Publications by authors named "Chandree L Beaulieu"

28Publications

A family segregating lethal neonatal coenzyme Q deficiency caused by mutations in COQ9.

J Inherit Metab Dis 2018 07 20;41(4):719-729. Epub 2018 Mar 20.

Maritime Medical Genetics Service, IWK Health Centre, 5850 University Avenue, P.O. Box 9700, Halifax, NS, B3K 6R8, Canada.

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http://dx.doi.org/10.1007/s10545-017-0122-7DOI Listing
July 2018

Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.

Am J Med Genet A 2017 May 28;173(5):1452. Epub 2017 Mar 28.

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan.

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http://dx.doi.org/10.1002/ajmg.a.38227DOI Listing
May 2017

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.

Invest Ophthalmol Vis Sci 2017 03;58(3):1736-1742

Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.

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http://dx.doi.org/10.1167/iovs.16-20864DOI Listing
March 2017

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.

Am J Med Genet A 2017 Mar 27;173(3):596-600. Epub 2016 Sep 27.

Division of Medical Genetics, Department of Pediatrics, University of Saskatchewan, Saskatoon, SK, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37983DOI Listing
March 2017

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.

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http://www.nature.com/articles/ncb3201
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http://dx.doi.org/10.1038/ncb3201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536769PMC
August 2015

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.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.09.005DOI Listing
February 2015

Identification of genes for childhood heritable diseases.

Annu Rev Med 2014 ;65:19-31

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1 Canada; email: , , , , .

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http://dx.doi.org/10.1146/annurev-med-101712-122108DOI Listing
September 2014

A generalizable pre-clinical research approach for orphan disease therapy.

Orphanet J Rare Dis 2012 Jun 15;7:39. Epub 2012 Jun 15.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1186/1750-1172-7-39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458970PMC
June 2012