PhD, FCCMG, FACMG
- Board of Directors of the Canadian College of Medical Geneticists
- Canadian representative to the International Organization for Standardization Working Group on Molecular Diagnostics
- Laboratory Accrediation Advisory Panel for the Institute for Quality Management in Healthcare
Dr Stockley is a clinical molecular geneticist and Associate Director of the Molecular Diagnostics Division at the University Health Network, providing leadership within the two divisional molecular diagnostic laboratories.
She is a member of the Board of Directors of the Canadian College of Medical Geneticists, the Canadian representative to the International Organization for Standardization Working Group on Molecular Diagnostics, and a member of the Laboratory Accrediation Advisory Panel for the Institute for Quality Management in Healthcare.
Dr Stockley's interests include the development of novel molecular diagnostic testing using high-throughput methodologies, and implementation and evaluation of genetic and genomic tests, particularly for acquired and inherited cancers.
My research interests include:
- development of genomic tests for molecular diagnostics
- application of new technologies such as Next-Generation Sequencing to clinical care for acquired and inherited disease
- quality management for high-complexity clinical laboratory testing.
Genomic Sequencing in Clinical Molecular Diagnostics
The field of clinical molecular diagnostics is undergoing a rapid evolution due to new sequencing technologies which allow extensive genomic sequencing to identify novel pathogenic genetic disease variants.
My research interests in this area include the evaluation of genomic sequencing technologies in the clinical laboratory setting to define:
- diagnostic yield for genetically heterogeneous conditions;
- quality management of genomic sequencing for clinical laboratory use; and
- impact of genomic sequencing on clinical laboratory efficiency and effectiveness.
Molecular Diagnostics for Acquired and Inherited Cancers
Cancer is a heterogeneous disease that can be subdivided based on molecular findings into subtypes with differing prognosis, treatment and outcomes.
My research interests are in defining the genetic basis of acquired somatic cancers and inherited germline cancers for improving the predictive and prognostic benefit of molecular diagnostic testing
Molecular Diagnostics Division, University Health Network
The Molecular Diagnostics Division, University Health Network, is one of Canada’s largest molecular pathology diagnostic services and is dedicated to clinical excellence, education and research in molecular diagnostics.
The Division is comprised of two laboratories:
- the Molecular Diagnostics Laboratory at Toronto General Hospital: a high-volume laboratory with expertise in molecular testing of solid tumors, hematologic malignancies and inherited adult disorders, and acts as a national referral centre for areas of specialty
- the Advanced Molecular Diagnostic Laboratory at Princess Margaret Cancer Centre: focused on test development and translation of new tests into clinical service, particularly applications of next-generation genomic sequencing for inherited and acquired cancers, and works closely with clinical colleagues on genetic testing for clinical trials, drug development, and patient management.
The Division contributes educational resources for trainees in the Department of Laboratory Medicine and Pathobiology in clinical molecular pathology and molecular diagnostics.
Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR, Hall DA, Dell SD, Kim RH. Whole exome sequencing and targeted copy number anlysis in primary ciliar dyskinesia. 2G3 (Bethesda). 2015 Jul 2. pii: g3.115.019851. doi: 10.1534/g3.115.019851. [Epub ahead of print].
Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers B, Laberge AM, Majewski J, Mendoza-Londono R, Meyn S, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley TL, Taylor S, van Karnebeek C, Zawati M, Lauzon J, Armour C. The clinical application of genome-wide sequencing for monogenic diseases in Canada.Position Statement of the Canadian College of Medical Geneticists. J Med Genet. 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7.
Marshall CR, Farrell SA, Cushing D, Stockley TL, Stavropoulos DJ, Ray PN, Szego M, Lau L, Pereira SL, Cohn RD, Wintle FR, Abuzenadah AM, Abu-Elmagd M, Scherer SW. Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. BMC Genomics. 2015;16 Suppl 1:S12. doi: 10.1186/1471-2164-16-S1-S12. Epub 2015 Jan 15
Noor A, Dupuis L, Mittal K, Lionel AC, Marshall CR, Scherer SW, Stockley TL, Vincent JB, Mendoza-Londono R, Stavropoulos DJ. 15q11.2 duplication encompassing only the UBE3A gene is associated with developmental delay and neuropsychiatric phenotypes. Hum Mutat. 2015 Jul;36(7):689-93. doi: 10.1002/humu.22800.
Sukhai MA, Craddock KJ, Thomas M, Hansen AR, Zhang T, Siu L, Bedard P, Stockley TL, Kamel-Reid S. A classification system for clinical relevance of somatic variants identified in molecular profiling of cancer. Genet Med. 2015 Apr 16. doi: 10.1038/gim.2015.47. [Epub ahead of print]
Agatep R, Shuman C, Steele L, Parkinson N, Weksberg R, Stockley TL. Paternal germline mosacisim for a GPC3 deletion in X-linked Simpson-Golabi-Behmel Syndrome. Am J Med Genet A. 2014 Oct;164A(10):2682-4. doi: 10.1002/ajmg.a.36682. Epub 2014 Jul 29.
Stanton SG, Griffin A, Stockley TL, Brown C, Young TL, Benteau T, Abdelfatah N. X-linked hearing loss: Two gene mutation examples provide generalizable implications for clinical care. Am J Audiol. 2014 Jun;23(2):190-200. doi: 10.1044/2014_AJA-13-0040.
So J, Stockley TL, Stavropoulos DJ. Periventricular nodular heterotopia and trasverse limb reduction defect in a woman with interstitial 11q24 deletionc in the Jacobsen syndrom region. Am J Med Genet A. 2014;164A(2):511-515.
Lines MA, Hewson S, Halliday W, Sabatini PJ, Stockley T, Dipchand AI, Bowdin S, Siriwardena K. Danon Disease Due to a Novel LAMP2 Microduplication. JIMD Rep. 2014;14:11-6.
Hoefsloot LH, Roux AF, Bitner-Glindzicz M, Hardy C, Strena O, Neocleous V, Kahre T, Seeman P, Wuyts W, Stockley TL, Bondeson ML, del Castillo I, Admiraal R, Kremer H. EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at he DFNB1 locus. Eur J Hum Genet. 2013;21(11):1325-1329.
Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL. 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;34(1):66-9.
Welsh HI, Stockley TL, Parkinson N, Ardinger HH. CDCKN1C mutations and genital anomalies. Am J Med Genet A. 2012 Jan;158A(1):265
Associate Director, Molecular Diagnostics Division, University Health Network