List of works - Tracy Stockley

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

scientific article published in July 2015

A Canadian guideline on the use of next-generation sequencing in oncology

article

A Clinical and Molecular Phase II Trial of Oral ENMD-2076 in Ovarian Clear Cell Carcinoma (OCCC): A Study of the Princess Margaret Phase II Consortium

scientific article published on 14 August 2018

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

scientific article published on 16 April 2015

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

scientific article published on 11 October 2012

A recurrentEYA1mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism

scientific article published on 01 March 2009

AML refractory to primary induction with Ida-FLAG has a poor clinical outcome.

scientific article published on 20 February 2018

Additional germline findings from a tumor profiling program

scientific article published on 9 August 2018

Auditory responses in cochlear implant users with and without GJB2 deafness

scientific article published on February 2006

CCMG practice guideline: laboratory guidelines for next-generation sequencing

scientific article published on 12 July 2019

CDKN1C mutations and genital anomalies

scientific article published on 02 December 2011

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

scientific article

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

scientific article published on 29 May 2020

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

scientific article published in November 2016

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

article

Danon Disease Due to a Novel LAMP2 Microduplication

scientific article

Data resources for the identification and interpretation of actionable mutations by clinicians.

scientific article

Distinct patterns of clonal evolution in patients with concurrent myelo- and lymphoproliferative neoplasms

scientific article published on 24 September 2018

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

scientific article published on 19 December 2018

Establishment and Characterization of a Human Neuroendocrine Tumor Xenograft

scientific article published on 11 April 2016

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

scientific article published on 24 August 2005

Evidence-based best practices for EGFR T790M testing in lung cancer in Canada.

scientific article

Functional disomy of Xp: prenatal findings and postnatal outcome

scientific article published on 01 May 2005

Genotype-matched treatment for patients with advanced type I epithelial ovarian cancer (EOC).

scientific article

Identifying actionable variants using next generation sequencing in patients with a historical diagnosis of undifferentiated pleomorphic sarcoma.

scientific article published on 10 September 2017

Impact of genomic alterations on outcomes in myelofibrosis patients undergoing JAK1/2 inhibitor therapy

scientific article published on 08 September 2017

Impact of multi-gene mutational profiling on clinical trial outcomes in metastatic breast cancer.

scientific article published on 24 November 2017

Impact of preleukemic mutations and their persistence on hematologic recovery after induction chemotherapy for AML

scientific article published on 01 August 2019

Impact of somatic molecular profiling on clinical trial outcomes in rare epithelial gynecologic cancer patients

scientific article published on 18 February 2019

Improving validation methods for molecular diagnostics: application of Bland-Altman, Deming and simple linear regression analyses in assay comparison and evaluation for next-generation sequencing.

scientific article

In Reference toTemporal Bone Imaging inGJB2Deafness

article

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

scientific article published on 9 March 2017

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

scientific article published on 10 January 2019

Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial.

scientific article published on 25 October 2016

Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously.

scientific article published on 19 November 2010

Novel Mutation of the Perforin Gene and Maternal Uniparental Disomy 10 in a Patient With Familial Hemophagocytic Lymphohistiocytosis

article

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

article

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

scientific article published on 29 May 2018

Parents of children with spinal muscular atrophy are not obligate carriers: Carrier testing is important for reproductive decision-making

scientific article published on 01 January 2002

Paternal germline mosaicism for aGPC3deletion in X-linked Simpson-Golabi-Behmel syndrome

scientific article published on 29 July 2014

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

scientific article published on 05 December 2013

Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates.

scientific article published in August 2010

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

scientific article

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

scientific article published on 19 December 2018

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

scientific article

TP53 mutations in high grade serous ovarian cancer and impact on clinical outcomes: a comparison of next generation sequencing and bioinformatics analyses

scientific article published on 18 January 2019

Temporal bone imaging in GJB2 deafness.

scientific article published in December 2006

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

scientific article published on 7 May 2015

The in vivo delivery of heterologous proteins by microencapsulated recombinant cells

scientific article (publication date: February 1999)

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

scientific article

The presence and variant allele fraction of EGFR mutations in ctDNA and development of resistance

scientific article published on 20 March 2019

The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis.

scientific article published in August 2010

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

scientific article published on 08 October 2020

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

scientific article published on 2 July 2015

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

scientific article

X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.

scientific article published in June 2014

List of works by Tracy Stockley

15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

A Canadian guideline on the use of next-generation sequencing in oncology

A Clinical and Molecular Phase II Trial of Oral ENMD-2076 in Ovarian Clear Cell Carcinoma (OCCC): A Study of the Princess Margaret Phase II Consortium

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

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

A recurrentEYA1mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism

AML refractory to primary induction with Ida-FLAG has a poor clinical outcome.

Additional germline findings from a tumor profiling program

Auditory responses in cochlear implant users with and without GJB2 deafness

CCMG practice guideline: laboratory guidelines for next-generation sequencing

CDKN1C mutations and genital anomalies

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

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

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

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

Danon Disease Due to a Novel LAMP2 Microduplication

Data resources for the identification and interpretation of actionable mutations by clinicians.

Distinct patterns of clonal evolution in patients with concurrent myelo- and lymphoproliferative neoplasms

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

Establishment and Characterization of a Human Neuroendocrine Tumor Xenograft

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

Evidence-based best practices for EGFR T790M testing in lung cancer in Canada.

Functional disomy of Xp: prenatal findings and postnatal outcome

Genotype-matched treatment for patients with advanced type I epithelial ovarian cancer (EOC).

Identifying actionable variants using next generation sequencing in patients with a historical diagnosis of undifferentiated pleomorphic sarcoma.

Impact of genomic alterations on outcomes in myelofibrosis patients undergoing JAK1/2 inhibitor therapy

Impact of multi-gene mutational profiling on clinical trial outcomes in metastatic breast cancer.

Impact of preleukemic mutations and their persistence on hematologic recovery after induction chemotherapy for AML

Impact of somatic molecular profiling on clinical trial outcomes in rare epithelial gynecologic cancer patients

Improving validation methods for molecular diagnostics: application of Bland-Altman, Deming and simple linear regression analyses in assay comparison and evaluation for next-generation sequencing.

In Reference toTemporal Bone Imaging inGJB2Deafness

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

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

Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial.

Multiple effects of childhood deafness on cortical activity in children receiving bilateral cochlear implants simultaneously.

Novel Mutation of the Perforin Gene and Maternal Uniparental Disomy 10 in a Patient With Familial Hemophagocytic Lymphohistiocytosis

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

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

Parents of children with spinal muscular atrophy are not obligate carriers: Carrier testing is important for reproductive decision-making

Paternal germline mosaicism for aGPC3deletion in X-linked Simpson-Golabi-Behmel syndrome

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

Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates.

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

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

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

TP53 mutations in high grade serous ovarian cancer and impact on clinical outcomes: a comparison of next generation sequencing and bioinformatics analyses

Temporal bone imaging in GJB2 deafness.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

The in vivo delivery of heterologous proteins by microencapsulated recombinant cells

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

The presence and variant allele fraction of EGFR mutations in ctDNA and development of resistance

The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis.

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

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

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.