1. Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation. Issue 12 (1st October 2011) Authors: Gekas, Jean; Vallée, Maud; Castonguay, Lysanne; Laframboise, Rachel; Maranda, Bruno; Piedboeuf, Bruno; Rousseau, François Journal: Journal of medical genetics Issue: Volume 48:Issue 12(2011) Page Start: 851 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. Issue 1 (11th February 2019) Authors: Levtova, Alina; Waters, Paula J.; Buhas, Daniela; Lévesque, Sébastien; Auray‐Blais, Christiane; Clarke, Joe T.R.; Laframboise, Rachel; Maranda, Bruno; Mitchell, Grant A.; Brunel‐Guitton, Catherine; Braverman, Nancy E. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 1(2019) Page Start: 107 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Issue 1 (December 2016) Authors: Lévesque, Sébastien; Auray-Blais, Christiane; Gravel, Elaine; Boutin, Michel; Dempsey-Nunez, Laura; Jacques, Pierre-Etienne; Chenier, Sébastien; Larue, Sandrine; Rioux, Marie-France; Al-Hertani, Walla; Nadeau, Amelie; Mathieu, Jean; Maranda, Bruno; Désilets, Valérie; Waters, Paula; Keutzer, Joan;... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Early-onset emphysema in a large French-Canadian family: a genetic investigation. Issue 5 (May 2019) Authors: Bossé, Yohan; Lamontagne, Maxime; Gaudreault, Nathalie; Racine, Christine; Levesque, Marie-Hélène; Smith, Benjamin M; Auger, Dominique; Clemenceau, Alisson; Paré, Marie-Ève; Laviolette, Louis; Tremblay, Victor; Maranda, Bruno; Morissette, Mathieu C; Maltais, François Journal: Lancet Issue: Volume 7:Issue 5(2019) Page Start: 427 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Evaluation of urinary keratan sulfate disaccharides in MPS IVA patients using UPLC–MS/MS. (February 2016) Authors: Auray-Blais, Christiane; Lavoie, Pamela; Maranda, Bruno; Boutin, Michel Journal: Bioanalysis Issue: Volume 8:Number 3(2016) Page Start: 179 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. Issue 5 (19th February 2013) Authors: Samuels, Mark E; Majewski, Jacek; Alirezaie, Najmeh; Fernandez, Isabel; Casals, Ferran; Patey, Natalie; Decaluwe, Hélène; Gosselin, Isabelle; Haddad, Elie; Hodgkinson, Alan; Idaghdour, Youssef; Marchand, Valerie; Michaud, Jacques L; Rodrigue, Marc-André; Desjardins, Sylvie; Dubois, Stéphane; Le D... Journal: Journal of medical genetics Issue: Volume 50:Issue 5(2013) Page Start: 324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case report and literature review. Issue 1 (14th March 2019) Authors: Goudie, Catherine; Alayoubi, Abdulfatah M.; Tibout, Pauline; Duval, Michel; Maranda, Bruno; Mitchell, David; Mitchell, John J. Journal: JIMD reports Issue: Volume 46:Issue 1(2019) Page Start: 46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec. Issue 12 (26th October 2019) Authors: Waters, Paula J.; Lace, Baiba; Buhas, Daniela; Gravel, Serge; Cyr, Denis; Boucher, Renée‐Myriam; Bernard, Geneviève; Lévesque, Sébastien; Maranda, Bruno Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 12(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. ISDN2014_0400: Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. Issue 47 (5th November 2015) Authors: Hamdan, Fadi F.; Perrault, Isabelle; Rio, Marlène; Capo‐Chichi, José‐Mario; Boddaert, Nathalie; Décarie, Jean‐Claude; Maranda, Bruno; Nabbout, Rima; Sylvain, Michel; Lortie, Anne; Roux, Philippe P.; Rossignol, Elsa; Gérard, Xavier; Barcia, Giulia; Berquin, Patrick; Munnich, Arnold; Rouleau, Guy A... Journal: International journal of developmental neuroscience Issue: Issue 47:Part A(2015:Dec.) Page Start: 119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. Issue 3 (25th January 2011) Authors: Debray, François-Guillaume; Morin, Charles; Janvier, Annie; Villeneuve, Josée; Maranda, Bruno; Laframboise, Rachel; Lacroix, Jacques; Decarie, Jean-Claude; Robitaille, Yves; Lambert, Marie; Robinson, Brian H; Mitchell, Grant A Journal: Journal of medical genetics Issue: Volume 48:Issue 3(2011) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