High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development

Cited by (140)

Items 101–140 of 140

1. Genetic regulation of ARID3B confers cleft lip with/without cleft palate susceptibility through LLPS-mediated transcriptional program
   Xiaofeng Li, Dandan Li, Shu Lou, Junyan Lin, Yue Gao, Barbara Vona, Congbo Mi, Lin Wang, Lan Ma, Mulong Du et al. · 2025 · Cell Reports
2. Allele-specific transcription factor binding in a cellular model of orofacial clefting
   Katharina L. M. Ruff, Ronja Hollstein, Julia Fazaal, Frederic Thieme, Jan Gehlen, Elisabeth Mangold, Michael Knapp, Julia Welzenbach, Kerstin U. Ludwig · 2022 · Scientific Reports
3. Functional variant at 19q13.3 confers nonsyndromic cleft palate susceptibility by regulating HIF3A
   Shu Lou, Ziyue Miao, Xiaofeng Li, Lan Ma, Dandan Li, Mulong Du, Lin Wang, Yongchu Pan · 2025 · iScience
4. Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate
   Sarah W. Curtis, Laura Cook, Kitt D. Paraiso, Axel Visel, Justin L. Cotney, Jeffrey Clark Murray, Terri H. Beaty, Mary L. Marazita, Jenna C. Carlson, Elizabeth J. Leslie · 2025 · Birth Defects Research
5. Variants Near NOG and SOX9 Are Associated with Mandibular Retrognathia
   Emma Juuri, Satu J. Strausz, Md Rakibul Hasan, M. Hongqiang, THORBJÖRN JÓNSSON, Á. Thordarsson, Gunnar Auðólfsson, Daniel Fannar Gudbjartsson, Hreinn Stefánsson, Pekka Nieminen et al. · 2025 · Journal of Dental Research
6. The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts
   Haolang Zhao, Si-Di Zhang, Haoyun Zhu, Zhonglin Jia · 2026 · Genetics Research
7. Fundamental Mechanisms of Orofacial Clefts
   Michael A. Garland, Kurt Reynolds, Shuwen Zhang, Bo Hang Sun, Rebecca De Frates, Chengji J. Zhou · 2021 · Springer eBooks
8. Genetic variants in Mammalian STE20-like protein kinase 2 were associated with risk of NSCL/P
   Xinze Xu, Junyan Lin, Xiaofeng Li, Qinghua Shao, Xing Cui, Guirong Zhu, Shu Lou, Weijie Zhong, Luwei Liu, Yongchu Pan · 2023 · Gene
9. The Functional Impact of the Noncoding SNP rs3741442 on Orofacial Clefting
   Noriko Funato, Stephen R.F. Twigg · 2025 · Journal of Dental Research
10. Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis
    Xiaopeng Xu, Qi Chen, Qingpei Huang, Timothy C. Cox, Hao‐Jie Zhu, Jintian Hu, Xi Han, Ziqiu Meng, Bingqing Wang, Zhiying Liao et al. · 2025 · Nature Communications
11. Shared heritability of face and brain shape distinct from cognitive traits
    Sahin Naqvi, Yoeri Sleyp, Hanne Hoskens, Karlijne Indencleef, Jeffrey P. Spence, Rose Bruffaerts, Ahmed Radwan, Ryan Jospeh Eller, Stephen Richmond, Mark D. Shriver et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
12. “Integration of multimodal data in the developing tooth reveals candidate dental disease genes”
    Emma Wentworth Winchester, Alexis Hardy, Justin L. Cotney · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
13. Dysregulation in Spatiotemporal Expression of HMX1 Coordinated by Multifaceted Enhancers Drives an Auricular Disorder
    Xiaopeng Xu, Qi Chen, Qingpei Huang, Timothy C. Cox, Hao Zhu, Jintian Hu, Xi Han, Ziqiu Meng, Bingqing Wang, Zhiying Liao et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
14. High incidence and geographic distribution of cleft palate cases in Finland are associated with a regulatory variant in IRF6
    Fedik Rahimov, Pekka Nieminen, Priyanka Kumari, Emma Juuri, Tiit Nikopensius, Kitt D. Paraiso, Jakob German, Antti Karvanen, Mart Kals, Abdelrahman G. Elnahas et al. · 2024 · medRxiv
15. The epigenomic landscape regulating organogenesis in human embryos linked to developmental disorders
    Dave T. Gerrard, Andrew A. Berry, Rachel E. Jennings, Matthew J. Birket, Sarah Withey, Patrick Short, Sandra Jiménez-Gancedo, Panos Firbas, Ian J. Donaldson, Andrew D Sharrocks et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
