Publications

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.
Clin Transl Sci 2018 Jan 23;11(1):11-20. Epub 2017 Oct 23.
National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.


Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.
Am J Hum Genet 2018 Jan;102(1):156-174
Department of Pathology and Laboratory Medicine, Western University, London, ON N6A5C1, Canada; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada. Electronic address:








Clinical and genetic study of hereditary spastic paraplegia in Canada.
Neurol Genet 2017 Feb 5;3(1):e122. Epub 2016 Dec 5.
Division of Neurology (N.C., G.Y.), Division of Clinical and Metabolic Genetics (S. Ahmed, H.M., G.Y.), Department of Paediatrics, University of Toronto, The Hospital for Sick Children; Faculty of Medicine (N.C., N.D., J.-D.B., K.M.-A.), Laval University, Quebec City; Department of Neurological Sciences (N.D., P.P.), CHU de Québec; Department of Neurology and Neurosurgery (Z.G.-O., N.M., P.A.D., G.A.R.), McGill University, Montreal Neurological Institute, Quebec; Department of Medical Genetics (A.S.), University of Montreal, CHUM, Quebec; The Hospital for Sick Children Research Institute (S.C.), Child Health Evaluative Sciences/Biostatistics Design & Analysis Unit, Toronto, Ontario; Department of Medicine (A.V., O.S.), Division of Neurology, Department of Medical Genetics (S. Ashtiani, O.S.), University of Alberta, Edmonton; Department of Genetics (J.W.-C., K.M.B.), Children's Hospital of Eastern Ontario, Ottawa; CHU de Québec (K.M.-A.), Hôpital Enfant-Jésus, Quebec City; Department of Paediatric Laboratory Medicine (D.J.S., P.N.R.), The Hospital for Sick Children, Toronto, Ontario; and Department of Molecular Genetics (P.N.R.), The University of Toronto, Canada.


Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care.
Mol Genet Genomic Med 2016 Sep 10;4(5):504-12. Epub 2016 May 10.
Children's Hospital of Eastern Ontario Research InstituteUniversity of OttawaOttawaOntarioCanada; Department of GeneticsChildren's Hospital of Eastern Ontario ResearchOttawaOntarioCanada.

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
CMAJ 2016 Aug 30;188(11):E254-60. Epub 2016 May 30.
Department of Genetics (Daoud, Luco, Beaulieu, Jarinova, Carson, Nikkel, Graham, Richer, Armour, Boycott, Dyment) and Department of Pediatrics (Bulman, Chakraborty, Geraghty, Lines, Lacaze-Masmonteil), Children's Hospital of Eastern Ontario, Ottawa, Ont.; McGill University (Li, Bareke, Majewski) and Genome Quebec Innovation Centre (Li, Bareke, Majewski), Montréal, Que.

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.
Mol Genet Genomic Med 2016 May 19;4(3):312-21. Epub 2016 Jan 19.
Departments of Biochemistry & Medical GeneticsUniversity of ManitobaWinnipegCanada; Pediatrics & Child HealthUniversity of Manitoba745 Bannatyne Ave.WinnipegMB R3E 0J9Canada; Clinical Biochemistry and GeneticsDiagnostic Services Manitoba at Health Sciences CentreWinnipegMB R3A 1R9Canada.

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Brain 2016 Mar 10;139(Pt 3):e19. Epub 2015 Dec 10.
2 Department of Human Genetics, McGill University, Montreal, Québec, Canada 4 McGill University and Genome Quebec Innovation Centre, Montreal, Québec, Canada



Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.
Neurol Genet 2016 Feb 22;2(1):e38. Epub 2015 Dec 22.
Division of Medical Genetics (P.F.), Alberta Children's Hospital, Calgary, Alberta, Canada; Department of Genetics (S.M.L., S.L.S., K.M.B., D.A.D.) and Department of Radiology (J.D., D.A.D.) Children's Hospital of Eastern Ontario, Ottawa, Canada; and Children's Hospital of Eastern Ontario Research Institute (K.M.B.), University of Ottawa, Canada.

Consent Codes: Upholding Standard Data Use Conditions.
PLoS Genet 2016 Jan 21;12(1):e1005772. Epub 2016 Jan 21.
National Centre for Biotechnology Information, US National Library of Medicine, Bethesda, Maryland, United States of America.



Homozygous mutation in the eukaryotic translation initiation factor 2alpha phosphatase gene, PPP1R15B, is associated with severe microcephaly, short stature and intellectual disability.
Hum Mol Genet 2015 Nov 24;24(22):6293-300. Epub 2015 Aug 24.
Children's Hospital of Eastern Ontario Research Institute, Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, Canada K1H 8L1





Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2.
Neuromuscul Disord 2015 Oct 5;25(10):794-9. Epub 2015 Aug 5.
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada. Electronic address:

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Nat Cell Biol 2015 Aug 13;17(8):1074-1087. Epub 2015 Jul 13.
Section of Ophthalmology and Neuroscience, Leeds Institutes of Molecular Medicine, University of Leeds, Leeds, LS9 7TF, UK.




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.

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.


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).

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms.
Mol Genet Genomic Med 2014 Nov 15;2(6):539-47. Epub 2014 Sep 15.
The Centre for Applied Genomics, The Hospital for Sick Children Toronto, Ontario, Canada ; Division of Molecular Genetics, The Hospital for Sick Children Toronto, Ontario, Canada ; Department of Molecular Genetics, The University of Toronto Toronto, Ontario, Canada.






A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.
Eur J Hum Genet 2014 Jun 6;22(6):844-6. Epub 2013 Nov 6.
Department of Human Genetics, Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands.


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:




SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.
Eur J Hum Genet 2016 07 2;24(7):1016-21. Epub 2015 Dec 2.
Neurogenetics of Motion Laboratory, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Québec, Canada.

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.
Eur J Hum Genet 2017 02 26;25(2):162-165. Epub 2016 Oct 26.
Department of Genetics, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

When One Diagnosis Is Not Enough.
N Engl J Med 2017 01 7;376(1):83-85. Epub 2016 Dec 7.
From the Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.), and the Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB (A.M.I.) - both in Canada.




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