De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia

מאת Leblond, Claire S., Webber, Alina, Gan-Or, Ziv, Moore, Fraser, Dagher, Alain, Dion, Patrick A., Rouleau, Guy A.
הוצא לאור ב Neurol Genet (2016)

Somatic expansion of the C9orf72 hexanucleotide repeat does not occur in ALS spinal cord tissues

מאת Ross, Jay P., Leblond, Claire S., Catoire, Hélène, Volkening, Kathryn, Strong, Michael, Zinman, Lorne, Robertson, Janice, Dion, Patrick A., Rouleau, Guy A.
הוצא לאור ב Neurol Genet (2019)

Heritability of the melatonin synthesis variability in autism spectrum disorders

מאת Benabou, Marion, Rolland, Thomas, Leblond, Claire S., Millot, Gaël A., Huguet, Guillaume, Delorme, Richard, Leboyer, Marion, Pagan, Cécile, Callebert, Jacques, Maronde, Erik, Bourgeron, Thomas
הוצא לאור ב Sci Rep (2017)

Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders

מאת Pagan, Cécile, Benabou, Marion, Leblond, Claire, Cliquet, Freddy, Mathieu, Alexandre, Lemière, Nathalie, Goubran-Botros, Hany, Delorme, Richard, Leboyer, Marion, Callebert, Jacques, Bourgeron, Thomas, Launay, Jean-Marie
הוצא לאור ב Transl Psychiatry (2021)

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

מאת Gonzalez-Perez, Paloma, Woehlbier, Ute, Chian, Ru-Ju, Sapp, Peter, Rouleau, Guy A., Leblond, Claire S., Daoud, Hussein, Dion, Patrick A., Landers, John E., Hetz, Claudio, Brown, Robert H.
הוצא לאור ב Gene (2015)

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

מאת Niblock, Michael, Smith, Bradley N., Lee, Youn-Bok, Sardone, Valentina, Topp, Simon, Troakes, Claire, Al-Sarraj, Safa, Leblond, Claire S., Dion, Patrick A., Rouleau, Guy A., Shaw, Christopher E., Gallo, Jean-Marc
הוצא לאור ב Acta Neuropathol Commun (2016)

Social and non-social autism symptoms and trait domains are genetically dissociable

מאת Warrier, Varun, Toro, Roberto, Won, Hyejung, Leblond, Claire S., Cliquet, Freddy, Delorme, Richard, De Witte, Ward, Bralten, Janita, Chakrabarti, Bhismadev, Børglum, Anders D., Grove, Jakob, Poelmans, Geert, Hinds, David A., Bourgeron, Thomas, Baron-Cohen, Simon
הוצא לאור ב Commun Biol (2019)

Variations of the Candidate SEZ6L2 Gene on Chromosome 16p11.2 in Patients with Autism Spectrum Disorders and in Human Populations

מאת Konyukh, Marina, Delorme, Richard, Chaste, Pauline, Leblond, Claire, Lemière, Nathalie, Nygren, Gudrun, Anckarsäter, Henrik, Rastam, Maria, Ståhlberg, Ola, Amsellem, Frederique, Gillberg, I. Carina, Mouren-Simeoni, Marie Christine, Herbrecht, Evelyn, Fauchereau, Fabien, Toro, Roberto, Gillberg, Christopher, Leboyer, Marion, Bourgeron, Thomas
יצא לאור 2011

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

מאת Houle, Gabrielle, Ambalavanan, Amirthagowri, Schmouth, Jean-François, Leblond, Claire S., Spiegelman, Dan, Laurent, Sandra B., Bourassa, Cynthia V., Grayson, Celene, Panisset, Michel, Chouinard, Sylvain, Dupré, Nicolas, Vilariño-Güell, Carles, Rajput, Alex, Girard, Simon L., Dion, Patrick A., Rouleau, Guy A.
הוצא לאור ב Neurol Genet (2017)

Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations

מאת Gouder, Laura, Vitrac, Aline, Goubran-Botros, Hany, Danckaert, Anne, Tinevez, Jean-Yves, André-Leroux, Gwenaëlle, Atanasova, Ekaterina, Lemière, Nathalie, Biton, Anne, Leblond, Claire S., Poulet, Aurélie, Boland, Anne, Deleuze, Jean-François, Benchoua, Alexandra, Delorme, Richard, Bourgeron, Thomas, Cloëz-Tayarani, Isabelle
הוצא לאור ב Sci Rep (2019)

Both rare and common genetic variants contribute to autism in the Faroe Islands

מאת Leblond, Claire S, Cliquet, Freddy, Carton, Coralie, Huguet, Guillaume, Mathieu, Alexandre, Kergrohen, Thomas, Buratti, Julien, Lemière, Nathalie, Cuisset, Laurence, Bienvenu, Thierry, Boland, Anne, Deleuze, Jean-François, Stora, Tormodur, Biskupstoe, Rannva, Halling, Jónrit, Andorsdóttir, Guðrið, Billstedt, Eva, Gillberg, Christopher, Bourgeron, Thomas
הוצא לאור ב NPJ Genom Med (2019)

Heterozygous FA2H mutations in autism spectrum disorders

מאת Scheid, Isabelle, Maruani, Anna, Huguet, Guillaume, Leblond, Claire S, Nygren, Gudrun, Anckarsäter, Henrik, Beggiato, Anita, Rastam, Maria, Amsellem, Fréderique, Gillberg, I Carina, Elmaleh, Monique, Leboyer, Marion, Gillberg, Christopher, Betancur, Catalina, Coleman, Mary, Hama, Hiroko, Cook, Edwin H, Bourgeron, Thomas, Delorme, Richard
הוצא לאור ב BMC Med Genet (2013)

Genetic markers of Restless Legs Syndrome in Parkinson Disease

מאת Gan-Or, Ziv, Alcalay, Roy N., Bar-Shira, Anat, Leblond, Claire S., Postuma, Ron B., Ben-Shachar, Shay, Waters, Cheryl, Johnson, Amelie, Levy, Oren, Mirelman, Anat, Gana-Weisz, Mali, Dupre, Nicolas, Montplaisir, Jaques, Giladi, Nir, Fahn, Stanley, Xiong, Lan, Dion, Patrick A., Orr-Urtreger, Avi, Rouleau, Guy A.
הוצא לאור ב Parkinsonism Relat Disord (2015)

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

מאת Kaneb, Hannah M., Folkmann, Andrew W., Belzil, Véronique V., Jao, Li-En, Leblond, Claire S., Girard, Simon L., Daoud, Hussein, Noreau, Anne, Rochefort, Daniel, Hince, Pascale, Szuto, Anna, Levert, Annie, Vidal, Sabrina, André-Guimont, Catherine, Camu, William, Bouchard, Jean-Pierre, Dupré, Nicolas, Rouleau, Guy A., Wente, Susan R., Dion, Patrick A.
הוצא לאור ב Hum Mol Genet (2015)

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

מאת Gan-Or, Ziv, Mirelman, Anat, Postuma, Ronald B, Arnulf, Isabelle, Bar-Shira, Anat, Dauvilliers, Yves, Desautels, Alex, Gagnon, Jean-François, Leblond, Claire S, Frauscher, Birgit, Alcalay, Roy N, Saunders-Pullman, Rachel, Bressman, Susan B, Marder, Karen, Monaca, Christelle, Högl, Birgit, Orr-Urtreger, Avi, Dion, Patrick A, Montplaisir, Jacques Y, Giladi, Nir, Rouleau, Guy A
הוצא לאור ב Ann Clin Transl Neurol (2015)

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

מאת Rafiq, Muhammad Arshad, Leblond, Claire S, Saqib, Muhammad Arif Nadeem, Vincent, Akshita K., Ambalavanan, Amirthagowri, Khan, Falak Sher, Ayaz, Muhammad, Shaheen, Naseema, Spiegelman, Dan, Ali, Ghazanfar, Amin-ud-din, Muhammad, Laurent, Sandra, Mahmood, Huda, Christian, Mehtab, Ali, Nadir, Fennell, Alanna, Nanjiani, Zohair, Egger, Gerald, Caron, Chantal, Waqas, Ahmed, Ayub, Muhammad, Rasheed, Saima, Forgeot d’Arc, Baudouin, Johnson, Amelie, So, Joyce, Brohi, Muhammad Qasim, Mottron, Laurent, Ansar, Muhammad, Vincent, John B, Xiong, Lan
הוצא לאור ב BMC Med Genet (2015)