16. Structural variation in genomes and its role in disease
    Judith M. Vlaar · 2021
17. Faculty Opinions recommendation of Insights into the genetic architecture of the human face.
    Ulf Pettersson · 2021 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
18. Evolution of genome wide approaches to unveil transcriptional networks
    Ngai Ting Chan, Wei Xu · 2023 · Elsevier eBooks
19. CHIP-seq: The evolution of genome-wide approaches to unveil the transcriptional network
    Ngai Ting Chan, Wei Xu · 2023 · Elsevier eBooks
20. A novel DOCK7 variant as a rare reason for epileptic encephalopathy, cortical blindness, dysmorphic features: A case report and brief review of the literature
    Özlem Özsoy, Tayfun Çinleti, Selcan Zeybek, Didem Soydemir, Gamze Sarıkaya Uzan, Çağatay Günay, Semra Hız Kurul, Uluç Yiş · 2023 · Neurology Asia
21. Helping Children and Their Families with Facial Differences – Patient Centered Outcomes and Experiences
    Eleftherios G. Kaklamanos · 2024 · Wiley eBooks
22. Variants in CALD1 , ESRP1 , and RBFOX1 are associated with orofacial cleft risk
    Jenna C. Carlson, Xinyi Zhang, Zeynep Erdogan-Yildirim, Terri H. Beaty, Azeez Butali, Carmen J. Buxó, Lord Jephthah Joojo Gowans, Jacqueline T. Hecht, Ross E. Long, Lina Johanna Moreno et al. · 2025 · medRxiv
23. The epigenetic constellation of neurodevelopment disorders
    Ramón Cacabelos · 2025 · Elsevier eBooks
24. Gain-of-function mutant p53 regulates long-noncoding RNA LINC00643 to modulate HIF1α in glioblastoma
    Ying Zhang, Fang Yuan, Myron Keith Gibert, Collin Dube, Kadie Hudson, Cassandra Grello, Brian J. Reon, Shekhar Saha, Yunan Sun, Pawel Marcinkiewicz et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
25. Uncovering the Genetic Architecture of NSCPO in Chinese via Subtype GWAS
    Yue You, Yan Li, S. Zhang, M. Yao, Jialin Sun, Huan Liu, Bing Shi, Ziqi Jia · 2025 · Journal of Dental Research
26. Integrative omics analyses identified a damaging protein–altering variant in KIF1B contributing to the risk of craniofacial microsomia
    Waheed A. Awotoye, Pedro Alfonso Sanchez-Lara, Stephen L.-K. Yen, Emily Farrow, Huojun Cao, Aline Lourenço Petrin, Lina M. Moreno Uribe, Veerasathpurush Allareddy, Shankar Rengasamy Venugopalan · 2025 · Seminars in Orthodontics
27. Integrative multiomic analysis on single-nucleotide variants identifies candidate genes for human craniofacial malformation
    Ming Ho Yam, Karl Kam Hei So, Ka Kui Tong, Kwong Wai Choy, Mai Har Sham · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
28. A non-coding variant at 2p24.2 confers susceptibility to non-syndromic cleft lip and palate through LLPS-dependent regulation of MYCN
    Zhaoyi Wu, Zhiying Yuan, Ruihuan Yang, Zhuo Huang, Yiwei Liu, Liangdan Sun, Z. Bian, Miao He · 2026 · medRxiv
29. Epigenetic Signatures in Monozygotic and Dizygotic Twins Discordant for Orofacial Clefts
