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17 results

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Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.
Tenney AP, Di Gioia SA, Webb BD, Chan WM, de Boer E, Garnai SJ, Barry BJ, Ray T, Kosicki M, Robson CD, Zhang Z, Collins TE, Gelber A, Pratt BM, Fujiwara Y, Varshney A, Lek M, Warburton PE, Van Ryzin C, Lehky TJ, Zalewski C, King KA, Brewer CC, Thurm A, Snow J, Facio FM, Narisu N, Bonnycastle LL, Swift A, Chines PS, Bell JL, Mohan S, Whitman MC, Staffieri SE, Elder JE, Demer JL, Torres A, Rachid E, Al-Haddad C, Boustany RM, Mackey DA, Brady AF, Fenollar-Cortés M, Fradin M, Kleefstra T, Padberg GW, Raskin S, Sato MT, Orkin SH, Parker SCJ, Hadlock TA, Vissers LELM, van Bokhoven H, Jabs EW, Collins FS, Pennacchio LA, Manoli I, Engle EC. Tenney AP, et al. Among authors: kosicki m. Nat Genet. 2023 Jul;55(7):1149-1163. doi: 10.1038/s41588-023-01424-9. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386251 Free PMC article.
Inter-homologue repair in fertilized human eggs?
Egli D, Zuccaro MV, Kosicki M, Church GM, Bradley A, Jasin M. Egli D, et al. Among authors: kosicki m. Nature. 2018 Aug;560(7717):E5-E7. doi: 10.1038/s41586-018-0379-5. Epub 2018 Aug 8. Nature. 2018. PMID: 30089924 No abstract available.
Genome-wide fetalization of enhancer architecture in heart disease.
Spurrell CH, Barozzi I, Kosicki M, Mannion BJ, Blow MJ, Fukuda-Yuzawa Y, Slaven N, Afzal SY, Akiyama JA, Afzal V, Tran S, Plajzer-Frick I, Novak CS, Kato M, Lee EA, Garvin TH, Pham QT, Kronshage AN, Lisgo S, Bristow J, Cappola TP, Morley MP, Margulies KB, Pennacchio LA, Dickel DE, Visel A. Spurrell CH, et al. Among authors: kosicki m. Cell Rep. 2022 Sep 20;40(12):111400. doi: 10.1016/j.celrep.2022.111400. Cell Rep. 2022. PMID: 36130500 Free PMC article.
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: kosicki m. Nat Commun. 2024 Mar 6;15(1):2030. doi: 10.1038/s41467-024-46396-4. Nat Commun. 2024. PMID: 38448444 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: kosicki m. bioRxiv [Preprint]. 2023 Jun 26:2023.06.26.546603. doi: 10.1101/2023.06.26.546603. bioRxiv. 2023. PMID: 37425964 Free PMC article. Preprint.
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders.
Lee AS, Ayers LJ, Kosicki M, Chan WM, Fozo LN, Pratt BM, Collins TE, Zhao B, Rose MF, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Tenney AP, Lee C, Laricchia KM, Barry BJ, Bradford VR, Lek M, MacArthur DG, Lee EA, Talkowski ME, Brand H, Pennacchio LA, Engle EC. Lee AS, et al. Among authors: kosicki m. medRxiv [Preprint]. 2023 Dec 27:2023.12.22.23300468. doi: 10.1101/2023.12.22.23300468. medRxiv. 2023. PMID: 38234731 Free PMC article. Preprint.
Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.
Shin T, Song JHT, Kosicki M, Kenny C, Beck SG, Kelley L, Qian X, Bonacina J, Papandile F, Antony I, Gonzalez D, Scotellaro J, Bushinsky EM, Andersen RE, Maury E, Pennacchio LA, Doan RN, Walsh CA. Shin T, et al. Among authors: kosicki m. medRxiv [Preprint]. 2023 Sep 22:2023.09.19.23295780. doi: 10.1101/2023.09.19.23295780. medRxiv. 2023. PMID: 37790480 Free PMC article. Preprint.
17 results