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Bruno Maranda

Professeur, Faculté de médecine et des sciences de la santé

FMSS Département de pédiatrie

Présentation

Sujet de recherche

Applied Genetics

Disciplines de recherche

Genetics

Mots-clés

genetics

Centre de recherche

Centre de recherche du CHUS

Recherche clinique

Yes

Langues parlées et écrites

Anglais, Français

Diplômes

(2006). (Post-doctorate, post MD specialty). Université de Montréal.

(2001). (Doctorate, MD). Université de Montréal.

(2001). (Master's Thesis, MSc). Université de Montréal.

(1997). (Bachelor's, Biochemistry). Université de Montréal.

Titres de compétence

Fellow.

Prix et distinctions

  • (2010) Programme de valorisation de l'enseignement. (Distinction).
  • Prix Jean-de-Margerie (sciences cliniques) pour la publication de l'année. Université de Sherbrooke. (Honor).

Publications

Articles de revue

  • Hamdan FF, Perrault I, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL. (2015). Mutationsin DOCK7 in individuals with epileptic encephalopathy and cortical blindness. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 47 (Pt A), 119-20.
  • Thompson Legault J, Strittmatter L, Tardif J, Sharma R, Tremblay-Vaillancourt V, Aubut C, Boucher G, Clish CB, Cyr D, Daneault C, Waters P; LSFC Consortium, Vachon L, Morin C, Laprise C, Rioux JD, Mootha VK, Des Rosiers C. (2015). A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome. Cell reports 13 (5), 981-9.
  • Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL. (2015). Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. American journal of human genetics 97 (5), 744-53.
  • Castellsagué E, Liu J, Volenik A, Giroux S, Gagné R, Maranda B, Roussel-Jobin A, Latreille J, Laframboise R, Palma L, Kasprzak L, Marcus VA, Breguet M, Nolet S, El-Haffaf Z, Australie K, Gologan A, Aleynikova O, Oros-Klein K, Greenwood C, Mes-Masson AM, Provencher D, Tischkowitz M, Chong G, Rousseau F, Foulkes WD. (2015). Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. Clinical genetics 87 (6), 536-42.
  • Lamoureux MF, Tingley K, Kronick JB, Potter BK, Chan AK, Coyle D, Dodds L, Dyack S, Feigenbaum A, Geraghty M, Gillis J, Rockman-Greenberg C, Khan A, Little J, MacKenzie J, Maranda B, Mhanni A, Mitchell JJ, Mitchell G, Laberge AM, Potter M, Prasad C, Siriwardena K, Speechley KN, Stockler S, Trakadis Y, Turner L, Van Karnebeek C, Wilson K, Chakraborty P; Canadian Inherited Metabolic Diseases Research Network. (2015). Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada. JIMD reports 21 15-22.
  • Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores GM, Lau HA, Al-Sayed MD, Raiman J; STRIVE Investigators, Yang K, Mealiffe M, Haller C. (2015). Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial. Molecular genetics and metabolism 114 (2), 178-85.
  • Khangura SD, Karaceper MD, Trakadis Y, Mitchell JJ, Chakraborty P, Tingley K, Coyle D, Grosse SD, Kronick JB, Laberge AM, Little J, Prasad C, Sikora L, Siriwardena K, Sparkes R, Speechley KN, Stockler S, Wilson BJ, Wilson K, Zayed R, Potter BK; Canadian Inherited Metabolic Diseases Research Network. (2015). Scopingreview of patient- and family-oriented outcomes and measures for chronicpediatric disease. BMC pediatrics 15 7.
  • Fernandez I, Patey N, Marchand V, Birlea M, Maranda B, Haddad E, Decaluwe H, Le Deist F. (2014). Multipleintestinal atresia with combined immune deficiency related to TTC7A defect is amultiorgan pathology: study of a French-Canadian-based cohort. Medicine 93 (29), e327.
  • Auray-Blais C, Maranda B, Lavoie P. (2014). High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTCdeficiency. Clinica chimica acta; international journal of clinical chemistry 436 249-55.
  • Perrault I, Hamdan FF, Rio M, Capo-Chichi JM, Boddaert N, Décarie JC, Maranda B, Nabbout R, Sylvain M, Lortie A, Roux PP, Rossignol E, Gérard X, Barcia G, Berquin P, Munnich A, Rouleau GA, Kaplan J, Rozet JM, Michaud JL. (2014). Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. American journal of human genetics 94 (6), 891-7.
  • Sirrs SM, Bichet DG, Casey R, Clarke JT, Lemoine K, Doucette S, West ML; CFDI investigators. (2014). Outcomes of patients treated through the Canadian Fabry disease initiative. Molecular genetics and metabolism 111 (4), 499-506.
  • Stockler-Ipsiroglu S , van Karnebeek C , Longo N , Korenke GC , Mercimek-Mahmutoglu S , Marquart I , Barshop B , Grolik C , Schlune A , Angle B , Araújo HC , Coskun T , Diogo L , Geraghty M , Haliloglu G , Konstantopoulou V , Leuzzi V , Levtova A , Mackenzie J , Maranda B , Mhanni AA , Mitchell G , Morris A , Newlove T , Renaud D , Scaglia F , Valayannopoulos V , van Spronsen FJ , Verbruggen KT , Yuskiv N , Nyhan W , Schulze A. (2014). Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Molecular genetics and metabolism 111 (1),
