The Future of Genetic Disease Studies: Assembling an Updated Multidisciplinary Toolbox

by Swetha Ramadesikan, Jennifer Lee, Ruben Claudio Aguilar
Published 2022-04-01

Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex.

by Wen-Chieh Hsieh, Swetha Ramadesikan, Donna Fekete, Ruben Claudio Aguilar
Published 2018-01-01

Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes

by Jennifer J. Lee, Swetha Ramadesikan, Adrianna F. Black, Charles Christoffer, Andres F. Pacheco Pacheco, Sneha Subramanian, Claudia B. Hanna, Gillian Barth, Cynthia V. Stauffacher, Daisuke Kihara, Ruben Claudio Aguilar
Published 2023-03-01

P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders

by Swetha Ramadesikan, Caitlyn Colwell, Mohammad Marhabaie, Leeran Dublin-Ryan, Iftekhar Showpnil, Umamaheswaran Gurusamy, Jesse Hunter, Allison Daley, Elizabeth Varga, Marco Leung, Rolf Stottmann, Bimal Chaudhari, Scott Hickey, Peter White, Daniel Koboldt, Richard Wilson
Published 2024-01-01

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

by Umamaheswaran Gurusamy, Swetha Ramadesikan, Mohammad Marhabaie, Caitlyn M. Colwell, Jesse M. Hunter, Jesse M. Hunter, Jesse M. Hunter, Marco L. Leung, Marco L. Leung, Marco L. Leung, Elaine R. Mardis, Elaine R. Mardis, Peter White, Peter White, Murugu Manickam, Murugu Manickam, Richard K. Wilson, Richard K. Wilson, Daniel C. Koboldt, Daniel C. Koboldt
Published 2024-01-01