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Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities.
Li N, Xu Y, Chen H, Lin J, AlAbdi L, Bekheirnia MR, Li G, Gofin Y, Bekheirnia N, Faqeih E, Chen L, Chang G, Tang J, Yao R, Yu T, Wang X, Fu W, Fu Q, Shen Y, Alkuraya FS, Machol K, Wang J. Li N, et al. Among authors: gofin y. EBioMedicine. 2024 Jan;99:104940. doi: 10.1016/j.ebiom.2023.104940. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38154379 Free PMC article.
A familial deletion of 10p12.1 associated with thrombocytopenia.
Manohar S, Gofin Y, Streff H, Vossaert L, Camacho P, Murali CN. Manohar S, et al. Among authors: gofin y. Am J Med Genet A. 2024 Jan;194(1):77-81. doi: 10.1002/ajmg.a.63403. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37746810
The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models.
Rozowsky J, Gao J, Borsari B, Yang YT, Galeev T, Gürsoy G, Epstein CB, Xiong K, Xu J, Li T, Liu J, Yu K, Berthel A, Chen Z, Navarro F, Sun MS, Wright J, Chang J, Cameron CJF, Shoresh N, Gaskell E, Drenkow J, Adrian J, Aganezov S, Aguet F, Balderrama-Gutierrez G, Banskota S, Corona GB, Chee S, Chhetri SB, Cortez Martins GC, Danyko C, Davis CA, Farid D, Farrell NP, Gabdank I, Gofin Y, Gorkin DU, Gu M, Hecht V, Hitz BC, Issner R, Jiang Y, Kirsche M, Kong X, Lam BR, Li S, Li B, Li X, Lin KZ, Luo R, Mackiewicz M, Meng R, Moore JE, Mudge J, Nelson N, Nusbaum C, Popov I, Pratt HE, Qiu Y, Ramakrishnan S, Raymond J, Salichos L, Scavelli A, Schreiber JM, Sedlazeck FJ, See LH, Sherman RM, Shi X, Shi M, Sloan CA, Strattan JS, Tan Z, Tanaka FY, Vlasova A, Wang J, Werner J, Williams B, Xu M, Yan C, Yu L, Zaleski C, Zhang J, Ardlie K, Cherry JM, Mendenhall EM, Noble WS, Weng Z, Levine ME, Dobin A, Wold B, Mortazavi A, Ren B, Gillis J, Myers RM, Snyder MP, Choudhary J, Milosavljevic A, Schatz MC, Bernstein BE, Guigó R, Gingeras TR, Gerstein M. Rozowsky J, et al. Among authors: gofin y. Cell. 2023 Mar 30;186(7):1493-1511.e40. doi: 10.1016/j.cell.2023.02.018. Cell. 2023. PMID: 37001506 Free PMC article.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, Samaco RC, Elsea S, Thorpe E, Kesari A, Perry D, Lee B, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC; Undiagnosed Diseases Network. Keehan L, et al. Among authors: gofin y. Am J Med Genet A. 2022 Dec;188(12):3516-3524. doi: 10.1002/ajmg.a.62940. Epub 2022 Aug 7. Am J Med Genet A. 2022. PMID: 35934918 Free PMC article.
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, DiTroia S, VanNoy GE, O'Donnell-Luria A, Lalani SR, Graf WD, Rosenfeld JA, Eichler EE, Earl RK, Scott DA. Gofin Y, et al. Hum Mutat. 2022 Apr;43(4):461-470. doi: 10.1002/humu.24332. Epub 2022 Jan 30. Hum Mutat. 2022. PMID: 35094443 Free PMC article.
14 results