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	1.	On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing. [electronic resource] by Thiffault, Isabelle Cadieux-Dion, Maxime Farrow, Emily Caylor, Raymond Miller, Neil Soden, Sarah Saunders, Carol Producer: 20190820 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report. [electronic resource] by Cadieux-Dion, Maxime Safina, Nicole P Engleman, Kendra Saunders, Carol Repnikova, Elena Raje, Nikita Canty, Kristi Farrow, Emily Miller, Neil Zellmer, Lee Thiffault, Isabelle Producer: 20181213 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. [electronic resource] by Cadieux-Dion, Maxime Turcotte-Gauthier, Maude Noreau, Anne Martin, Caroline Meloche, Caroline Gravel, Micheline Drouin, Christian Allen Rouleau, Guy A Nguyen, Dang Khoa Cossette, Patrick Producer: 20140609 In: JAMA neurology vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Endo-MitoEGFP mice: a novel transgenic mouse with fluorescently marked mitochondria in microvascular endothelial cells. [electronic resource] by Pickles, Sarah Cadieux-Dion, Maxime Alvarez, Jorge I Lécuyer, Marc-Andre Peyrard, Sarah L Destroismaisons, Laurie St-Onge, Lydia Terouz, Simone Cossette, Patrick Prat, Alexandre Vande Velde, Christine Producer: 20140516 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth. [electronic resource] by Corradi, Anna Fadda, Manuela Piton, Amélie Patry, Lysanne Marte, Antonella Rossi, Pia Cadieux-Dion, Maxime Gauthier, Julie Lapointe, Line Mottron, Laurent Valtorta, Flavia Rouleau, Guy A Fassio, Anna Benfenati, Fabio Cossette, Patrick Producer: 20140804 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing. [electronic resource] by Jedličková, Ivana Cadieux-Dion, Maxime Přistoupilová, Anna Stránecký, Viktor Hartmannová, Hana Hodaňová, Kateřina Barešová, Veronika Hůlková, Helena Sikora, Jakub Nosková, Lenka Mušálková, Dita Vyleťal, Petr Sovová, Jana Cossette, Patrick Andermann, Eva Andermann, Frederick Kmoch, Stanislav Producer: 20210527 In: European journal of human genetics : EJHG vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Global characterization of copy number variants in epilepsy patients from whole genome sequencing. [electronic resource] by 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 Producer: 20180626 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). [electronic resource] by Berkovic, Samuel F Staropoli, John F Carpenter, Stirling Oliver, Karen L Kmoch, Stanislav Anderson, Glenn W Damiano, John A Hildebrand, Michael S Sims, Katherine B Cotman, Susan L Bahlo, Melanie Smith, Katherine R Cadieux-Dion, Maxime Cossette, Patrick Jedličková, Ivana Přistoupilová, Anna Mole, Sara E Producer: 20170601 In: Neurology vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. [electronic resource] by Yan, Kezhi Rousseau, Justine Machol, Keren Cross, Laura A Agre, Katherine E Gibson, Cynthia Forster Goverde, Anne Engleman, Kendra L Verdin, Hannah De Baere, Elfride Potocki, Lorraine Zhou, Dihong Cadieux-Dion, Maxime Bellus, Gary A Wagner, Monisa D Hale, Rebecca J Esber, Natacha Riley, Alan F Solomon, Benjamin D Cho, Megan T McWalter, Kirsty Eyal, Roy Hainlen, Meagan K Mendelsohn, Bryce A Porter, Hillary M Lanpher, Brendan C Lewis, Andrea M Savatt, Juliann Thiffault, Isabelle Callewaert, Bert Campeau, Philippe M Yang, Xiang-Jiao Producer: 20200923 In: Science advances vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. [electronic resource] by Fischer-Zirnsak, Björn Segebrecht, Lara Schubach, Max Charles, Perrine Alderman, Emily Brown, Kathleen Cadieux-Dion, Maxime Cartwright, Tracy Chen, Yanmin Costin, Carrie Fehr, Sarah Fitzgerald, Keely M Fleming, Emily Foss, Kimberly Ha, Thoa Hildebrand, Gabriele Horn, Denise Liu, Shuxi Marco, Elysa J McDonald, Marie McWalter, Kirsty Race, Simone Rush, Eric T Si, Yue Saunders, Carol Slavotinek, Anne Stockler-Ipsiroglu, Sylvia Telegrafi, Aida Thiffault, Isabelle Torti, Erin Tsai, Anne Chun-Hui Wang, Xin Zafar, Muhammad