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Zebrafish models of human eye and inner ear diseases.
Blanco-Sánchez B, Clément A, Phillips JB, Westerfield M. Blanco-Sánchez B, et al. Among authors: phillips jb. Methods Cell Biol. 2017;138:415-467. doi: 10.1016/bs.mcb.2016.10.006. Epub 2016 Nov 23. Methods Cell Biol. 2017. PMID: 28129854 Review.
Usherin defects lead to early-onset retinal dysfunction in zebrafish.
Dona M, Slijkerman R, Lerner K, Broekman S, Wegner J, Howat T, Peters T, Hetterschijt L, Boon N, de Vrieze E, Sorusch N, Wolfrum U, Kremer H, Neuhauss S, Zang J, Kamermans M, Westerfield M, Phillips J, van Wijk E. Dona M, et al. Exp Eye Res. 2018 Aug;173:148-159. doi: 10.1016/j.exer.2018.05.015. Epub 2018 May 16. Exp Eye Res. 2018. PMID: 29777677 Free PMC article.
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. Elsayed SM, et al. Among authors: phillips jb. Hum Mol Genet. 2015 May 1;24(9):2594-603. doi: 10.1093/hmg/ddv022. Epub 2015 Jan 23. Hum Mol Genet. 2015. PMID: 25616960 Free PMC article.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Burrage LC, et al. Among authors: phillips jb. Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773277 Free PMC article.
A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs.
Yan YL, Titus T, Desvignes T, BreMiller R, Batzel P, Sydes J, Farnsworth D, Dillon D, Wegner J, Phillips JB, Peirce J, Dowd J; Undiagnosed Diseases Network; Buck CL, Miller A, Westerfield M, Postlethwait JH. Yan YL, et al. Among authors: phillips jb. Genetics. 2021 Feb 9;217(2):iyaa030. doi: 10.1093/genetics/iyaa030. Genetics. 2021. PMID: 33724412 Free PMC article.
244 results