  • Benabu Y , Beland M , Ferguson N , Maranda B , Boucher RM. (2013). Genetically proven cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a 3-year-old. Pediatric radiology 43 (9),
  • Potter BK, Chakraborty P, Kronick JB, Wilson K, Coyle D, Feigenbaum A, Geraghty MT, Karaceper MD, Little J, Mhanni A, Mitchell JJ, Siriwardena K, Wilson BJ, Syrowatka A; Canadian Inherited Metabolic Diseases Research Network. (2013). Achievingthe "triple aim" for inborn errors of metabolism: a review ofchallenges to outcomes research and presentation of a new practice-basedevidence framework. Genetics in medicine : official journal of the American College of Medical Genetics 15 (6), 415-22.
  • Samuels ME , Majewski J , Alirezaie N , Fernandez I , Casals F , Patey N , Decaluwe H , Gosselin I , Haddad E , Hodgkinson A , Idaghdour Y , Marchand V , Michaud JL , Rodrigue MA , Desjardins S , Dubois S , Le Deist F , Awadalla P , Raymond V , Maranda B. (2013). Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia. Journal of medical genetics 50 (5), 324-329.
  • Dumoulin E , Stather DR , Gelfand G , Maranda B , Maceachern P , Tremblay A. (2013). Idiopathic subglottic stenosis: a familial predisposition. The Annals of thoracic surgery 95 (3),
  • Srour M , Hamdan FF , Schwartzentruber JA , Patry L , Ospina LH , Shevell MI , Désilets V , Dobrzeniecka S , Mathonnet G , Lemyre E , Massicotte C , Labuda D , Amrom D , Andermann E , Sébire G , Maranda B , , Rouleau GA , Majewski J , Michaud JL. (2012). Mutations in TMEM231 cause Joubert syndrome in French Canadians. Journal of medical genetics 49 (10),
  • Larochelle J , Alvarez F , Bussières JF , Chevalier I , Dallaire L , Dubois J , Faucher F , Fenyves D , Goodyer P , Grenier A , Holme E , Laframboise R , Lambert M , Lindstedt S , Maranda B , Melançon S , Merouani A , Mitchell J , Parizeault G , Pelletier L , Phan V , Rinaldo P , Scott CR , Scriver C , Mitchell GA. (2012). Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. Molecular genetics and metabolism 107 (1-2), 49-54.
  • Auray-Blais C , Lavoie P , Zhang H , Gagnon R , Clarke JT , Maranda B , Young SP , An Y , Millington DS. (2012). An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper. Clinica chimica acta; international journal of clinical chemistry 413 (7-8), 771-78.
  • Srour M , Schwartzentruber J , Hamdan FF , Ospina LH , Patry L , Labuda D , Massicotte C , Dobrzeniecka S , Capo-Chichi JM , Papillon-Cavanagh S , Samuels ME , Boycott KM , Shevell MI , Laframboise R , Désilets V , , Maranda B , Rouleau GA , Majewski J , Michaud JL. (2012). Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. American journal of human genetics 90 (4),
  • Maranda B , Fan L , Soucy JF , Simard L , Mitchell GA. (2012). Spinal muscular atrophy: clinical validation of a single-tube multiplex real time PCR assay for determination of SMN1 and SMN2 copy numbers. Clinical biochemistry 45 (1-2),
  • Lemay J , Sériès F , Sénéchal M , Maranda B , Maltais F. (2012). Unusual respiratory manifestations in two young adults with Duchenne muscular dystrophy. Canadian respiratory journal : journal of the Canadian Thoracic Society 19 (1),
  • Jarry J , Brunet JS , Laframboise R , Drouin R , Latreille J , Richard C , Gekas J , Maranda B , Monczak Y , Wong N , Pouchet C , Zaor S , Kasprzak L , Palma L , Wu MK , Tischkowitz M , Foulkes WD , Chong G. (2011). A survey of APC mutations in Quebec. Familial cancer 10 (4),
  • Gekas J , Vallée M , Castonguay L , Laframboise R , Maranda B , Piedboeuf B , Rousseau F. (2011). Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation. Journal of medical genetics 48 (12),
  • Shinawi M , Sahoo T , Maranda B , Skinner SA , Skinner C , Chinault C , Zascavage R , Peters SU , Patel A , Stevenson RE , Beaudet AL. (2011). 11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity. American journal of medical genetics. Part A 155A (6),
  • Hamdan FF , Gauthier J , Araki Y , Lin DT , Yoshizawa Y , Higashi K , Park AR , Spiegelman D , Dobrzeniecka S , Piton A , Tomitori H , Daoud H , Massicotte C , Henrion E , Diallo O , , Shekarabi M , Marineau C , Shevell M , Maranda B , Mitchell G , Nadeau A , D'Anjou G , Vanasse M , Srour M , Lafrenière RG , Drapeau P , Lacaille JC , Kim E , Lee JR , Igarashi K , Huganir RL , Rouleau GA , Michaud JL. (2011). Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. American journal of human genetics 88 (3),
  • Debray FG , Morin C , Janvier A , Villeneuve J , Maranda B , Laframboise R , Lacroix J , Decarie JC , Robitaille Y , Lambert M , Robinson BH , Mitchell GA. (2011). LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. Journal of medical genetics 48 (3),
  • Suzuki T , Maranda B , Sakagami T , Catellier P , Couture CY , Carey BC , Chalk C , Trapnell BC. (2011). Hereditary pulmonary alveolar proteinosis caused by recessive CSF2RB mutations. The European respiratory journal 37 (1),