Keren, Boris Kornak, Uwe Boerkoel, Cornelius F Mirzaa, Ghayda Ehmke, Nadja Producer: 20200402 In: American journal of human genetics vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism. [electronic resource] by Diets, Illja J van der Donk, Roos Baltrunaite, Kristina Waanders, Esmé Reijnders, Margot R F Dingemans, Alexander J M Pfundt, Rolph Vulto-van Silfhout, Anneke T Wiel, Laurens Gilissen, Christian Thevenon, Julien Perrin, Laurence Afenjar, Alexandra Nava, Caroline Keren, Boris Bartz, Sarah Peri, Bethany Beunders, Gea Verbeek, Nienke van Gassen, Koen Thiffault, Isabelle Cadieux-Dion, Maxime Huerta-Saenz, Lina Wagner, Matias Konstantopoulou, Vassiliki Vodopiutz, Julia Griese, Matthias Boel, Annekatrien Callewaert, Bert Brunner, Han G Kleefstra, Tjitske Hoogerbrugge, Nicoline de Vries, Bert B A Hwa, Vivian Dauber, Andrew Hehir-Kwa, Jayne Y Kuiper, Roland P Jongmans, Marjolijn C J Producer: 20200203 In: American journal of human genetics vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. [electronic resource] by Guissart, Claire Latypova, Xenia Rollier, Paul Khan, Tahir N Stamberger, Hannah McWalter, Kirsty Cho, Megan T Kjaergaard, Susanne Weckhuysen, Sarah Lesca, Gaetan Besnard, Thomas Õunap, Katrin Schema, Lynn Chiocchetti, Andreas G McDonald, Marie de Bellescize, Julitta Vincent, Marie Van Esch, Hilde Sattler, Shannon Forghani, Irman Thiffault, Isabelle Freitag, Christine M Barbouth, Deborah Sara Cadieux-Dion, Maxime Willaert, Rebecca Guillen Sacoto, Maria J Safina, Nicole P Dubourg, Christèle Grote, Lauren Carré, Wilfrid Saunders, Carol Pajusalu, Sander Farrow, Emily Boland, Anne Karlowicz, Danielle Hays Deleuze, Jean-François Wojcik, Monica H Pressman, Rena Isidor, Bertrand Vogels, Annick Van Paesschen, Wim Al-Gazali, Lihadh Al Shamsi, Aisha Mohamed Claustres, Mireille Pujol, Aurora Sanders, Stephan J Rivier, François Leboucq, Nicolas Cogné, Benjamin Sasorith, Souphatta Sanlaville, Damien Retterer, Kyle Odent, Sylvie Katsanis, Nicholas Bézieau, Stéphane Koenig, Michel Davis, Erica E Pasquier, Laurent Küry, Sébastien Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. [electronic resource] by Hamdan, Fadi F Myers, Candace T Cossette, Patrick Lemay, Philippe Spiegelman, Dan Laporte, Alexandre Dionne Nassif, Christina Diallo, Ousmane Monlong, Jean Cadieux-Dion, Maxime Dobrzeniecka, Sylvia Meloche, Caroline Retterer, Kyle Cho, Megan T Rosenfeld, Jill A Bi, Weimin Massicotte, Christine Miguet, Marguerite Brunga, Ledia Regan, Brigid M Mo, Kelly Tam, Cory Schneider, Amy Hollingsworth, Georgie FitzPatrick, David R Donaldson, Alan Canham, Natalie Blair, Edward Kerr, Bronwyn Fry, Andrew E Thomas, Rhys H Shelagh, Joss Hurst, Jane A Brittain, Helen Blyth, Moira Lebel, Robert Roger Gerkes, Erica H Davis-Keppen, Laura Stein, Quinn Chung, Wendy K Dorison, Sara J Benke, Paul J Fassi, Emily Corsten-Janssen, Nicole Kamsteeg, Erik-Jan Mau-Them, Frederic T Bruel, Ange-Line Verloes, Alain Õunap, Katrin Wojcik, Monica H Albert, Dara V F Venkateswaran, Sunita Ware, Tyson Jones, Dean Liu, Yu-Chi Mohammad, Shekeeb S Bizargity, Peyman Bacino, Carlos A Leuzzi, Vincenzo Martinelli, Simone Dallapiccola, Bruno Tartaglia, Marco Blumkin, Lubov Wierenga, Klaas J Purcarin, Gabriela O'Byrne, James J Stockler, Sylvia Lehman, Anna Keren, Boris Nougues, Marie-Christine Mignot, Cyril Auvin, Stéphane Nava, Caroline Hiatt, Susan M Bebin, Martina Shao, Yunru Scaglia, Fernando Lalani, Seema R Frye, Richard E Jarjour, Imad T Jacques, Stéphanie Boucher, Renee-Myriam Riou, Emilie Srour, Myriam Carmant, Lionel Lortie, Anne Major, Philippe Diadori, Paola Dubeau, François D'Anjou, Guy Bourque, Guillaume Berkovic, Samuel F Sadleir, Lynette G Campeau, Philippe M Kibar, Zoha Lafrenière, Ronald G Girard, Simon L Mercimek-Mahmutoglu, Saadet Boelman, Cyrus Rouleau, Guy A Scheffer, Ingrid E Mefford, Heather C Andrade, Danielle M Rossignol, Elsa Minassian, Berge A Michaud, Jacques L Producer: 20171113 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)