Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

por Zhongbo Chen, David Zhang, Regina H. Reynolds, Emil K. Gustavsson, Sonia García-Ruiz, Karishma D’Sa, Aine Fairbrother-Browne, Jana Vandrovcova, International Parkinson’s Disease Genomics Consortium (IPDGC), John Hardy, Henry Houlden, Sarah A. Gagliano Taliun, Juan Botía, Mina Ryten
Publicado 2021

Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

por Sebastian Guelfi, Karishma D’Sa, Juan A. Botía, Jana Vandrovcova, Regina H. Reynolds, David Zhang, Daniah Trabzuni, Leonardo Collado-Torres, Andrew Thomason, Pedro Quijada Leyton, Sarah A. Gagliano Taliun, Mike A. Nalls, International Parkinson’s Disease Genomics Consortium (IPDGC), UK Brain Expression Consortium (UKBEC), Kerrin S. Small, Colin Smith, Adaikalavan Ramasamy, John Hardy, Michael E. Weale, Mina Ryten
Publicado 2020

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.

por Daniah Trabzuni, Mina Ryten, Warren Emmett, Adaikalavan Ramasamy, Karl J Lackner, Tanja Zeller, Robert Walker, Colin Smith, Patrick A Lewis, Adamantios Mamais, Rohan de Silva, Jana Vandrovcova, International Parkinson Disease Genomics Consortium (IPDGC), Dena Hernandez, Michael A Nalls, Manu Sharma, Sophie Garnier, Suzanne Lesage, Javier Simon-Sanchez, Thomas Gasser, Peter Heutink, Alexis Brice, Andrew Singleton, Huaibin Cai, Eric Schadt, Nicholas W Wood, Rina Bandopadhyay, Michael E Weale, John Hardy, Vincent Plagnol
Publicado 2013

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

por Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden
Publicado 2019