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232 results

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Page 1
Human Facial Shape and Size Heritability and Genetic Correlations.
Cole JB, Manyama M, Larson JR, Liberton DK, Ferrara TM, Riccardi SL, Li M, Mio W, Klein OD, Santorico SA, Hallgrímsson B, Spritz RA. Cole JB, et al. Among authors: spritz ra. Genetics. 2017 Feb;205(2):967-978. doi: 10.1534/genetics.116.193185. Epub 2016 Dec 14. Genetics. 2017. PMID: 27974501 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 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.
Refining nosology by modelling variation among facial phenotypes: the RASopathies.
Matthews H, Vanneste M, Katsura K, Aponte D, Patton M, Hammond P, Baynam G, Spritz R, Klein OD, Hallgrimsson B, Peeters H, Claes P. Matthews H, et al. J Med Genet. 2022 Jul 20:jmedgenet-2021-108366. doi: 10.1136/jmedgenet-2021-108366. Online ahead of print. J Med Genet. 2022. PMID: 35858754 Free PMC article.
Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.
Goodwin AF, Larson JR, Jones KB, Liberton DK, Landan M, Wang Z, Boekelheide A, Langham M, Mushegyan V, Oberoi S, Brao R, Wen T, Johnson R, Huttner K, Grange DK, Spritz RA, Hallgrímsson B, Jheon AH, Klein OD. Goodwin AF, et al. Among authors: spritz ra. Mol Genet Genomic Med. 2014 Sep;2(5):422-9. doi: 10.1002/mgg3.84. Epub 2014 May 20. Mol Genet Genomic Med. 2014. PMID: 25333067 Free PMC article.
Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape.
Cole JB, Manyama M, Kimwaga E, Mathayo J, Larson JR, Liberton DK, Lukowiak K, Ferrara TM, Riccardi SL, Li M, Mio W, Prochazkova M, Williams T, Li H, Jones KL, Klein OD, Santorico SA, Hallgrimsson B, Spritz RA. Cole JB, et al. Among authors: spritz ra. PLoS Genet. 2016 Aug 25;12(8):e1006174. doi: 10.1371/journal.pgen.1006174. eCollection 2016 Aug. PLoS Genet. 2016. PMID: 27560698 Free PMC article.
Let's face it--complex traits are just not that simple.
Hallgrimsson B, Mio W, Marcucio RS, Spritz R. Hallgrimsson B, et al. PLoS Genet. 2014 Nov 6;10(11):e1004724. doi: 10.1371/journal.pgen.1004724. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25375250 Free PMC article. No abstract available.
Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology.
Shaffer JR, Orlova E, Lee MK, Leslie EJ, Raffensperger ZD, Heike CL, Cunningham ML, Hecht JT, Kau CH, Nidey NL, Moreno LM, Wehby GL, Murray JC, Laurie CA, Laurie CC, Cole J, Ferrara T, Santorico S, Klein O, Mio W, Feingold E, Hallgrimsson B, Spritz RA, Marazita ML, Weinberg SM. Shaffer JR, et al. Among authors: spritz ra. PLoS Genet. 2016 Aug 25;12(8):e1006149. doi: 10.1371/journal.pgen.1006149. eCollection 2016 Aug. PLoS Genet. 2016. PMID: 27560520 Free PMC article.
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: spritz ra. 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.
232 results