The trusted data resource for craniofacial researchers worldwide
FaceBase is a
collaborative NIDCR-funded project
.
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News
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10/08/2024 -
Save the Date: 2025 FaceBase Community Forum
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08/05/2024 -
Upcoming NIH Data Reuse Seminar Featuring FaceBase - Aug 9, 2024
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07/01/2024 -
FaceBase Virtual Bootcamp: Users and Data Submitters
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06/18/2024 -
Summary and Public Materials from the 2024 FaceBase Forum
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04/08/2024 -
FaceBase posters at Ostrow School of Dentistry Research Day
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03/27/2024 -
Registration is open for the FaceBase Forum on Tues & Wed, May 7 & 8!
Publications
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Guo, Tingwei; Pei, Fei; Zhang, Mingyi; Yamada, Takahiko; Feng, Jifan; Jing, Junjun; Ho, Thach-Vu; Chai, Yang. Cell Stem Cell. vol. 31(6), 904–920.e6. June 2024.
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Dynamic enhancer landscapes in human craniofacial development
Rajderkar, Sudha Sunil; Paraiso, Kitt; Amaral, Maria Luisa; Kosicki, Michael; Cook, Laura E.; Darbellay, Fabrice; Spurrell, Cailyn H.; Osterwalder, Marco; Zhu, Yiwen; Wu, Han; Afzal, Sarah Yasmeen; Blow, Matthew J.; Kelman, Guy; Barozzi, Iros; Fukuda-Yuzawa, Yoko; Akiyama, Jennifer A.; Afzal, Veena; Tran, Stella; Plajzer-Frick, Ingrid; Novak, Catherine S.; Kato, Momoe; Hunter, Riana D.; Von Maydell, Kianna; Wang, Allen; Lin, Lin; Preissl, Sebastian; Lisgo, Steven; Ren, Bing; Dickel, Diane E.; Pennacchio, Len A.; Visel, Axel. Nature Communications. vol. 15(1), 2030. March 2024.
The genetic basis of human facial variation and craniofacial birth defects remains poorly understood. Distant-acting transcriptional enhancers control the fine-tuned spatiotemporal expression of genes during critical stages of craniofacial development. However, a lack of accurate maps of the genomic locations and cell type-resolved activities of craniofacial enhancers prevents their systematic exploration in human genetics studies. Here, we combine histone modification, chromatin accessibility, and gene expression profiling of human craniofacial development with single-cell analyses of the developing mouse face to define the regulatory landscape of facial development at tissue- and single cell-resolution. We provide temporal activity profiles for 14,000 human developmental craniofacial enhancers. We find that 56% of human craniofacial enhancers share chromatin accessibility in the mouse and we provide cell population- and embryonic stage-resolved predictions of their in vivo activity. Taken together, our data provide an expansive resource for genetic and developmental studies of human craniofacial development.
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Comparing 2D and 3D representations for face-based genetic syndrome diagnosis
Bannister, Jordan J.; Wilms, Matthias; Aponte, J. David; Katz, David C.; Klein, Ophir D.; Bernier, Francois P.; Spritz, Richard A.; Hallgrímsson, Benedikt; Forkert, Nils D.. European Journal of Human Genetics. vol. 31(9), 1010–1016. September 2023.