Author

Isabel López

Clínica Las Condes

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Andrew C. LiuiD· 1 shared Carlos Enrique PradaiD· 1 shared Carolyn R. Serbinski· 1 shared Darcy A. KruegeriD· 1 shared David F. SmithiD· 1 shared Destino Roman· 1 shared Hongzhi He· 1 shared John B. HogeneschiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrew C. LiuORCID

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1 paper

Recent·Most cited

Detailed Clinical and Functional Studies of New MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian and Sleep Homeostasis

Andrew C. Liu, Yang Shen, Destino Roman, Hongzhi He, Carolyn R. Serbinski, Lindsey Aschbacher‐Smith, Katherine A. King, Jorge Luis Granadillo, Isabel López, Darcy A. Krueger, Thomas J. Dye, David F. Smith, John B. Hogenesch, Carlos Enrique Prada

This study identifies new MTOR variants in Smith-Kingsmore Syndrome, reveals circadian and sleep deficits, and shows rapamycin treatment can improve symptoms.

medRxiv · Feb 15, 2022 · PreprintGenetic & Genomic Medicine