Evaluation of NTHL1, NEIL1, NEIL2, MPG, TDG, UNG and SMUG1 genes in familial colorectal cancer predisposition

por Broderick, Peter, Bagratuni, Tina, Vijayakrishnan, Jairam, Lubbe, Steven, Chandler, Ian, Houlston, Richard S
Publicado 2006

Early Onset Parkinson’s Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report

por Norman, Brendan P., Lubbe, Steven J., Tan, Manuela, Warren, Naomi, Morris, Huw R.
Publicado 2017

Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics

por Wong, Yvette C., Kim, Soojin, Cisneros, Jasmine, Molakal, Catherine G., Song, Pingping, Lubbe, Steven J., Krainc, Dimitri
Publicado 2022

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

Evaluation of Germline BMP4 Mutation as a Cause of Colorectal Cancer

por Lubbe, Steven J, Pittman, Alan M, Matijssen, Cornelis, Twiss, Philip, Olver, Bianca, Lloyd, Amy, Qureshi, Mobshra, Brown, Nathan, Nye, Emma, Stamp, Gordon, Blagg, Julian, Houlston, Richard S
Publicado 2011

Polygenic risk of Parkinson disease is correlated with disease age at onset

por Escott‐Price, Valentina, Nalls, Mike A., Morris, Huw R., Lubbe, Steven, Brice, Alexis, Gasser, Thomas, Heutink, Peter, Wood, Nicholas W., Hardy, John, Singleton, Andrew B., Williams, Nigel M.
Publicado 2015

A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders

por Lamb, Ruth, Rohrer, Jonathan D., Real, Raquel, Lubbe, Steven J., Waite, Adrian J., Blake, Derek J., Walters, R. Jon, Lashley, Tammaryn, Revesz, Tamas, Holton, Janice L., Morris, Huw R.
Publicado 2019

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

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

por Kiely, Aoife P., Ling, Helen, Asi, Yasmine T., Kara, Eleanna, Proukakis, Christos, Schapira, Anthony H., Morris, Huw R., Roberts, Helen C., Lubbe, Steven, Limousin, Patricia, Lewis, Patrick A., Lees, Andrew J., Quinn, Niall, Hardy, John, Love, Seth, Revesz, Tamas, Houlden, Henry, Holton, Janice L.
Publicado 2015

Additional rare variant analysis in Parkinson’s disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

por Lubbe, Steven J., Escott-Price, Valentina, Gibbs, J. Raphael, Nalls, Mike A., Bras, Jose, Price, T. Ryan, Nicolas, Aude, Jansen, Iris E., Mok, Kin Y., Pittman, Alan M., Tomkins, James E., Lewis, Patrick A., Noyce, Alastair J., Lesage, Suzanne, Sharma, Manu, Schiff, Elena R., Levine, Adam P., Brice, Alexis, Gasser, Thomas, Hardy, John, Heutink, Peter, Wood, Nicholas W., Singleton, Andrew B., Williams, Nigel M., Morris, Huw R.
Publicado 2016

NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations

por Bandres-Ciga, Sara, Faghri, Faraz, Majounie, Elisa, Koretsky, Mathew J, Kim, Jeffrey, Levine, Kristin S, Leonard, Hampton, Makarious, Mary B, Iwaki, Hirotaka, Crea, Peter Wild, Hernandez, Dena G, Arepalli, Sampath, Billingsley, Kimberley, Lohmann, Katja, Klein, Christine, Lubbe, Steven J, Jabbari, Edwin, Saffie-Awad, Paula, Narendra, Derek, Reyes-Palomares, Armando, Quinn, John P, Schulte, Claudia, Morris, Huw R, Traynor, Bryan J., Scholz, Sonja W., Houlden, Henry, Hardy, John, Dumanis, Sonya, Riley, Ekemini, Blauwendraat, Cornelis, Singleton, Andrew, Nalls, Mike, Jeff, Janina, Vitale, Dan
Publicado 2023

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

por Jansen, Iris E., Ye, Hui, Heetveld, Sasja, Lechler, Marie C., Michels, Helen, Seinstra, Renée I., Lubbe, Steven J., Drouet, Valérie, Lesage, Suzanne, Majounie, Elisa, Gibbs, J. Raphael, Nalls, Mike A., Ryten, Mina, Botia, Juan A., Vandrovcova, Jana, Simon-Sanchez, Javier, Castillo-Lizardo, Melissa, Rizzu, Patrizia, Blauwendraat, Cornelis, Chouhan, Amit K., Li, Yarong, Yogi, Puja, Amin, Najaf, van Duijn, Cornelia M., Morris, Huw R., Brice, Alexis, Singleton, Andrew B., David, Della C., Nollen, Ellen A., Jain, Shushant, Shulman, Joshua M., Heutink, Peter
Publicado 2017

