1. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. Issue 5 (3rd February 2015) Authors: Capo-Chichi, José-Mario; Boissel, Sarah; Brustein, Edna; Pickles, Sarah; Fallet-Bianco, Catherine; Nassif, Christina; Patry, Lysanne; Dobrzeniecka, Sylvia; Liao, Meijiang; Labuda, Damian; Samuels, Mark E; Hamdan, Fadi F; Velde, Christine Vande; Rouleau, Guy A; Drapeau, Pierre; Michaud, Jacques L Journal: Journal of medical genetics Issue: Volume 52:Issue 5(2015) Page Start: 303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. Issue 11 (17th May 2013) Authors: Capo-Chichi, José-Mario; Tcherkezian, Joseph; Hamdan, Fadi F; Décarie, Jean Claude; Dobrzeniecka, Sylvia; Patry, Lysanne; Nadon, Marc-Antoine; Mucha, Bettina E; Major, Philippe; Shevell, Michael; Bencheikh, Bouchra Ouled Amar; Joober, Ridha; Samuels, Mark E; Rouleau, Guy A; Roux, Philippe P; Mich... Journal: Journal of medical genetics Issue: Volume 50:Issue 11(2013) Page Start: 740 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome. Issue 1 (17th October 2012) Authors: Capo‐Chichi, José‐Mario; Bharti, Sanjay Kumar; Sommers, Joshua A.; Yammine, Tony; Chouery, Eliane; Patry, Lysanne; Rouleau, Guy A.; Samuels, Mark E.; Hamdan, Fadi F.; Michaud, Jacques L.; Brosh Jr, Robert M.; Mégarbane, André; Kibar, Zoha Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Issue 11 (18th October 2014) Authors: Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon‐Cavanagh, Simon; Thiffaut, Isabelle; Sheldon, Katherine M.; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S.; McKernan, Kevin J.; FORGE Canada Consortium; Michaud, Jacques; Boles, Richard G.... Journal: Human mutation Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 1285 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutation in The Nuclear‐Encoded Mitochondrial Isoleucyl–tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome. Issue 2 (February 2015) Authors: Schwartzentruber, Jeremy; Buhas, Daniela; Majewski, Jacek; Sasarman, Florin; Papillon‐Cavanagh, Simon; Thiffault, Isabelle; Sheldon, Katherine M.; Massicotte, Christine; Patry, Lysanne; Simon, Mariella; Zare, Amir S.; McKernan, Kevin J.; Consortium, FORGE Canada; Michaud, Jacques; Boles, Richard ... Journal: Human mutation Issue: Volume 36:Issue 2(2015:Feb.) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency. Issue 2 (12th December 2012) Authors: Berryer, Martin H.; Hamdan, Fadi F.; Klitten, Laura L.; Møller, Rikke S.; Carmant, Lionel; Schwartzentruber, Jeremy; Patry, Lysanne; Dobrzeniecka, Sylvia; Rochefort, Daniel; Neugnot‐Cerioli, Mathilde; Lacaille, Jean‐Claude; Niu, Zhiyv; Eng, Christine M.; Yang, Yaping; Palardy, Sylvain; Belhumeur,... Journal: Human mutation Issue: Volume 34:Issue 2(2013:Feb.) Page Start: 385 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutations in TMEM231 cause Joubert syndrome in French Canadians. Issue 10 (25th September 2012) Authors: Srour, Myriam; Hamdan, Fadi F; Schwartzentruber, Jeremy A; Patry, Lysanne; Ospina, Luis H; Shevell, Michael I; Désilets, Valérie; Dobrzeniecka, Sylvia; Mathonnet, Géraldine; Lemyre, Emmanuelle; Massicotte, Christine; Labuda, Damian; Amrom, Dina; Andermann, Eva; Sébire, Guillaume; Maranda, Bruno; ... Journal: Journal of medical genetics Issue: Volume 49:Issue 10(2012) Page Start: 636 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