Genome-wide association study stratified by MAPT haplotypes identifies potential novel loci in Parkinson’s disease

por Senkevich, Konstantin, Bandres-Ciga, Sara, Cisterna-García, Alejandro, Yu, Eric, Bustos, Bernabe I., Krohn, Lynne, Lubbe, Steven J., Botía, Juan A., Gan-Or, Ziv
Publicado 2023

Early Transcriptional Changes Induced by Wnt/β-Catenin Signaling in Hippocampal Neurons

por Pérez-Palma, Eduardo, Andrade, Víctor, Caracci, Mario O., Bustos, Bernabé I., Villaman, Camilo, Medina, Matías A., Ávila, Miguel E., Ugarte, Giorgia D., De Ferrari, Giancarlo V.
Publicado 2016

Overrepresentation of Glutamate Signaling in Alzheimer's Disease: Network-Based Pathway Enrichment Using Meta-Analysis of Genome-Wide Association Studies

por Pérez-Palma, Eduardo, Bustos, Bernabé I., Villamán, Camilo F., Alarcón, Marcelo A., Avila, Miguel E., Ugarte, Giorgia D., Reyes, Ariel E., Opazo, Carlos, De Ferrari, Giancarlo V.
Publicado 2014

Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk

por Lubbe, Steven J, Bustos, Bernabe I, Hu, Jing, Krainc, Dimitri, Joseph, Theresita, Hehir, Jason, Tan, Manuela, Zhang, Weijia, Escott-Price, Valentina, Williams, Nigel M, Blauwendraat, Cornelis, Singleton, Andrew B, Morris, Huw R
Publicado 2021

Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls

por Simkin, Dina, Papakis, Vasileios, Bustos, Bernabe I., Ambrosi, Christina M., Ryan, Steven J., Baru, Valeriya, Williams, Luis A., Dempsey, Graham T., McManus, Owen B., Landers, John E., Lubbe, Steven J., George, Alfred L., Kiskinis, Evangelos
Publicado 2022

Dyshomeostatic modulation of Ca(2+)-activated K(+) channels in a human neuronal model of KCNQ2 encephalopathy

por Simkin, Dina, Marshall, Kelly A, Vanoye, Carlos G, Desai, Reshma R, Bustos, Bernabe I, Piyevsky, Brandon N, Ortega, Juan A, Forrest, Marc, Robertson, Gabriella L, Penzes, Peter, Laux, Linda C, Lubbe, Steven J, Millichap, John J, George, Alfred L, Kiskinis, Evangelos
Publicado 2021

Variants in ATP5F1B are associated with dominantly inherited dystonia

por Nasca, Alessia, Mencacci, Niccolò E, Invernizzi, Federica, Zech, Michael, Keller Sarmiento, Ignacio J, Legati, Andrea, Frascarelli, Chiara, Bustos, Bernabe I, Romito, Luigi M, Krainc, Dimitri, Winkelmann, Juliane, Carecchio, Miryam, Nardocci, Nardo, Zorzi, Giovanna, Prokisch, Holger, Lubbe, Steven J, Garavaglia, Barbara, Ghezzi, Daniele
Publicado 2023

Copy number variants in lipid metabolism genes are associated with gallstones disease in men

por Pérez-Palma, Eduardo, Bustos, Bernabé I., Lal, Dennis, Buch, Stephan, Azocar, Lorena, Toliat, Mohammad Reza, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Shönfels, Witigo, Schafmayer, Clemens, Ahnert, Peter, Völzke, Henry, Völker, Uwe, Homuth, Georg, Lerch, Markus M., Puschel, Klaus, Gutiérrez, Rodrigo A., Hampe, Jochen, Nürnberg, Peter, Miquel, Juan Francisco, De Ferrari, Giancarlo V.
Publicado 2019

Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry

por Bustos, Bernabé I., Pérez-Palma, Eduardo, Buch, Stephan, Azócar, Lorena, Riveras, Eleodoro, Ugarte, Giorgia D., Toliat, Mohammad, Nürnberg, Peter, Lieb, Wolfgang, Franke, Andre, Hinz, Sebastian, Burmeister, Greta, von Schönfels, Witigo, Schafmayer, Clemens, Völzke, Henry, Völker, Uwe, Homuth, Georg, Lerch, Markus M., Santos, José Luis, Puschel, Klaus, Bambs, Claudia, Roa, Juan Carlos, Gutiérrez, Rodrigo A., Hampe, Jochen, De Ferrari, Giancarlo V., Miquel, Juan Francisco
Publicado 2019

Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans

por Vidal, Elena A., Moyano, Tomás C., Bustos, Bernabé I., Pérez-Palma, Eduardo, Moraga, Carol, Riveras, Eleodoro, Montecinos, Alejandro, Azócar, Lorena, Soto, Daniela C., Vidal, Mabel, Di Genova, Alex, Puschel, Klaus, Nürnberg, Peter, Buch, Stephan, Hampe, Jochen, Allende, Miguel L., Cambiazo, Verónica, González, Mauricio, Hodar, Christian, Montecino, Martín, Muñoz-Espinoza, Claudia, Orellana, Ariel, Reyes-Jara, Angélica, Travisany, Dante, Vizoso, Paula, Moraga, Mauricio, Eyheramendy, Susana, Maass, Alejandro, De Ferrari, Giancarlo V., Miquel, Juan Francisco, Gutiérrez, Rodrigo A.
Publicado 2019

Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data

por Leonard, Hampton L., Murtadha, Ruqaya, Martinez-Carrasco, Alejandro, Jama, Alina, Müller-Nedebock, Amica Corda, Gil-Martinez, Ana-Luisa, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabe I., Jadhav, Bharati, Huxford, Brook, Storm, Catherine, Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P., Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M. X., Periñán, María Teresa, Makarious, Mary B., Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R., Alvarez Jerez, Pilar, Saini, Prabhjyot, al-Ouran, Rami, Sivakumar, Ramiya, Real, Raquel, Reynolds, Regina H., Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C., Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J., Song, Yeajin, Singleton, Andrew, Nalls, Mike A., Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, Noyce, Alastair J.
Publicado 2023

The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data

por Leonard, Hampton L., Murtadha, Ruqaya, Martinez-Carrasco, Alejandro, Jama, Alina, Müller-Nedebock, Amica Corda, Gil-Martinez, Ana-Luisa, Illarionova, Anastasia, Moore, Anni, Bustos, Bernabe I., Jadhav, Bharati, Huxford, Brook, Storm, Catherine, Towns, Clodagh, Vitale, Dan, Chetty, Devina, Yu, Eric, Grenn, Francis P., Salazar, Gabriela, Rateau, Geoffrey, Iwaki, Hirotaka, Elsayed, Inas, Foote, Isabelle Francesca, Jansen van Rensburg, Zuné, Kim, Jonggeol Jeff, Yuan, Jie, Lake, Julie, Brolin, Kajsa, Senkevich, Konstantin, Wu, Lesley, Tan, Manuela M. X., Periñán, María Teresa, Makarious, Mary B., Ta, Michael, Pillay, Nikita Simone, Betancor, Oswaldo Lorenzo, Reyes-Pérez, Paula R., Alvarez Jerez, Pilar, Saini, Prabhjyot, al-Ouran, Rami, Sivakumar, Ramiya, Real, Raquel, Reynolds, Regina H., Hu, Ruifneg, Abrahams, Shameemah, Rao, Shilpa C., Antar, Tarek, Leal, Thiago Peixoto, Iankova, Vassilena, Scotton, William J., Song, Yeajin, Singleton, Andrew, Nalls, Mike A., Dey, Sumit, Bandres-Ciga, Sara, Blauwendraat, Cornelis, Noyce, Alastair J.
Publicado 2023