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

por Kuipers, Demy J. S., Mandemakers, Wim, Lu, Chin‐Song, Olgiati, Simone, Breedveld, Guido J., Fevga, Christina, Tadic, Vera, Carecchio, Miryam, Osterman, Bradley, Sagi‐Dain, Lena, Wu‐Chou, Yah‐Huei, Chen, Chiung C., Chang, Hsiu‐Chen, Wu, Shey‐Lin, Yeh, Tu‐Hsueh, Weng, Yi‐Hsin, Elia, Antonio E., Panteghini, Celeste, Marotta, Nicolas, Pauly, Martje G., Kühn, Andrea A., Volkmann, Jens, Lace, Baiba, Meijer, Inge A., Kandaswamy, Krishna, Quadri, Marialuisa, Garavaglia, Barbara, Lohmann, Katja, Bauer, Peter, Mencacci, Niccolò E., Lubbe, Steven J., Klein, Christine, Bertoli‐Avella, Aida M., Bonifati, Vincenzo
Publicado 2020

Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data

por Mok, Kin Y, Sheerin, Una, Simón-Sánchez, Javier, Salaka, Afnan, Chester, Lucy, Escott-Price, Valentina, Mantripragada, Kiran, Doherty, Karen M, Noyce, Alastair J, Mencacci, Niccolo E, Lubbe, Steven J, Williams-Gray, Caroline H, Barker, Roger A, van Dijk, Karin D, Berendse, Henk W, Heutink, Peter, Corvol, Jean-Christophe, Cormier, Florence, Lesage, Suzanne, Brice, Alexis, Brockmann, Kathrin, Schulte, Claudia, Gasser, Thomas, Foltynie, Thomas, Limousin, Patricia, Morrison, Karen E, Clarke, Carl E, Sawcer, Stephen, Warner, Tom T, Lees, Andrew J, Morris, Huw R, Nalls, Mike A, Singleton, Andrew B, Hardy, John, Abramov, Andrey Y, Plagnol, Vincent, Williams, Nigel M, Wood, Nicholas W
Publicado 2016

Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers

por Mencacci, Niccolò E., Isaias, Ioannis U., Reich, Martin M., Ganos, Christos, Plagnol, Vincent, Polke, James M., Bras, Jose, Hersheson, Joshua, Stamelou, Maria, Pittman, Alan M., Noyce, Alastair J., Mok, Kin Y., Opladen, Thomas, Kunstmann, Erdmute, Hodecker, Sybille, Münchau, Alexander, Volkmann, Jens, Samnick, Samuel, Sidle, Katie, Nanji, Tina, Sweeney, Mary G., Houlden, Henry, Batla, Amit, Zecchinelli, Anna L., Pezzoli, Gianni, Marotta, Giorgio, Lees, Andrew, Alegria, Paulo, Krack, Paul, Cormier-Dequaire, Florence, Lesage, Suzanne, Brice, Alexis, Heutink, Peter, Gasser, Thomas, Lubbe, Steven J., Morris, Huw R., Taba, Pille, Koks, Sulev, Majounie, Elisa, Raphael Gibbs, J., Singleton, Andrew, Hardy, John, Klebe, Stephan, Bhatia, Kailash P., Wood, Nicholas W.
Publicado 2014

Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer

por Tomlinson, Ian P. M., Carvajal-Carmona, Luis G., Dobbins, Sara E., Tenesa, Albert, Jones, Angela M., Howarth, Kimberley, Palles, Claire, Broderick, Peter, Jaeger, Emma E. M., Farrington, Susan, Lewis, Annabelle, Prendergast, James G. D., Pittman, Alan M., Theodoratou, Evropi, Olver, Bianca, Walker, Marion, Penegar, Steven, Barclay, Ella, Whiffin, Nicola, Martin, Lynn, Ballereau, Stephane, Lloyd, Amy, Gorman, Maggie, Lubbe, Steven, Howie, Bryan, Marchini, Jonathan, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Castells, Antoni, Carracedo, Angel, Castellvi-Bel, Sergi, Duggan, David, Conti, David, Cazier, Jean-Baptiste, Campbell, Harry, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G., Montgomery, Grant W., Young, Joanne, Baird, Paul N., Gallinger, Steven, Newcomb, Polly, Hopper, John, Jenkins, Mark A., Aaltonen, Lauri A., Kerr, David J., Cheadle, Jeremy, Pharoah, Paul, Casey, Graham, Houlston, Richard S., Dunlop, Malcolm G.
Publicado 2011