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Year Number of Results
2016 7
2017 4
2018 4
2019 4
2020 2
2021 1
2022 1
2024 0

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23 results

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Page 1
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. Cell Rep. 2022 Sep 20;40(12):111400. doi: 10.1016/j.celrep.2022.111400. Cell Rep. 2022. PMID: 36130500 Free PMC article.
Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice.
Haigh JL, Adhikari A, Copping NA, Stradleigh T, Wade AA, Catta-Preta R, Su-Feher L, Zdilar I, Morse S, Fenton TA, Nguyen A, Quintero D, Agezew S, Sramek M, Kreun EJ, Carter J, Gompers A, Lambert JT, Canales CP, Pennacchio LA, Visel A, Dickel DE, Silverman JL, Nord AS. Haigh JL, et al. Genome Med. 2021 Apr 26;13(1):69. doi: 10.1186/s13073-021-00884-0. Genome Med. 2021. PMID: 33910599 Free PMC article.
Supervised enhancer prediction with epigenetic pattern recognition and targeted validation.
Sethi A, Gu M, Gumusgoz E, Chan L, Yan KK, Rozowsky J, Barozzi I, Afzal V, Akiyama JA, Plajzer-Frick I, Yan C, Novak CS, Kato M, Garvin TH, Pham Q, Harrington A, Mannion BJ, Lee EA, Fukuda-Yuzawa Y, Visel A, Dickel DE, Yip KY, Sutton R, Pennacchio LA, Gerstein M. Sethi A, et al. Nat Methods. 2020 Aug;17(8):807-814. doi: 10.1038/s41592-020-0907-8. Epub 2020 Jul 29. Nat Methods. 2020. PMID: 32737473 Free PMC article.
Genomic analyses implicate noncoding de novo variants in congenital heart disease.
Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Richter F, et al. Nat Genet. 2020 Aug;52(8):769-777. doi: 10.1038/s41588-020-0652-z. Epub 2020 Jun 29. Nat Genet. 2020. PMID: 32601476 Free PMC article. Clinical Trial.
Noncoding deletions reveal a gene that is critical for intestinal function.
Oz-Levi D, Olender T, Bar-Joseph I, Zhu Y, Marek-Yagel D, Barozzi I, Osterwalder M, Alkelai A, Ruzzo EK, Han Y, Vos ESM, Reznik-Wolf H, Hartman C, Shamir R, Weiss B, Shapiro R, Pode-Shakked B, Tatarskyy P, Milgrom R, Schvimer M, Barshack I, Imai DM, Coleman-Derr D, Dickel DE, Nord AS, Afzal V, van Bueren KL, Barnes RM, Black BL, Mayhew CN, Kuhar MF, Pitstick A, Tekman M, Stanescu HC, Wells JM, Kleta R, de Laat W, Goldstein DB, Pras E, Visel A, Lancet D, Anikster Y, Pennacchio LA. Oz-Levi D, et al. Nature. 2019 Jul;571(7763):107-111. doi: 10.1038/s41586-019-1312-2. Epub 2019 Jun 19. Nature. 2019. PMID: 31217582 Free PMC article.
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis.
Kragesteen BK, Spielmann M, Paliou C, Heinrich V, Schöpflin R, Esposito A, Annunziatella C, Bianco S, Chiariello AM, Jerković I, Harabula I, Guckelberger P, Pechstein M, Wittler L, Chan WL, Franke M, Lupiáñez DG, Kraft K, Timmermann B, Vingron M, Visel A, Nicodemi M, Mundlos S, Andrey G. Kragesteen BK, et al. Nat Genet. 2018 Oct;50(10):1463-1473. doi: 10.1038/s41588-018-0221-x. Epub 2018 Sep 27. Nat Genet. 2018. PMID: 30262816 Free PMC article.
Enhancer redundancy provides phenotypic robustness in mammalian development.
Osterwalder M, Barozzi I, Tissières V, Fukuda-Yuzawa Y, Mannion BJ, Afzal SY, Lee EA, Zhu Y, Plajzer-Frick I, Pickle CS, Kato M, Garvin TH, Pham QT, Harrington AN, Akiyama JA, Afzal V, Lopez-Rios J, Dickel DE, Visel A, Pennacchio LA. Osterwalder M, et al. Nature. 2018 Feb 8;554(7691):239-243. doi: 10.1038/nature25461. Epub 2018 Jan 31. Nature. 2018. PMID: 29420474 Free PMC article.
23 results