Publications by authors named "Tanya N Nelson"

25Publications

Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

Int J Neonatal Screen 2020 Jun 2;6(2):46. Epub 2020 Jun 2.

Department of Pathology and Laboratory Medicine, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3N1, Canada; (T.N.N.); (H.V.).

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http://dx.doi.org/10.3390/ijns6020046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423010PMC
June 2020

Integration of genetic counsellors in genomic testing triage: Outcomes of a Genomic Consultation Service in British Columbia, Canada.

Eur J Med Genet 2020 Aug 13:104024. Epub 2020 Aug 13.

Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2020.104024DOI Listing
August 2020

Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison.

Clin Biochem 2020 Jul 6;81:27-33. Epub 2020 May 6.

Department of Laboratory Medicine and Genetics, Trillium Health Partners, 2200 Eglinton Ave West, Mississauga, ON L5M 2N1, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, 1 King's College Circle, Toronto, ON M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2020.05.001DOI Listing
July 2020

Null: A novel α-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn.

Clin Biochem 2020 May 19;79:23-27. Epub 2020 Feb 19.

Department of Pathology and Laboratory Medicine, St. Paul's Hospital, BC, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, BC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2020.02.013DOI Listing
May 2020

Renpenning syndrome in a female.

Am J Med Genet A 2020 03 16;182(3):498-503. Epub 2019 Dec 16.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.61451DOI Listing
March 2020

CCMG practice guideline: laboratory guidelines for next-generation sequencing.

J Med Genet 2019 12 12;56(12):792-800. Epub 2019 Jul 12.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

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http://dx.doi.org/10.1136/jmedgenet-2019-106152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929709PMC
December 2019

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.

Am J Hum Genet 2019 04;104(4):578-595

Social Issues Committee, American Society of Human Genetics, Rockville, MD 20852, USA; Division of General Internal Medicine, Department of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA.

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http://dx.doi.org/10.1016/j.ajhg.2019.02.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451731PMC
April 2019

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.

Genet Med 2018 09 4;20(9):1013-1021. Epub 2018 Jan 4.

Collaboration for Outcomes Research and Evaluation (CORE), Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/gim.2017.226DOI Listing
September 2018

Choosing Wisely Canada: The Canadian College of Medical Geneticists' (CCMG) list of five items physicians and patients should question.

J Med Genet 2018 02 19;55(2):86-88. Epub 2017 Aug 19.

Department of Medical Genetics, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2017-104924DOI Listing
February 2018

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

Pediatr Neurol 2017 Oct 8;75:87-90. Epub 2017 Jun 8.

Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.06.003DOI Listing
October 2017

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Am J Hum Genet 2017 Jan 23;100(1):138-150. Epub 2016 Dec 23.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Windmill Road, Headington, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223060PMC
January 2017

De novo mutation in 2 patients with neonatal-onset epilepsy.

Neurol Genet 2016 Dec 10;2(6):e120. Epub 2016 Nov 10.

Centre for Applied Neurogenetics (CAN), Department of Medical Genetics (I.G., M.B.M., D.M.E., M.J.F.), Division of Neurology (L.H., E.B.T., S.E.B., M.B.C., M.D.), Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, Canada; Department of Neurology (E.M.B.), University of Alabama at Birmingham; HudsonAlpha Institute for Biotechnology (M.L.T., G.M.C.), Huntsville, AL; Department of Medical Genetics (S.A., M.I.V.A.), University of British Columbia, Vancouver, Canada; and Departments of Pathology and Laboratory Medicine (T.N.N.), University of British Columbia and BC Children's Hospital, Vancouver, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113095PMC
December 2016

Incidental finding of paternal UPD15 in a child with a deletion of 11q21-q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features.

Clin Dysmorphol 2016 Apr;25(2):77-81

Departments of aPathology and Laboratory Medicine bMedical Genetics, University of British Columbia cChild and Family Research Institute, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1097/MCD.0000000000000108DOI Listing
April 2016

Uniparental disomy: can SNP array data be used for diagnosis?

Genet Med 2013 26;14(8):753-756. Epub 2012 Apr 26.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/gim.2012.35DOI Listing
April 2012

Alpha1-antitrypsin deficiency: a clinical-genetic overview.

Appl Clin Genet 2011 31;4:55-65. Epub 2011 Mar 31.

Department of Medicine, Respiratory Division, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.2147/TACG.S10604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681178PMC
June 2013

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.

Mov Disord 2009 Apr;24(5):778-82

Department of Pediatric Neurology, British Columbia's Children's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/mds.22467DOI Listing
April 2009

Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12.

Am J Med Genet A 2007 Aug;143A(15):1806-8

Department of Medical Genetics, University of British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31818DOI Listing
August 2007

Severe FVII deficiency caused by a new point mutation combined with a previously undetected gene deletion.

Br J Haematol 2005 Feb;128(3):380-5

Department of Biochemistry and Molecular Biology, University of Bristish Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1111/j.1365-2141.2004.05296.xDOI Listing
February 2005