Listar Papers publicados por CBI por autor "Valdivia, Leonardo E. [Univ Mayor, Fac Ciencias, Ctr Integrat Biol, Santiago, Chile]"
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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
Valdivia, Leonardo E. [Univ Mayor, Fac Ciencias, Ctr Integrat Biol, Santiago, Chile]; Turner, Katherine J.; Hoyle, Jacqueline; Cerveny, Kara L.; Hart, Wendy; Mangoli, Maryam; Geisler, Robert; Rees, Michele; Houart, Corinne; Poole, Richard J.; Wilson, Stephen W.; Gestri, Gaia (PUBLIC LIBRARY SCIENCE, 2019)Through forward genetic screening for mutations affecting visual system development, we identified prominent coloboma and cell-autonomous retinal neuron differentiation, lamination and retinal axon projection defects in ... -
The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders
Valdivia, Leonardo E. [Univ Mayor, Fac Ciencias, Ctr Integrat Biol, Santiago, Chile]; Patel, Aara; Hayward, Jane D.; Tailor, Vijay; Nyanhete, Rodney; Ahlfors, Helena; Gabriel, Camila; Jannini, Tommaso B.; Abbou-Rayyah, Yassir; Henderson, Robert; Nischal, Ken K.; Islam, Lily; Bitner-Glindzicz, Maria; Hurst, Jane; Zanolli, Mario; Moosajee, Mariya; Brookes, John; Papadopoulos, Maria; Khaw, Peng T.; Cullup, Thomas; Jenkins, Lucy; Dahlmann-Noor, Annegret; Sowden, Jane C. (ELSEVIER SCIENCE INC, 2019)Purpose: To develop a comprehensive next-generation sequencing panel assay that screens genes known to cause developmental eye disorders and inherited eye disease and to evaluate its diagnostic yield in a pediatric cohort ...