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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.
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.
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Nellåker C, Alkuraya FS, Baynam G, Bernier RA, Bernier FPJ, Boulanger V, Brudno M, Brunner HG, Clayton-Smith J, Cogné B, Dawkins HJS, deVries BBA, Douzgou S, Dudding-Byth T, Eichler EE, Ferlaino M, Fieggen K, Firth HV, FitzPatrick DR, Gration D, Groza T, Haendel M, Hallowell N, Hamosh A, Hehir-Kwa J, Hitz MP, Hughes M, Kini U, Kleefstra T, Kooy RF, Krawitz P, Küry S, Lees M, Lyon GJ, Lyonnet S, Marcadier JL, Meyn S, Moslerová V, Politei JM, Poulton CC, Raymond FL, Reijnders MRF, Robinson PN, Romano C, Rose CM, Sainsbury DCG, Schofield L, Sutton VR, Turnovec M, Van Dijck A, Van Esch H, Wilkie AOM; Minerva Consortium. Nellåker C, et al. Among authors: bernier fpj. Front Genet. 2019 Jul 29;10:611. doi: 10.3389/fgene.2019.00611. eCollection 2019. Front Genet. 2019. PMID: 31417602 Free PMC article.