    Aline Lourenço Petrin, Henry L. Keen, Lindsey Dunlay, Xian J Xie, Erliang Zeng, Azeez Butali, Allen James Wilcox, Mary L. Marazita, Jeffrey W. Murray, Lina M. Moreno Uribe · 2026 · medRxiv
30. Genetic variation near ROBO1 is associated with craniofacial microsomia and related phenotypes in the Finnish population
    Laura Kaprio, Anu Kiukkonen, Emma Juuri, David P. C. Rice, Hanna Maria Ollila, Satu J. Strausz · 2026 · Human Molecular Genetics
31. Trends in craniofacial organ development and regeneration: From the single-cell and spatial transcriptomics perspective
    Dongling Wang, Xutong Zhu, Ning Hu, Bei Wu, Yuyang Dong, Yeqing Song, Xiaoqing Li, Zhi Wang, Zujun Huang, Yina Li et al. · 2026 · Genes & Diseases
32. Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology
    Aline Lourenço Petrin, Ligiane Alves Machado‐Paula, Julia Romanowska, RT Lie, L Hovey, B Doolittle, Waheed A. Awotoye, L Dunlay, XJ Xie, Erliang Zeng et al. · 2026 · Molecular Genetics and Genomics
33. Genetic and epigenetic contributors to cleft laterality: evidence from monozygotic mirror twins and replication cohorts
    Aline Lourenço Petrin, Waheed A. Awotoye, Christina Spencer, Ligiane Alves Machado‐Paula, Luke Hovey, Henry Keen, Michael S. Chimenti, Patrick John Breheny, Fang Qian, Shareef M. Dabdoub et al. · 2026 · Human Molecular Genetics
34. Atlas of cell types and regulatory elements underlying human facial diversity
    Alek G. Erickson, Yaakov Gershtein, Rozalina Galimullina, Felix Waern, Tonyak Riba, Markéta Tesařová, Daniela Schnyder, Lei Li, Nikita Vaulin, Saga Samuelsson et al. · 2026 · Nature Genetics
35. Human facial development atlas illuminates enhancer-based control of facial individuality
    2026 · Nature Genetics
36. Whole Genome Sequencing of Discordant Monozygotic Twins Reveals Regulatory Variants Associated With Nonsyndromic Orofacial Clefts
    Emmanuel Aladenika, Mojisola Olujitan, Tamara D. Busch, Lord Jephthah Joojo Gowans, Wasiu Adeyemo, Adegbayi Adeola Adekunle, Mekonen A. Eshete, Oluwafunmi Ajala, Rishitha Gadde, Nina Mba et al. · 2026 · Human Mutation
37. Craniofacial development: genetics, signaling pathways, teratogenic mechanisms, and clinal significance
    Xinli Lv, Juan Du · 2026 · Molecular Biomedicine
38. Genetic Heterogeneity in Cleft Lip and/or Palate With Alveolar Cleft: A Targeted Analysis of NHEK-Active Enhancer Variants
    Yan Chen, Lingfeng Luo, Wenguang Tang, Lixian Chen, Yang Li, Chenghao Li, Bing Shi, Zhonglin Jia · 2026 · The Cleft Palate-Craniofacial Journal
39. Identification of human tooth germ ectomesenchymal stem cells
    Yejia Yu, Kun Wang, Zhuo Wang, Jing Fu, Hang Ci, Chengcheng Liao, Yueqi Shi, Xiaoxia Su, Yanping Sun, Yun Lyu et al. · 2026 · Stem Cell Reports
40. Euro_Latino_GMKF_summary_stats
    Nandita Mukhopadhyay · 2025 · Harvard Dataverse