Publications

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
Am J Hum Genet 2017 Jun 25;100(6):865-884. Epub 2017 May 25.
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK. Electronic address:




Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Hum Mutat 2016 Mar 8;37(3):269-79. Epub 2016 Jan 8.
Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, Alberta, Canada.

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
Invest Ophthalmol Vis Sci 2015 Dec;56(13):8158-65
Department of Paediatric Surgery, Human Genetics and Ophthalmology, McGill University, Montreal, Quebec, Canada 2McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada.

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Am J Hum Genet 2015 Nov 17;97(5):744-53. Epub 2015 Oct 17.
Research Center, Centre Hospitalier Universitaire Sainte-Justine, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T 1J4, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T 1J4, Canada. Electronic address:



An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
Hum Mol Genet 2015 Jul 24;24(14):4103-13. Epub 2015 Apr 24.
Department of Human Genetics and Montreal Neurological Institute, McGill University, Montreal, QC., Canada,

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex.
J Allergy Clin Immunol 2015 Apr 11;135(4):998-1007.e6. Epub 2014 Oct 11.
INSERM UMR 1163, The Human Lymphohematopoiesis Laboratory, Imagine Institute, Paris, France; Paris Descartes Sorbonne Paris Cité University, Imagine Institute, Paris, France; Department of Immunology and Hematology, Hôpital Necker Enfants Malades, F-75015 Paris, Paris, France. Electronic address:


Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology.
Neurobiol Aging 2015 Feb 6;36(2):1222.e1-5. Epub 2014 Sep 6.
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.

THEMIS is required for pathogenesis of cerebral malaria and protection against pulmonary tuberculosis.
Infect Immun 2015 Feb 1;83(2):759-68. Epub 2014 Dec 1.
Department of Human Genetics, McGill University, Montreal, QC, Canada Complex Traits Group, McGill University, Montreal, QC, Canada Department of Biochemistry, McGill University, Montreal, QC, Canada

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.
Cancer Discov 2015 Feb 3;5(2):135-42. Epub 2014 Dec 3.
Department of Cancer Biology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Department of Pathology, Abramson Family Cancer Research Institute, Basser Research Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation.
J Exp Med 2014 Dec 17;211(13):2519-35. Epub 2014 Nov 17.
Department of Biochemistry, Department of Human Genetics, McGill and Genome Quebec Innovation Center, Complex Traits Group, McGill University, Montreal, Quebec H3A 0G4, Canada Department of Biochemistry, Department of Human Genetics, McGill and Genome Quebec Innovation Center, Complex Traits Group, McGill University, Montreal, Quebec H3A 0G4, Canada Department of Biochemistry, Department of Human Genetics, McGill and Genome Quebec Innovation Center, Complex Traits Group, McGill University, Montreal, Quebec H3A 0G4, Canada


Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.
Muscle Nerve 2014 Nov 16;50(5):775-9. Epub 2014 Sep 16.
Laboratory of Neurogenetics of Motion, Montreal Neurological Institute, McGill University, Montréal, Canada; Division of Pediatric Neurology, Montreal Children's Hospital-McGill University Health Center, Montréal, Canada.


Neuropathologic features of pontocerebellar hypoplasia type 6.
J Neuropathol Exp Neurol 2014 Nov;73(11):1009-25
From the Calgary Laboratory Services (JTJ) and Alberta Children's Hospital Foundation Research Institute for Child and Maternal Health, Department of Medical Genetics (AMI), University of Calgary, Calgary, Alberta; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario (ACS, MRV, FCC, DEB, JMichaud, KMB); and McGill University and Genome Quebec Innovation Center, Montreal, Quebec (JAS, JMajewski), Canada; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington (RFH, RAD); and Department of Neurological Surgery, University of Washington, Seattle, Washington (RFH).


Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
Nat Commun 2014 Jul 22;5:4483. Epub 2014 Jul 22.
1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
Nature 2014 Jun 28;510(7504):288-92. Epub 2014 May 28.
1] Laboratoire Activation Lymphocytaire et Susceptibilité à l'EBV, INSERM UMR 1163, Hôpital Necker Enfants-Malades, Paris 75015, France [2] Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris 75015, France [3] Laboratoire de Biochimie Métabolomique et Protéomique, Hôpital Necker Enfants-Malades, Paris 75015, France [4].




An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
BMC Med Genet 2014 Mar 26;15:36. Epub 2014 Mar 26.
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, 401 Smyth Rd, Ottawa, ON K1H 8 L1, Canada.



Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
Am J Hum Genet 2014 Jan 19;94(1):73-9. Epub 2013 Dec 19.
Department of Genetics, King Faisal Specialist Hospital, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:



Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma.
Nat Genet 2013 Aug 30;45(8):927-32. Epub 2013 Jun 30.
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.








Bioinactive ACTH causing glucocorticoid deficiency.
J Clin Endocrinol Metab 2013 Feb 4;98(2):736-42. Epub 2013 Jan 4.
Endocrinology Service and Research Center, Centre Hospitalier Universitaire Sainte-Justine, Department of Pediatrics, University of Montreal, Montreal H3T 1C5, Canada.




Mutations in TMEM231 cause Joubert syndrome in French Canadians.
J Med Genet 2012 Oct 25;49(10):636-41. Epub 2012 Sep 25.
Centre of Excellence in Neurosciences of Université de Montréal and Sainte-Justine Hospital Research Center, Montreal, Quebec, Canada H3T 1C5.

Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma.
Cancer Cell 2012 Oct;22(4):425-37
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ) Heidelberg, 69120 Heidelberg, Germany.











Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
J Med Genet 2011 Sep 3;48(9):590-2. Epub 2011 Aug 3.
Department of Human Genetics, Department of Medical Genetics, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Avenue, Room L3-319, Montreal, QC H3G 1A4, Canada.

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