Publications by authors named "Tracy Stockley"

67Publications

Tumor and germline next generation sequencing in high grade serous cancer: experience from a large population-based testing program.

Mol Oncol 2020 Oct 8. Epub 2020 Oct 8.

Laboratory Medicine Program, Division of Clinical Laboratory Genetics, University Health Network, Toronto, Canada.

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http://dx.doi.org/10.1002/1878-0261.12817DOI Listing
October 2020

Across barriers: poly ADP-ribose polymerase inhibitors beyond progression in high grade serous ovarian cancer with brain metastases.

Int J Gynecol Cancer 2020 Sep 30. Epub 2020 Sep 30.

Medical Oncology and Hematology, Princess Margaret Hospital Cancer Centre, Toronto, Ontario, Canada

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http://dx.doi.org/10.1136/ijgc-2020-001849DOI Listing
September 2020

Year 1: Experiences of a tertiary cancer centre following implementation of reflex BRCA1 and BRCA2 tumor testing for all high-grade serous ovarian cancers in a universal healthcare system.

Gynecol Oncol 2020 Sep 14;158(3):747-753. Epub 2020 Jul 14.

Lawrence S Bloomberg Faculty of Nursing, University of Toronto, 155 College Street, Toronto, ON M5T 1P8, Canada; Women's College Research Institute, 72 Grenville Street, Toronto, ON M5S 1B2, Canada.

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http://dx.doi.org/10.1016/j.ygyno.2020.06.507DOI Listing
September 2020

Poly (ADP Ribose) Polymerase Inhibitors for Cancer: Essential Biologic, Diagnostic, and Therapeutic Concepts for Today's Practitioner.

J Mol Diagn 2020 Sep 20;22(9):1126-1128. Epub 2020 Jun 20.

PARP Inhibitor (PARPi) Series Content Committee of the Training and Education Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Clinical Laboratory Genetics, University Heath Network, Toronto, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jmoldx.2020.06.002DOI Listing
September 2020

Clinical implementation of circulating tumour DNA testing for T790M for detection of treatment resistance in non-small cell lung cancer.

J Clin Pathol 2020 May 29. Epub 2020 May 29.

Division of Clinical Laboratory Genetics, University Health Network, Toronto, Ontario, Canada

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http://dx.doi.org/10.1136/jclinpath-2020-206668DOI Listing
May 2020

Assessing the Diagnostic Yield of Targeted Next-Generation Sequencing for Melanoma and Gastrointestinal Tumors.

J Mol Diagn 2020 04 6;22(4):467-475. Epub 2020 Feb 6.

Advanced Molecular Diagnostics Laboratory, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario; Division of Genome Diagnostics, Department of Clinical Laboratory Genetics, Laboratory Medicine Program, University Health Network, Toronto, Ontario; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2019.12.008DOI Listing
April 2020

Molecular profiling for precision cancer therapies.

Genome Med 2020 01 14;12(1). Epub 2020 Jan 14.

Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, Department of Medicine, University Avenue, University of Toronto, Toronto, Ontario, M5G 1Z5, Canada.

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http://dx.doi.org/10.1186/s13073-019-0703-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6961404PMC
January 2020

Molecular characterization of gastric-type endocervical adenocarcinoma using next-generation sequencing.

Mod Pathol 2019 12 15;32(12):1823-1833. Epub 2019 Jul 15.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41379-019-0305-xDOI Listing
December 2019

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

Effect of Coexisting KRAS and TP53 Mutations in Patients Treated With Chemotherapy for Non-small-cell Lung Cancer.

Clin Lung Cancer 2019 05 19;20(3):e338-e345. Epub 2018 Dec 19.

Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network and Department of Medicine, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1016/j.cllc.2018.12.009DOI Listing
May 2019

Modified panel-based genetic counseling for ovarian cancer susceptibility: A randomized non-inferiority study.

Gynecol Oncol 2019 04 10;153(1):108-115. Epub 2019 Jan 10.

Gynecologic Oncology, Princess Margaret Cancer Centre, The University Health Network, Toronto, ON, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00908258183154
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http://dx.doi.org/10.1016/j.ygyno.2018.12.027DOI Listing
April 2019

Somatic Tumor Variant Filtration Strategies to Optimize Tumor-Only Molecular Profiling Using Targeted Next-Generation Sequencing Panels.

J Mol Diagn 2019 03 19;21(2):261-273. Epub 2018 Dec 19.