SHANK1 Deletions in Males with Autism Spectrum Disorder

מאת Sato, Daisuke, Lionel, Anath C., Leblond, Claire S., Prasad, Aparna, Pinto, Dalila, Walker, Susan, O'Connor, Irene, Russell, Carolyn, Drmic, Irene E., Hamdan, Fadi F., Michaud, Jacques L., Endris, Volker, Roeth, Ralph, Delorme, Richard, Huguet, Guillaume, Leboyer, Marion, Rastam, Maria, Gillberg, Christopher, Lathrop, Mark, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Weksberg, Rosanna, Fombonne, Eric, Zwaigenbaum, Lonnie, Fernandez, Bridget A., Roberts, Wendy, Rappold, Gudrun A., Marshall, Christian R., Bourgeron, Thomas, Szatmari, Peter, Scherer, Stephen W.
יצא לאור 2012

SMPD1 mutations, activity and α-synuclein accumulation in Parkinson’s disease

מאת Alcalay, Roy N., Mallett, Victoria, Vanderperre, Benoît, Tavassoly, Omid, Dauvilliers, 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
הוצא לאור ב Mov Disord (2019)

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

מאת Akimoto, Chizuru, Volk, Alexander E, van Blitterswijk, Marka, Van den Broeck, Marleen, Leblond, Claire S, Lumbroso, Serge, Camu, William, Neitzel, Birgit, Onodera, Osamu, van Rheenen, Wouter, Pinto, Susana, Weber, Markus, Smith, Bradley, Proven, Melanie, Talbot, Kevin, Keagle, Pamela, Chesi, Alessandra, Ratti, Antonia, van der Zee, Julie, Alstermark, Helena, Birve, Anna, Calini, Daniela, Nordin, Angelica, Tradowsky, Daniela C, Just, Walter, Daoud, Hussein, Angerbauer, Sabrina, DeJesus-Hernandez, Mariely, Konno, Takuya, Lloyd-Jani, Anjali, de Carvalho, Mamede, Mouzat, Kevin, Landers, John E, Veldink, Jan H, Silani, Vincenzo, Gitler, Aaron D, Shaw, Christopher E, Rouleau, Guy A, van den Berg, Leonard H, Van Broeckhoven, Christine, Rademakers, Rosa, Andersen, Peter M, Kubisch, Christian
יצא לאור 2014

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

מאת Leblond, Claire S., Heinrich, Jutta, Delorme, Richard, Proepper, Christian, Betancur, Catalina, Huguet, Guillaume, Konyukh, Marina, Chaste, Pauline, Ey, Elodie, Rastam, Maria, Anckarsäter, Henrik, Nygren, Gudrun, Gillberg, I. Carina, Melke, Jonas, Toro, Roberto, Regnault, Beatrice, Fauchereau, Fabien, Mercati, Oriane, Lemière, Nathalie, Skuse, David, Poot, Martin, Holt, Richard, Monaco, Anthony P., Järvelä, Irma, Kantojärvi, Katri, Vanhala, Raija, Curran, Sarah, Collier, David A., Bolton, Patrick, Chiocchetti, Andreas, Klauck, Sabine M., Poustka, Fritz, Freitag, Christine M., Waltes, Regina, Kopp, Marnie, Duketis, Eftichia, Bacchelli, Elena, Minopoli, Fiorella, Ruta, Liliana, Battaglia, Agatino, Mazzone, Luigi, Maestrini, Elena, Sequeira, Ana F., Oliveira, Barbara, Vicente, Astrid, Oliveira, Guiomar, Pinto, Dalila, Scherer, Stephen W., Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Bonneau, Dominique, Guinchat, Vincent, Devillard, Françoise, Assouline, Brigitte, Mouren, Marie-Christine, Leboyer, Marion, Gillberg, Christopher, Boeckers, Tobias M., Bourgeron, Thomas
יצא לאור 2012