung AM, Cowan J, Herridge M, Maslove DM, Modi BP, Mooser V, Morris SK, Ostrowski M, Parekh RS, Pfeffer G, Suchowersky O, Taher J, Upton J, Warren RL, Yeung R, Aziz N, Turvey SE, Knoppers BM, Lathrop M, Jones S, Scherer SW, Strug LJ. Yoo S, et al. Among authors: bernier fp. BMC Genom Data. 2023 May 2;24(1):26. doi: 10.1186/s12863-023-01128-3. BMC Genom Data. 2023. PMID: 37131148 Free PMC article.
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
de Kock L, Cuillerier A, Gillespie M, Couse M, Hartley T, Mears W, Bernier FP, Chudley AE, Frosk P, Nikkel SM, Innes AM, Lauzon J, Thomas M, Guerin A, Armour CM, Weksberg R, Scott JN, Watkins D, Harvey S, Cytrynbaum C; Care4Rare Canada Consortium; Kernohan KD, Boycott KM. de Kock L, et al. Among authors: bernier fp. Am J Med Genet A. 2024 Mar;194(3):e63466. doi: 10.1002/ajmg.a.63466. Epub 2023 Nov 10. Am J Med Genet A. 2024. PMID: 37949664
Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping Review.
Currie GR, Gerber B, Lorenzetti D, MacDonald K, Benseler SM, Bernier FP, Boycott KM, Carias KV, Hamelin B, Hayeems RZ, LeBlanc C, Twilt M, van Rooijen G, Wong-Rieger D, Yeung RSM, Marshall DA. Currie GR, et al. Among authors: bernier fp. Pharmacoeconomics. 2023 Jul;41(7):803-818. doi: 10.1007/s40273-023-01262-x. Epub 2023 Apr 7. Pharmacoeconomics. 2023. PMID: 37029233 Review.
A Deep Invertible 3-D Facial Shape Model for Interpretable Genetic Syndrome Diagnosis.
Bannister JJ, Wilms M, Aponte JD, Katz DC, Klein OD, Bernier FPJ, Spritz RA, Hallgrimsson B, Forkert ND. Bannister JJ, et al. Among authors: bernier fpj. IEEE J Biomed Health Inform. 2022 Jul;26(7):3229-3239. doi: 10.1109/JBHI.2022.3164848. Epub 2022 Jul 1. IEEE J Biomed Health Inform. 2022. PMID: 35380975 Free PMC article.
89 results