Advanced Molecular Diagnostics Laboratory, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada; Department of Clinical Laboratory Genetics, Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2018.09.008DOI Listing
March 2019

P53 Gene Mutation Identified by Next Generation Sequencing in Poorly Differentiated Neuroendocrine Carcinoma of the Nasal Cavity.

Head Neck Pathol 2019 Sep 29;13(3):516-522. Epub 2018 May 29.

Laboratory Medicine Program, University Health Network, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s12105-018-0934-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6684699PMC
September 2019

Integration of Technical, Bioinformatic, and Variant Assessment Approaches in the Validation of a Targeted Next-Generation Sequencing Panel for Myeloid Malignancies.

Arch Pathol Lab Med 2017 Jun 9;141(6):759-775. Epub 2017 Mar 9.

From the Laboratory Medicine Program, Advanced Molecular Diagnostics Laboratory, Departments of Pathology and Genetics (Drs Thomas, Sukhai, Garg, Misyura, Stockley, and Kamel-Reid), the Princess Margaret Cancer Centre (Drs Thomas, Sukhai, Garg, Misyura, Pugh, Stockley, and Kamel-Reid and Ms Zhang), and High Performance Computing and Bioinformatics Services, Princess Margaret Genomics Centre (Dr Harbi and Mr Dolatshahi), University Health Network, Toronto, Ontario, Canada; and the Departments of Medical Biophysics (Drs Pugh and Kamel-Reid) and Laboratory Medicine and Pathobiology (Drs Stockley and Kamel-Reid), The University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.5858/arpa.2016-0547-RADOI Listing
June 2017

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Am J Hum Genet 2017 May;100(5):773-788

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420353PMC
May 2017

Comparison of Next-Generation Sequencing Panels and Platforms for Detection and Verification of Somatic Tumor Variants for Clinical Diagnostics.

J Mol Diagn 2016 11;18(6):842-850

Advanced Molecular Diagnostics Laboratory, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada; Department of Laboratory Genetics, Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.06.004DOI Listing
November 2016

Testing ERBB2 p.L755S kinase domain mutation as a druggable target in a patient with advanced colorectal cancer.

Cold Spring Harb Mol Case Stud 2016 Sep;2(5):a001016

Drug Development Program, Division of Medical Oncology and Hematology; Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario M5S 1A8, Canada;; Department of Medicine, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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http://dx.doi.org/10.1101/mcs.a001016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002925PMC
September 2016

Establishment and Characterization of a Human Neuroendocrine Tumor Xenograft.

Endocr Pathol 2016 Jun;27(2):97-103

Princess Margaret Hospital, University Health Network, Toronto, Ontario, M5G 2M9, Canada.

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http://dx.doi.org/10.1007/s12022-016-9429-4DOI Listing
June 2016

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

G3 (Bethesda) 2015 Jul 2;5(8):1775-81. Epub 2015 Jul 2.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada Department of Medicine, University of Toronto, Toronto, ON, Canada Department of Pediatrics, University of Toronto, Toronto, ON, Canada

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http://dx.doi.org/10.1534/g3.115.019851DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4528333PMC
July 2015

A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer.

Genet Med 2016 Feb 16;18(2):128-36. Epub 2015 Apr 16.

Laboratory Medicine Program, Advanced Molecular Diagnostics Laboratory, Department of Pathology, University Health Network, Toronto, Ontario, Canada.

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http://www.nature.com/articles/gim201547
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http://dx.doi.org/10.1038/gim.2015.47DOI Listing
February 2016

Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2014 Oct 29;164A(10):2682-4. Epub 2014 Jul 29.

Department of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada; Department of Human Genetics, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36682DOI Listing
October 2014

Periventricular nodular heterotopia and transverse limb reduction defect in a woman with interstitial 11q24 deletion in the Jacobsen syndrome region.

Am J Med Genet A 2014 Feb 5;164A(2):511-5. Epub 2013 Dec 5.

Department of Clinical Genetics, Lakeridge Health Oshawa, Oshawa, Ontario, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.36292
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http://dx.doi.org/10.1002/ajmg.a.36292DOI Listing
February 2014

Danon Disease Due to a Novel LAMP2 Microduplication.

JIMD Rep 2014 13;14:11-6. Epub 2013 Nov 13.

Division of Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

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http://dx.doi.org/10.1007/8904_2013_277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213339PMC
October 2014

A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.

