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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 8
2004 4
2005 5
2006 5
2007 6
2008 6
2009 9
2010 7
2011 6
2012 4
2013 6
2014 3
2015 4
2016 10
2017 9
2018 5
2019 5
2020 8
2021 5
2022 3
2023 3
2024 1

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109 results

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Page 1
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: spritz ra. 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
Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.
Vanneste M, Hoskens H, Goovaerts S, Matthews H, Aponte JD, Cole J, Shriver M, Marazita ML, Weinberg SM, Walsh S, Richmond S, Klein OD, Spritz RA, Peeters H, Hallgrímsson B, Claes P. Vanneste M, et al. Among authors: spritz ra. bioRxiv [Preprint]. 2023 Dec 8:2023.12.07.570544. doi: 10.1101/2023.12.07.570544. bioRxiv. 2023. PMID: 38106188 Free PMC article. Preprint.
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: spritz ra. 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: spritz ra. 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: spritz ra. 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.
Genome scans of facial features in East Africans and cross-population comparisons reveal novel associations.
Liu C, Lee MK, Naqvi S, Hoskens H, Liu D, White JD, Indencleef K, Matthews H, Eller RJ, Li J, Mohammed J, Swigut T, Richmond S, Manyama M, Hallgrímsson B, Spritz RA, Feingold E, Marazita ML, Wysocka J, Walsh S, Shriver MD, Claes P, Weinberg SM, Shaffer JR. Liu C, et al. Among authors: spritz ra. PLoS Genet. 2021 Aug 19;17(8):e1009695. doi: 10.1371/journal.pgen.1009695. eCollection 2021 Aug. PLoS Genet. 2021. PMID: 34411106 Free PMC article.
Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism.
Matthews HS, Palmer RL, Baynam GS, Quarrell OW, Klein OD, Spritz RA, Hennekam RC, Walsh S, Shriver M, Weinberg SM, Hallgrimsson B, Hammond P, Penington AJ, Peeters H, Claes PD. Matthews HS, et al. Among authors: spritz ra. Sci Rep. 2021 Jun 9;11(1):12175. doi: 10.1038/s41598-021-91465-z. Sci Rep. 2021. PMID: 34108542 Free PMC article.
Genome-wide copy number variations in a large cohort of bantu African children.
Yilmaz F, Null M, Astling D, Yu HC, Cole J, Santorico SA, Hallgrimsson B, Manyama M, Spritz RA, Hendricks AE, Shaikh TH. Yilmaz F, et al. Among authors: spritz ra. BMC Med Genomics. 2021 May 17;14(1):129. doi: 10.1186/s12920-021-00978-z. BMC Med Genomics. 2021. PMID: 34001112 Free PMC article.
109 results