A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

por Levesque, Sebastien, Morin, Charles, Guay, Simon-Pierre, Villeneuve, Josee, Marquis, Pascale, Yik, Wing Yan, Jiralerspong, Sarn, Bouchard, Luigi, Steinberg, Steven, Hacia, Joseph G, Dewar, Ken, Braverman, Nancy E
Publicado 2012

Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses

por Singh, Sushma, Penney, Cindy, Griffin, Anne, Woodland, Geoffrey, Werdyani, Salem, Benteau, Tammy A., Abdelfatah, Nelly, Squires, Jessica, King, Beverly, Houston, Jim, Dyer, Matthew J., Roslin, Nicole M., Vincent, Daniel, Marquis, Pascale, O’Rielly, Darren D., Hodgkinson, Kathy, Burt, Taylor, Baker, Ashley, Stanton, Susan G., Young, Terry-Lynn
Publicado 2023

GenPipes: an open-source framework for distributed and scalable genomic analyses

por Bourgey, Mathieu, Dali, Rola, Eveleigh, Robert, Chen, Kuang Chung, Letourneau, Louis, Fillon, Joel, Michaud, Marc, Caron, Maxime, Sandoval, Johanna, Lefebvre, Francois, Leveque, Gary, Mercier, Eloi, Bujold, David, Marquis, Pascale, Van, Patrick Tran, Anderson de Lima Morais, David, Tremblay, Julien, Shao, Xiaojian, Henrion, Edouard, Gonzalez, Emmanuel, Quirion, Pierre-Olivier, Caron, Bryan, Bourque, Guillaume
Publicado 2019

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

por Pater, Justin A., Penney, Cindy, O’Rielly, Darren D., Griffin, Anne, Kamal, Lara, Brownstein, Zippora, Vona, Barbara, Vinkler, Chana, Shohat, Mordechai, Barel, Ortal, French, Curtis R., Singh, Sushma, Werdyani, Salem, Burt, Taylor, Abdelfatah, Nelly, Houston, Jim, Doucette, Lance P., Squires, Jessica, Glaser, Fabian, Roslin, Nicole M., Vincent, Daniel, Marquis, Pascale, Woodland, Geoffrey, Benoukraf, Touati, Hawkey-Noble, Alexia, Avraham, Karen B., Stanton, Susan G., Young, Terry-Lynn
Publicado 2022

Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI

por Yang, Yunju, Knol, Maria J, Wang, Ruiqi, Mishra, Aniket, Liu, Dan, Luciano, Michelle, Teumer, Alexander, Armstrong, Nicola, Bis, Joshua C, Jhun, Min A, Li, Shuo, Adams, Hieab H H, Aziz, Nasir Ahmad, Bastin, Mark E, Bourgey, Mathieu, Brody, Jennifer A, Frenzel, Stefan, Gottesman, Rebecca F, Hosten, Norbert, Hou, Lifang, Kardia, Sharon L R, Lohner, Valerie, Marquis, Pascale, Maniega, Susana Muñoz, Satizabal, Claudia L, Sorond, Farzaneh A, Valdés Hernández, Maria C, van Duijn, Cornelia M, Vernooij, Meike W, Wittfeld, Katharina, Yang, Qiong, Zhao, Wei, Boerwinkle, Eric, Levy, Daniel, Deary, Ian J, Jiang, Jiyang, Mather, Karen A, Mosley, Thomas H, Psaty, Bruce M, Sachdev, Perminder S, Smith, Jennifer A, Sotoodehnia, Nona, DeCarli, Charles S, Breteler, Monique M B, Ikram, M Arfan, Grabe, Hans J, Wardlaw, Joanna, Longstreth, W T, Launer, Lenore J, Seshadri, Sudha, Debette, Stephanie, Fornage, Myriam
Publicado 2022

Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

por Duperron, Marie-Gabrielle, Knol, Maria J., Le Grand, Quentin, Evans, Tavia E., Mishra, Aniket, Tsuchida, Ami, Roshchupkin, Gennady, Konuma, Takahiro, Trégouët, David-Alexandre, Romero, Jose Rafael, Frenzel, Stefan, Luciano, Michelle, Hofer, Edith, Bourgey, Mathieu, Dueker, Nicole D., Delgado, Pilar, Hilal, Saima, Tankard, Rick M., Dubost, Florian, Shin, Jean, Saba, Yasaman, Armstrong, Nicola J., Bordes, Constance, Bastin, Mark E., Beiser, Alexa, Brodaty, Henry, Bülow, Robin, Carrera, Caty, Chen, Christopher, Cheng, Ching-Yu, Deary, Ian J., Gampawar, Piyush G., Himali, Jayandra J., Jiang, Jiyang, Kawaguchi, Takahisa, Li, Shuo, Macalli, Melissa, Marquis, Pascale, Morris, Zoe, Muñoz Maniega, Susana, Miyamoto, Susumu, Okawa, Masakazu, Paradise, Matthew, Parva, Pedram, Rundek, Tatjana, Sargurupremraj, Muralidharan, Schilling, Sabrina, Setoh, Kazuya, Soukarieh, Omar, Tabara, Yasuharu, Teumer, Alexander, Thalamuthu, Anbupalam, Trollor, Julian N., Valdés Hernández, Maria C., Vernooij, Meike W., Völker, Uwe, Wittfeld, Katharina, Wong, Tien Yin, Wright, Margaret J., Zhang, Junyi, Zhao, Wanting, Zhu, Yi-Cheng, Schmidt, Helena, Sachdev, Perminder S., Wen, Wei, Yoshida, Kazumichi, Joutel, Anne, Satizabal, Claudia L., Sacco, Ralph L., Bourque, Guillaume, Lathrop, Mark, Paus, Tomas, Fernandez-Cadenas, Israel, Yang, Qiong, Mazoyer, Bernard, Boutinaud, Philippe, Okada, Yukinori, Grabe, Hans J., Mather, Karen A., Schmidt, Reinhold, Joliot, Marc, Ikram, M. Arfan, Matsuda, Fumihiko, Tzourio, Christophe, Wardlaw, Joanna M., Seshadri, Sudha, Adams, Hieab H. H., Debette, Stéphanie
Publicado 2023