未登录 DOORS syndrome and a recurrent truncating ATP6V1B2 variant (Sep, 10.1038/s41436-020-00950-9, 2020) Beauregard-Lacroix, Eliane; Pacheco-Cuellar, Guillermo; Ajeawung, Norbert F.; Tardif, Jessica; Dieterich, Klaus; Dabir, Tabib; Vind-Kezunovic, Dina; White, Susan M.; Zadori, Denes; Castiglioni, Claudia; Tranebjaerg, Lisbeth; Torring, Pernille Mathiesen; Blair, Ed; Wisniewska, Marzena; Camurri, Maria Vittoria; van Bever, Yolande; Molidperee, Sirinart; Taylor, Juliet; Dionne-Laporte, Alexandre; Sisodiya, Sanjay M.; Hennekam, Raoul C. M.; Campeau, Philippe M. 分享 收藏
DOORS syndrome and a recurrent truncatingATP6V1B2variant Beauregard-Lacroix, Eliane; Pacheco-Cuellar, Guillermo; Ajeawung, Norbert F.; Tardif, Jessica; Dieterich, Klaus; Dabir, Tabib; Vind-Kezunovic, Dina; White, Susan M.; Zadori, Denes; Castiglioni, Claudia; Tranebjaerg, Lisbeth; Torring, Pernille Mathiesen; Blair, Ed; Wisniewska, Marzena; Camurri, Maria Vittoria; van Bever, Yolande; Molidperee, Sirinart; Taylor, Juliet; Dionne-Laporte, Alexandre; Sisodiya, Sanjay M.; Hennekam, Raoul C. M.; Campeau, Philippe M. 分享 收藏
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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Krier, Joel; Fieg, Elizabeth; Pallais, Juan C.; McConkie-Rosell, Allyn; McDonald, Marie; Freedman, Sharon F.; Riviere, Jean-Baptiste; Lafond-Lapalme, Joel; Simpson, Brittany N.; Hopkin, Robert J.; Trimouille, Aurelien; Van-Gils, Julien; Begtrup, Amber; McWalter, Kirsty; Delphine, Heron; Keren, Boris; Genevieve, David; Argilli, Emanuela; Sherr, Elliott H.; Severino, Mariasavina; Rouleau, Guy A.; Yam, Patricia T.; Charron, Frederic; Srour, Myriam 分享 收藏
Genetic architecture and adaptations of Nunavik Inuit Zhou, Sirui; Xie, Pingxing; Quoibion, Amelie; Ambalavanan, Amirthagowri; Dionne-Laporte, Alexandre; Spiegelman, Dan; Bourassa, Cynthia V.; Xiong, Lan; Dion, Patrick A.; Rouleau, Guy A. 分享 收藏
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease Alcalay, Roy N.; Mallett, Victoria; Vanderperre, Benot; Tavassoly, Omid; Dauvillier, Yves; Wu, Richard Y. J.; Ruskey, Jennifer A.; Leblond, Claire S.; Ambalavanan, Amirthagowri; Laurent, Sandra B.; Spiegelman, Dan; Dionne-Laporte, Alexandre; Liong, Christopher; Levy, Oren A.; Fahn, Stanley; Waters, Cheryl; Kuo, Sheng-Han; Chung, Wendy K.; Ford, Blair; Marder, Karen S.; Kang, Un Jung; Hassin-Baer, Sharon; Greenbaum, Lior; Trempe, Jean-Francois; Wolf, Pavlina; Oliva, Petra; Zhang, Xiaokui Kate; Clark, Lorraine N.; Langlois, Melanie; Dion, Patrick A.; Fon, Edward A.; Dupre, Nicolas; Rouleau, Guy A.; Gan-Or, Ziv 分享 收藏
IDENTIFICATION OF NEW GENES ASSOCIATED WITH CHILDHOOD-ONSET SCHIZOPHRENIA: ATP1A3 AND THE FXYD GENE FAMILY Chaumette, Boris; Ferrafiat, Vladimir; Ambalavanan, Amirthagowri; Goldenberg, Alice; Dionne-Laporte, Alexandre; Spiegelman, Dan; Dion, Patrick; Gerardin, Priscille; Laurent, Claudine; Cohen, David; Rapoport, Judith; Rouleau, Guy 分享 收藏
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Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia Chaumette, Boris; Ferrafiat, Vladimir; Ambalavanan, Amirthagowri; Goldenberg, Alice; Dionne-Laporte, Alexandre; Spiegelman, Dan; Dion, Patrick A.; Gerardin, Priscille; Laurent, Claudine; Cohen, David; Rapoport, Judith; Rouleau, Guy A. 分享 收藏
Global characterization of copy number variants in epilepsy patients from whole genome sequencing Monlong, Jean; Girard, Simon L.; Meloche, Caroline; Cadieux-Dion, Maxime; Andrade, Danielle M.; Lafreniere, Ron G.; Gravel, Micheline; Spiegelman, Dan; Dionne-Laporte, Alexandre; Boelman, Cyrus; Hamdan, Fadi F.; Michaud, Jacques L.; Rouleau, Guy; Minassian, Berge A.; Bourque, Guillaume; Cossette, Patrick 分享 收藏
Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population Zhou, Sirui; Gan-Or, Ziv; Ambalavanan, Amirthagowri; Lai, Dongbing; Xie, Pingxing; Bourassa, Cynthia V.; Strong, Stephanie; Ross, Jay P.; Dionne-Laporte, Alexandre; Spiegelman, Dan; Dupre, Nicolas; Foroud, Tatiana M.; Xiong, Lan; Dion, Patrick A.; Rouleau, Guy A. 分享 收藏
Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma Rivera, Barbara; Di Iorio, Massimo; Frankum, Jessica; Nadaf, Javad; Fahiminiya, Somayyeh; Arcand, Suzanna L.; Burk, David L.; Grapton, Damien; Tomiak, Eva; Hastings, Valerie; Hamel, Nancy; Wagener, Rabea; Aleynikova, Olga; Giroux, Sylvie; Hamdan, Fadi F.; Dionne-Laporte, Alexandre; Zogopoulos, George; Rousseau, Francois; Berghuis, Albert M.; Provencher, Diane; Rouleau, Guy A.; Michaud, Jacques L.; Mes-Masson, Anne-Marie; Majewski, Jacek; Bens, Susanne; Siebert, Reiner; Narod, Steven A.; Akbari, Mohammad R.; Lord, Christopher J.; Tonin, Patricia N.; Orthwein, Alexandre; Foulkes, William D. 分享 收藏
A functionally null RAD51D missense mutation is strongly associated with ovarian carcinoma Rivera, Barbara; Di Iorio, Massimo R.; Frankum, Jessica; Nadaf, Javad; Fahiminiya, Somayyeh; Arcand, Suzanna L.; Burk, David; Grapton, Damien; Tomiak, Eva; Hastings, Valerie; Hamel, Nancy; Wagener, Rabea; Aleynikova, Olga; Giroux, Sylvie; Hamdan, Fadi F.; Orthwein, Alexandre; Zogopoulos, George; Rousseau, Francois; Berghuis, Albert; Provencher, Diane M.; Rouleau, Guy A.; Michaud, Jacques L.; Mes-Masson, Anne-Marie; Majewski, Jacek; Bens, Susanne; Siebert, Reiner; Narod, Steven; Akbari, Mohammad; Lord, Chris J.; Tonin, Patricia N.; Dionne-Laporte, Alexandre; Foulkes, William D. 分享 收藏
Rare deleterious variants in GRHL3 are associated with human spina bifida Lemay, Philippe; De Marco, Patrizia; Emond, Alexandre; Spiegelman, Dan; Dionne-Laporte, Alexandre; Laurent, Sandra; Merello, Elisa; Accogli, Andrea; Rouleau, Guy A.; Capra, Valeria; Kibar, Zoha 分享 收藏
WHOLE EXOME SEQUENCING OF AFFECTED INDIVIDUALS FROM LARGE CONSANGUINEOUS PEDIGREES WITH PSYCHOTIC/AFFECTIVE DISORDERS FROM PAKISTAN He, Qin; Hajji, Ilyass; Jimenez, Daniel; Benbetka, Souhila; Johnson, Amelie; Dionne-Laporte, Alexandre; Spiegelman, Dan; Joober, Ridha; Dube, Marie-Pierre; DeLisi, Lynn; Rouleau, Guy A.; Xiong, Lan 分享 收藏
RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population Zhou, Sirui; Ambalavanan, Amirthagowri; Rochefort, Daniel; Xie, Pingxing; Bourassa, Cynthia V.; Hince, Pascale; Dionne-Laporte, Alexandre; Spiegelman, Dan; Gan-Or, Ziv; Mirarchi, Cathy; Zaharieva, Vessela; Dupre, Nicolas; Kobayashi, Hatasu; Hitomi, Toshiaki; Harada, Kouji; Koizumi, Akio; Xiong, Lan; Dion, Patrick A.; Rouleau, Guy A. 分享 收藏
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Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease Ross, Jay P.; Dupre, Nicolas; Dauvilliers, Yves; Strong, Stephanie; Ambalavanan, Amirthagowri; Spiegelman, Dan; Dionne-Laporte, Alexandre; Pourcher, Emanuelle; Langlois, Melanie; Boivin, Michel; Leblond, Claire S.; Dion, Patrick A.; Rouleau, Guy A.; Gan-Or, Ziv 分享 收藏
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia Gan-Or, Ziv; Bouslam, Naima; Birouk, Nazha; Lissouba, Alexandra; Chambers, Daniel B.; Veriepe, Julie; Androschuk, Alaura; Laurent, Sandra B.; Rochefort, Daniel; Spiegelman, Dan; Dionne-Laporte, Alexandre; Szuto, Anna; Liao, Meijiang; Figlewicz, Denise A.; Bouhouche, Ahmed; Benomar, Ali; Yahyaoui, Mohamed; Ouazzani, Reda; Yoon, Grace; Dupre, Nicolas; Suchowersky, Oksana; Bolduc, Francois V.; Parker, J. Alex; Dion, Patrick A.; Drapeau, Pierre; Rouleau, Guy A.; Bencheikh, Bouchra Ouled Amar 分享 收藏
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis Leblond, Claire S.; Gan-Or, Ziv; Spiegelman, Dan; Laurent, Sandra B.; Szuto, Anna; Hodgkinson, Alan; Dionne-Laporte, Alexandre; Provencher, Pierre; de Carvalho, Mamede; Orru, Sandro; Brunet, Denis; Bouchard, Jean-Pierre; Awadalla, Philip; Dupre, Nicolas; Dion, Patrick A.; Rouleau, Guy A. 分享 收藏
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