René N. Caballero-Florán

Jan 29, 2024 | cell.com | Andrew Nelson |Amanda M. Catalfio |Julie Gupta |Lia Min |René N. Caballero-Florán |Kimberly D Derderian | +7 more

Iossifov I. O'Roak B.J. Sanders S.J. Ronemus M. Krumm N. Levy D. Stessman H.A. Witherspoon K.T. Vives L. Patterson K.E. et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014; 515: 216-221Neale B.M. Kou Y. Liu L. Ma'ayan A. Samocha K.E. Sabo A. Lin C.F. Stevens C. Wang L.S. Makarov V. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012; 485: 242-245O'Roak B.J. Vives L. Fu W. Egertson J.D. Stanaway I.B. Phelps I.G. Carvill G.

Jan 29, 2024 | cell.com | Andrew Nelson |Amanda M. Catalfio |Julie Gupta |Lia Min |René N. Caballero-Florán |Kimberly D Derderian | +7 more

Iossifov I. O'Roak B.J. Sanders S.J. Ronemus M. Krumm N. Levy D. Stessman H.A. Witherspoon K.T. Vives L. Patterson K.E. et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014; 515: 216-221Neale B.M. Kou Y. Liu L. Ma'ayan A. Samocha K.E. Sabo A. Lin C.F. Stevens C. Wang L.S. Makarov V. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012; 485: 242-245O'Roak B.J. Vives L. Fu W. Egertson J.D. Stanaway I.B. Phelps I.G. Carvill G.

Oct 30, 2023 | biorxiv.org | René N. Caballero-Florán |Andrew Nelson |Lia Min |Paul Jenkins

AbstractBipolar disorder (BD) is a common psychiatric disease that can lead to psychosocial disability, decreased quality of life, and high risk for suicide. Genome-wide association studies have shown that the ANK3 gene is a significant risk factor for BD, but the mechanisms involved in BD pathophysiology are not yet fully understood.

Apr 20, 2023 | journals.plos.org | Hao Liu |Ty Hergenreder |René N. Caballero-Florán

Loading metrics Open Access Peer-reviewedResearch Article AbstractDown syndrome (DS) is caused by the trisomy of human chromosome 21 (HSA21). A major challenge in DS research is to identify the HSA21 genes that cause specific symptoms. Down syndrome cell adhesion molecule (DSCAM) is encoded by a HSA21 gene. Previous studies have shown that the protein level of the Drosophila homolog of DSCAM determines the size of presynaptic terminals.