Publications by authors named "Taila Hartley"

50Publications

Application of exome sequencing for prenatal diagnosis: a rapid scoping review.

Genet Med 2020 Aug 4. Epub 2020 Aug 4.

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

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http://dx.doi.org/10.1038/s41436-020-0918-yDOI Listing
August 2020

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.

Annu Rev Genomics Hum Genet 2020 Aug 13;21:351-372. Epub 2020 Apr 13.

CHEO Research Institute, University of Ottawa, Ottawa, Ontario K1H 8L1, Canada; email:

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http://dx.doi.org/10.1146/annurev-genom-083118-015345DOI Listing
August 2020

When to think outside the autozygome: Best practices for exome sequencing in "consanguineous" families.

Clin Genet 2020 Jun 30;97(6):835-843. Epub 2020 Mar 30.

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

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http://dx.doi.org/10.1111/cge.13736DOI Listing
June 2020

Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada.

Can J Neurol Sci 2019 Oct 7:1-8. Epub 2019 Oct 7.

Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1017/cjn.2019.304DOI Listing
October 2019

p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.

Clin Genet 2019 11 13;96(5):449-455. Epub 2019 Aug 13.

Department of Pediatrics, Dalhousie University and IWK Health Centre, Halifax, Nova Scotia, Canada.

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http://dx.doi.org/10.1111/cge.13618DOI Listing
November 2019

The value of diagnostic testing for parents of children with rare genetic diseases.

Genet Med 2019 12 26;21(12):2798-2806. Epub 2019 Jun 26.

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

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http://dx.doi.org/10.1038/s41436-019-0583-1DOI Listing
December 2019

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.

Eur J Med Genet 2019 Jul 6;62(7):103662. Epub 2019 May 6.

Department of Medical Genetics, University of Pécs, Medical School, Pécs, Hungary; Szentágothai Research Centre, University of Pécs, Pécs, Hungary.

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http://dx.doi.org/10.1016/j.ejmg.2019.05.001DOI Listing
July 2019

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

Eur J Med Genet 2020 Feb 27;63(2):103655. Epub 2019 Apr 27.

Department of Medical Genetics, University of Pécs, Clinical Center, Medical School, Pécs, Hungary; Szentágothai Research Centre, University of Pécs, Pécs, Hungary.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183073
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http://dx.doi.org/10.1016/j.ejmg.2019.04.012DOI Listing
February 2020

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

Cell 2019 03;177(1):32-37

Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Genetic Services of Western Australia, Perth, WA, Australia; Office of Population Health Genomics, Western Australian Department of Health, Perth, WA, Australia.

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https://linkinghub.elsevier.com/retrieve/pii/S00928674193022
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http://dx.doi.org/10.1016/j.cell.2019.02.040DOI Listing
March 2019

NID1 variant associated with occipital cephaloceles in a family expressing a spectrum of phenotypes.

Am J Med Genet A 2019 05 17;179(5):837-841. Epub 2019 Feb 17.

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

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http://doi.wiley.com/10.1002/ajmg.a.61095
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http://dx.doi.org/10.1002/ajmg.a.61095DOI Listing
May 2019

Lysosomal dysfunction in hypomyelinating leukodystrophy.

Neurol Genet 2018 Dec 13;4(6):e288. Epub 2018 Nov 13.

Children's Hospital of Eastern Ontario Research Institute (Y.I., T.H., S.B., K.M.B., D.A.D., K.D.K.), Ottawa, Ontario, Canada; Division of Neurology (S.V.), Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Institute for Molecular Bioscience (C.S.), University of Queensland, St. Lucia, Queensland, Australia; and Department of Child Neurology (N.I.W.), VU University Medical Center, and Amsterdam Neuroscience, Amsterdam, The Netherlands.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317987PMC
December 2018

The unsolved rare genetic disease atlas? An analysis of the unexplained phenotypic descriptions in OMIM®.

Am J Med Genet C Semin Med Genet 2018 12;178(4):458-463

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

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http://doi.wiley.com/10.1002/ajmg.c.31662
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http://dx.doi.org/10.1002/ajmg.c.31662DOI Listing
December 2018

ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants.

Am J Hum Genet 2018 10 13;103(4):474-483. Epub 2018 Sep 13.

Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2018.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174354PMC
October 2018

Novel mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).

Neurol Genet 2018 Aug 26;4(4):e263. Epub 2018 Jul 26.

Department of Medicine (Neurology) (P.R.B., J.W-C., D.A.L.), University of Ottawa; Ottawa Hospital Research Institute (P.R.B., J.W-C.); Department of Medicine (Dermatology) (L.L., C.K.), University of Ottawa; Department of Anatomical Pathology (S.H.B.), University of Ottawa; and Department of Genetics (J.W-C., T.H., K.M.B.), Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066365PMC
August 2018

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Am J Hum Genet 2018 07 28;103(1):144-153. Epub 2018 Jun 28.

NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.06.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6037130PMC
July 2018

Evaluation of exome filtering techniques for the analysis of clinically relevant genes.

Hum Mutat 2018 02 14;39(2):197-201. Epub 2017 Dec 14.

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

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http://dx.doi.org/10.1002/humu.23374DOI Listing
February 2018

A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.

Eur J Med Genet 2018 Feb 21;61(2):89-93. Epub 2017 Oct 21.

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

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http://dx.doi.org/10.1016/j.ejmg.2017.10.011DOI Listing
February 2018

Fragile X testing as a second-tier test.

Genet Med 2017 12 14;19(12). Epub 2017 Sep 14.

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

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http://dx.doi.org/10.1038/gim.2017.147DOI Listing
December 2017

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.

Am J Med Genet A 2017 Jul 9;173(7):1839-1847. Epub 2017 May 9.

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

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http://dx.doi.org/10.1002/ajmg.a.38250DOI Listing
July 2017

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

J Hum Genet 2017 Jun 23;62(6):661-663. Epub 2017 Feb 23.

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

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http://dx.doi.org/10.1038/jhg.2017.18DOI Listing
June 2017

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.

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http://dx.doi.org/10.1002/mgg3.223DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023935PMC
September 2016

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.

Am J Med Genet A 2017 Jan 15;173(1):126-134. Epub 2016 Sep 15.

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

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http://dx.doi.org/10.1002/ajmg.a.37973DOI Listing
January 2017

Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation.

Am J Med Genet A 2016 Apr 11;170A(4):1070-5. Epub 2016 Jan 11.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37541DOI Listing
April 2016

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Am J Hum Genet 2015 Oct 10;97(4):608-15. Epub 2015 Sep 10.

Department of Genetics, King Faisal and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596891PMC
October 2015

Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.

Curr Neurol Neurosci Rep 2015 Sep;15(9):64

Division of Neurology, The Ottawa Hospital, 1053 Carling Avenue, Ottawa, ON, K1Y 4E9, Canada.

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http://link.springer.com/content/pdf/10.1007/s11910-015-0584
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http://link.springer.com/10.1007/s11910-015-0584-7
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http://dx.doi.org/10.1007/s11910-015-0584-7DOI Listing
September 2015

Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada.

Hered Cancer Clin Pract 2014 28;12(1):19. Epub 2014 Aug 28.

Program in Cancer Genetics, Departments of Oncology and Human Genetics, Gerald Bronfman Centre for Clinical Research in Oncology, McGill University, Montreal, QC, Canada ; Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, McGill University, Montreal, QC, Canada ; Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.

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http://dx.doi.org/10.1186/1897-4287-12-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4163678PMC
September 2014

Endoplasmic reticulum stress response in an INS-1 pancreatic beta-cell line with inducible expression of a folding-deficient proinsulin.

BMC Cell Biol 2010 Jul 26;11:59. Epub 2010 Jul 26.

Division of Cellular and Molecular Biology, Toronto General Research Institute, University Health Network, 101 College Street, TMDT 10-706, Toronto M5G 1L7, Canada.

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http://dx.doi.org/10.1186/1471-2121-11-59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2921384PMC
July 2010

Emerging roles for the ubiquitin-proteasome system and autophagy in pancreatic beta-cells.

Am J Physiol Endocrinol Metab 2009 Jan 23;296(1):E1-10. Epub 2008 Sep 23.

Division of Cell and Molecular Biology, Toronto General Research Institute, University Health Network, Toronto, ON, M5G 1L7 Canada.

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http://dx.doi.org/10.1152/ajpendo.90538.2008DOI Listing
January 2009