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124 results

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Page 1
Dynamic enhancer landscapes in human craniofacial development.
Rajderkar SS, Paraiso K, Amaral ML, Kosicki M, Cook LE, Darbellay F, Spurrell CH, Osterwalder M, Zhu Y, Wu H, Afzal SY, Blow MJ, Kelman G, Barozzi I, Fukuda-Yuzawa Y, Akiyama JA, Afzal V, Tran S, Plajzer-Frick I, Novak CS, Kato M, Hunter RD, von Maydell K, Wang A, Lin L, Preissl S, Lisgo S, Ren B, Dickel DE, Pennacchio LA, Visel A. Rajderkar SS, et al. Among authors: hunter rd. Nat Commun. 2024 Mar 6;15(1):2030. doi: 10.1038/s41467-024-46396-4. Nat Commun. 2024. PMID: 38448444 Free PMC article.
Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.
Kvon EZ, Zhu Y, Kelman G, Novak CS, Plajzer-Frick I, Kato M, Garvin TH, Pham Q, Harrington AN, Hunter RD, Godoy J, Meky EM, Akiyama JA, Afzal V, Tran S, Escande F, Gilbert-Dussardier B, Jean-Marçais N, Hudaiberdiev S, Ovcharenko I, Dobbs MB, Gurnett CA, Manouvrier-Hanu S, Petit F, Visel A, Dickel DE, Pennacchio LA. Kvon EZ, et al. Among authors: hunter rd. Cell. 2020 Mar 19;180(6):1262-1271.e15. doi: 10.1016/j.cell.2020.02.031. Epub 2020 Mar 12. Cell. 2020. PMID: 32169219 Free PMC article.
Ultraconserved enhancer function does not require perfect sequence conservation.
Snetkova V, Ypsilanti AR, Akiyama JA, Mannion BJ, Plajzer-Frick I, Novak CS, Harrington AN, Pham QT, Kato M, Zhu Y, Godoy J, Meky E, Hunter RD, Shi M, Kvon EZ, Afzal V, Tran S, Rubenstein JLR, Visel A, Pennacchio LA, Dickel DE. Snetkova V, et al. Among authors: hunter rd. Nat Genet. 2021 Apr;53(4):521-528. doi: 10.1038/s41588-021-00812-3. Epub 2021 Mar 29. Nat Genet. 2021. PMID: 33782603 Free PMC article.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K, Audebert-Bellanger S, Le Marechal C, Férec C, Efthymiou S, Rahman F, Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G, Abhyankar A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E, Stong N, Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA, Zody MC, Turner TN. Padhi EM, et al. Among authors: hunter rd. Hum Genomics. 2021 Jul 13;15(1):44. doi: 10.1186/s40246-021-00342-3. Hum Genomics. 2021. PMID: 34256850 Free PMC article.
Topologically associating domain boundaries are required for normal genome function.
Rajderkar S, Barozzi I, Zhu Y, Hu R, Zhang Y, Li B, Alcaina Caro A, Fukuda-Yuzawa Y, Kelman G, Akeza A, Blow MJ, Pham Q, Harrington AN, Godoy J, Meky EM, von Maydell K, Hunter RD, Akiyama JA, Novak CS, Plajzer-Frick I, Afzal V, Tran S, Lopez-Rios J, Talkowski ME, Lloyd KCK, Ren B, Dickel DE, Visel A, Pennacchio LA. Rajderkar S, et al. Among authors: hunter rd. Commun Biol. 2023 Apr 20;6(1):435. doi: 10.1038/s42003-023-04819-w. Commun Biol. 2023. PMID: 37081156 Free PMC article.
Cell Type- and Tissue-specific Enhancers in Craniofacial Development.
Rajderkar SS, Paraiso K, Amaral ML, Kosicki M, Cook LE, Darbellay F, Spurrell CH, Osterwalder M, Zhu Y, Wu H, Afzal SY, Blow MJ, Kelman G, Barozzi I, Fukuda-Yuzawa Y, Akiyama JA, Afzal V, Tran S, Plajzer-Frick I, Novak CS, Kato M, Hunter RD, von Maydell K, Wang A, Lin L, Preissl S, Lisgo S, Ren B, Dickel DE, Pennacchio LA, Visel A. Rajderkar SS, et al. Among authors: hunter rd. bioRxiv [Preprint]. 2023 Jun 26:2023.06.26.546603. doi: 10.1101/2023.06.26.546603. bioRxiv. 2023. PMID: 37425964 Free PMC article. Preprint.
Massively parallel reporter assays and mouse transgenic assays provide complementary information about neuronal enhancer activity.
Kosicki M, Cintrón DL, Page NF, Georgakopoulos-Soares I, Akiyama JA, Plajzer-Frick I, Novak CS, Kato M, Hunter RD, von Maydell K, Barton S, Godfrey P, Beckman E, Sanders SJ, Pennacchio LA, Ahituv N. Kosicki M, et al. Among authors: hunter rd. bioRxiv [Preprint]. 2024 Apr 23:2024.04.22.590634. doi: 10.1101/2024.04.22.590634. bioRxiv. 2024. PMID: 38712228 Free PMC article. Preprint.
Mutagenesis Sensitivity Mapping of Human Enhancers In Vivo.
Kosicki M, Zhang B, Pampari A, Akiyama JA, Plajzer-Frick I, Novak CS, Tran S, Zhu Y, Kato M, Hunter RD, von Maydell K, Barton S, Beckman E, Kundaje A, Dickel DE, Visel A, Pennacchio LA. Kosicki M, et al. Among authors: hunter rd. bioRxiv [Preprint]. 2024 Sep 8:2024.09.06.611737. doi: 10.1101/2024.09.06.611737. bioRxiv. 2024. PMID: 39282388 Free PMC article. Preprint.
A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival.
Abassah-Oppong S, Zoia M, Mannion BJ, Rouco R, Tissières V, Spurrell CH, Roland V, Darbellay F, Itum A, Gamart J, Festa-Daroux TA, Sullivan CS, Kosicki M, Rodríguez-Carballo E, Fukuda-Yuzawa Y, Hunter RD, Novak CS, Plajzer-Frick I, Tran S, Akiyama JA, Dickel DE, Lopez-Rios J, Barozzi I, Andrey G, Visel A, Pennacchio LA, Cobb J, Osterwalder M. Abassah-Oppong S, et al. Among authors: hunter rd. Nat Commun. 2024 Oct 10;15(1):8793. doi: 10.1038/s41467-024-53009-7. Nat Commun. 2024. PMID: 39389973 Free PMC article.
124 results