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2005 1
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The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, Moosajee M, Brookes J, Papadopoulos M, Khaw PT, Cullup T, Jenkins L, Dahlmann-Noor A, Sowden JC. Patel A, et al. Among authors: valdivia le. Ophthalmology. 2019 Jun;126(6):888-907. doi: 10.1016/j.ophtha.2018.12.050. Epub 2019 Jan 14. Ophthalmology. 2019. PMID: 30653986
Watching eyes take shape.
Bazin-Lopez N, Valdivia LE, Wilson SW, Gestri G. Bazin-Lopez N, et al. Among authors: valdivia le. Curr Opin Genet Dev. 2015 Jun;32:73-9. doi: 10.1016/j.gde.2015.02.004. Epub 2015 Mar 3. Curr Opin Genet Dev. 2015. PMID: 25748250 Free PMC article. Review.
Fishing forward and reverse: Advances in zebrafish phenomics.
Fuentes R, Letelier J, Tajer B, Valdivia LE, Mullins MC. Fuentes R, et al. Among authors: valdivia le. Mech Dev. 2018 Dec;154:296-308. doi: 10.1016/j.mod.2018.08.007. Epub 2018 Aug 18. Mech Dev. 2018. PMID: 30130581 Free PMC article. Review.
Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance deficits.
Turner KJ, Hoyle J, Valdivia LE, Cerveny KL, Hart W, Mangoli M, Geisler R, Rees M, Houart C, Poole RJ, Wilson SW, Gestri G. Turner KJ, et al. Among authors: valdivia le. PLoS One. 2019 Jan 29;14(1):e0211073. doi: 10.1371/journal.pone.0211073. eCollection 2019. PLoS One. 2019. PMID: 30695021 Free PMC article.
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Tuschl K, et al. Among authors: valdivia le. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.
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