Autres contributions

Cours enseignés

  • Génétique Médicale I. GNT 516. (2012-09-01).
  • Génétique Médicale II. GNT616. (2012-09-01).

Gestion d'évènements

  • Chair. Garrod association meeting. (Conference).
  • Chair. Lysosomal storage disease club - 2013 meeting. (Conference).

Présentations

  • (2016). The Canadian Inherited Metabolic Diseases Research Network: Initial findings from a pan-Canadian longitudinal study of affected children. ACMG meeting 2016. Tampa
  • (2015). Combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is probably a benign condition. 2015 SSIEM Symposium. Lyon
  • (2015). Acylglycine profiling: a new liquid chromatography-tandem mass spectrometry (LC-MS/MS) method, applied to disorders of organic acid, fatty acid and ketone metabolism. 2015 SSIEM Symposium. Lyon
  • (2015). Acylglycine profiling: a new liquid chromatography-tandem mass spectrometry (LC-MS/MS) method, applied to disorders of organic acid, fatty acid and ketone metabolism. Garrod Symposium 2015. Vancouver
  • (2015). The Canadian Inherited Metabolic Diseases Research Network: Initial findings from a pan-Canadian longitudinal study of affected children. Garrod Symposium 2015. Vancouver
  • (2015). Génétique cancer : sein et colorectal. 46e congrès de l'AQC. Gatineau
  • (2014). Évaluation génétique de l’insuffisance cardiaque chez l’adulte – Le comment du pourquoi. 11e Symposium 2014 de la SQIC. Orford
  • (2014). UPLC-MS/MS Multiplex Analysis for Mass or High-Risk Screening of Creatine Synthesis and Transport Disorders, Triple H Syndrome and OTC Deficiency. ASMS 2014. Baltimore
  • (2014). Génétique et dermatologie. Association québécoise de dermatologie.
  • (2013). The Canadian Inherited Metabolic Diseases Research Network: A Pan-Canadian, Practice-Based Research Network for Inborn Errors of Metabolism. International Rare Diseases Research Consortium (IRDiRC) meeting. Dublin
  • (2013). The novel founder MSH6 mutation c.10C>T is an important cause of Lynch syndrome in the French Canadian population. SPSAS Advances in Molecular Oncology. Sao Paulo
  • (2012). Génétique des cancers digestifs. 6ème journée scientifique du département de pathologie.
  • (2012). Génétique et cardiologie. Association des cardiologues du Québec.
  • (2011). Canadian NP-C Guidelines. Garrod Symposium 2011. Calgary
  • Comment ne pas perdre la tête avec les maladies métaboliques ?. Congrès annuel de l'APQ.