Copy number variation and susceptibility to complex traits

por Canales, Cesar P, Walz, Katherina
Publicado 2011

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome

por Carmona-Mora, Paulina, Canales, Cesar P., Cao, Lei, Perez, Irene C., Srivastava, Anand K., Young, Juan I., Walz, Katherina
Publicado 2012

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

por Carmona-Mora, Paulina, Encina, Carolina A, Canales, Cesar P, Cao, Lei, Molina, Jessica, Kairath, Pamela, Young, Juan I, Walz, Katherina
Publicado 2010

RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome

por Corley, Susan M., Canales, Cesar P., Carmona-Mora, Paulina, Mendoza-Reinosa, Veronica, Beverdam, Annemiek, Hardeman, Edna C., Wilkins, Marc R., Palmer, Stephen J.
Publicado 2016

Characterization of a Trpc6 Transgenic Mouse Associated with Early Onset FSGS

por Canales, Cesar P., Krall, Paola, Kairath, Pamela, Perez, Irene C., Fragoso, Miryam A., Carmona-Mora, Paulina, Ruiz, Phillip, Reiser, Jochen, Young, Juan I., Walz, Katherina
Publicado 2014

Podocyte-Specific Overexpression of Wild Type or Mutant Trpc6 in Mice Is Sufficient to Cause Glomerular Disease

por Krall, Paola, Canales, Cesar P., Kairath, Pamela, Carmona-Mora, Paulina, Molina, Jessica, Carpio, J. Daniel, Ruiz, Phillip, Mezzano, Sergio A., Li, Jing, Wei, Changli, Reiser, Jochen, Young, Juan I., Walz, Katherina
Publicado 2010

Parallel functional testing identifies enhancers active in early postnatal mouse brain

por Lambert, Jason T, Su-Feher, Linda, Cichewicz, Karol, Warren, Tracy L, Zdilar, Iva, Wang, Yurong, Lim, Kenneth J, Haigh, Jessica L, Morse, Sarah J, Canales, Cesar P, Stradleigh, Tyler W, Castillo Palacios, Erika, Haghani, Viktoria, Moss, Spencer D, Parolini, Hannah, Quintero, Diana, Shrestha, Diwash, Vogt, Daniel, Byrne, Leah C, Nord, Alex S
Publicado 2021

Sequential perturbations to mouse corticogenesis following in utero maternal immune activation

por Canales, Cesar P, Estes, Myka L, Cichewicz, Karol, Angara, Kartik, Aboubechara, John Paul, Cameron, Scott, Prendergast, Kathryn, Su-Feher, Linda, Zdilar, Iva, Kreun, Ellie J, Connolly, Emma C, Seo, Jin Myeong, Goon, Jack B, Farrelly, Kathleen, Stradleigh, Tyler W, van der List, Deborah, Haapanen, Lori, Van de Water, Judy, Vogt, Daniel, McAllister, A Kimberley, Nord, Alex S
Publicado 2021

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice

por Haigh, Jessica L., Adhikari, Anna, Copping, Nycole A., Stradleigh, Tyler, Wade, A. Ayanna, Catta-Preta, Rinaldo, Su-Feher, Linda, Zdilar, Iva, Morse, Sarah, Fenton, Timothy A., Nguyen, Anh, Quintero, Diana, Agezew, Samrawit, Sramek, Michael, Kreun, Ellie J., Carter, Jasmine, Gompers, Andrea, Lambert, Jason T., Canales, Cesar P., Pennacchio, Len A., Visel, Axel, Dickel, Diane E., Silverman, Jill L., Nord, Alex S.
Publicado 2021