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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.
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. 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
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. 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. 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.
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.