Hum Mutat 2013 Jan 11;34(1):66-9. Epub 2012 Oct 11.

Faculty of Medicine, Memorial University, St John's, Newfoundland and Labrador, Canada.

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http://dx.doi.org/10.1002/humu.22205DOI Listing
January 2013

CDKN1C mutations and genital anomalies.

Am J Med Genet A 2012 Jan 2;158A(1):265. Epub 2011 Dec 2.

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http://dx.doi.org/10.1002/ajmg.a.34388DOI Listing
January 2012

Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome.

Am J Med Genet A 2010 Dec;152A(12):3179-81

Division of Medical Genetics, Children's Hospital & Research Center Oakland, Oakland, California 94609, USA.

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http://dx.doi.org/10.1002/ajmg.a.33450DOI Listing
December 2010

Pediatric cholesteatoma and variants in the gene encoding connexin 26.

Laryngoscope 2010 Jan;120(1):183-7

Department of Otolaryngology, The Hospital for Sick Children, Ontario, Canada.

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http://dx.doi.org/10.1002/lary.20649DOI Listing
January 2010

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.

Am J Med Genet A 2009 Mar;149A(3):322-7

Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32679DOI Listing
March 2009

Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis.

J Pediatr Hematol Oncol 2008 Aug;30(8):621-4

Molecular Hematopathology Laboratory, Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/MPH.0b013e31817580fdDOI Listing
August 2008

Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation.

Int J Pediatr Otorhinolaryngol 2008 May 3;72(5):693-8. Epub 2008 Mar 3.

Department of Otolaryngology Head and Neck Surgery, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.ijporl.2008.01.017DOI Listing
May 2008

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.

Mol Genet Metab 2008 Mar 26;93(3):331-40. Epub 2007 Nov 26.

Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Que., Canada J1H 5N4.

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http://dx.doi.org/10.1016/j.ymgme.2007.10.001DOI Listing
March 2008

Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis.

Am J Med Genet A 2007 Dec;143A(24):2931-6

Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31946DOI Listing
December 2007

Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

Genet Test 2006 ;10(4):229-43

Molecular Genetics Laboratory, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1089/gte.2006.10.229DOI Listing
April 2007

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

J Biol Chem 2007 Mar 21;282(12):9150-61. Epub 2007 Jan 21.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1074/jbc.M609304200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1851921PMC
March 2007

Temporal bone imaging in GJB2 deafness.

Laryngoscope 2006 Dec;116(12):2178-86

Cochlear Implant Program, Department of Otolaryngology-Head and Neck Surgery, Molecular Genetics Laboratory, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1097/01.mlg.0000244389.68568.a7DOI Listing
December 2006

The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Pediatrics 2006 Nov 2;118(5):e1550-62. Epub 2006 Oct 2.

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, 555 University Ave, Toronto, Ontario, Canada M5G 1X8.

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http://dx.doi.org/10.1542/peds.2006-0588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2910078PMC
November 2006

Auditory responses in cochlear implant users with and without GJB2 deafness.

Laryngoscope 2006 Feb;116(2):317-27

Department of Otolaryngology-Head and Neck Surgery and the Molecular Genetics Laboratory, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/01.mlg.0000199401.26626.4bDOI Listing
February 2006

Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program.

Int J Pediatr Otorhinolaryngol 2006 Mar 24;70(3):435-44. Epub 2005 Aug 24.

Cochlear Implant Program, Department of Otolaryngology, The Hospital for Sick Children, Toronto, Ont., Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.ijporl.2005.07.013DOI Listing
March 2006

Providing information at the point of care: educational diagnostic reports from a genetic testing service provider.

Clin Leadersh Manag Rev 2004 Jan-Feb;18(1):11-24

York University, Toronto, Ontario, Canada.

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March 2004

Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.

Am J Med Genet A 2004 Jan;124A(2):142-7

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

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http://dx.doi.org/10.1002/ajmg.a.20334DOI Listing
January 2004

Multiplexed fluorescence analysis for mutations causing Tay-Sachs disease.

Methods Mol Biol 2003 ;217:131-41

Division of Molecular Genetics, Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1385/1-59259-330-5:131DOI Listing
April 2003

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Hum Mol Genet 2002 May;11(11):1317-25

Division of Clinical and Metabolic Genetics and the Research Institute, Department of Paediatrics Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1093/hmg/11.11.1317DOI Listing
May 2002