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Page 1
Automated syndrome diagnosis by three-dimensional facial imaging.
Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Hallgrímsson B, et al. Among authors: aponte jd. Genet Med. 2020 Oct;22(10):1682-1693. doi: 10.1038/s41436-020-0845-y. Epub 2020 Jun 1. Genet Med. 2020. PMID: 32475986 Free PMC article.
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: aponte jd. 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
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
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: aponte jd. 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: aponte jd. 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.
The Chromatin Regulator Ankrd11 Controls Palate and Cranial Bone Development.
Roth DM, Baddam P, Lin H, Vidal-García M, Aponte JD, De Souza ST, Godziuk D, Watson AES, Footz T, Schachter NF, Egan SE, Hallgrímsson B, Graf D, Voronova A. Roth DM, et al. Front Cell Dev Biol. 2021 Apr 29;9:645386. doi: 10.3389/fcell.2021.645386. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33996804 Free PMC article.
11 results