Lista de obras - Tracy Stockley - Dominio Público Uruguay

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Additional germline findings from a tumor profiling program

artículo científico publicado en 2018

Auditory responses in cochlear implant users with and without GJB2 deafness

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Consensus Recommendations to Optimize Testing for New Targetable Alterations in Non-Small Cell Lung Cancer

artículo científico publicado en 2022

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2018

Functional disomy of Xp: prenatal findings and postnatal outcome

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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.

artículo científico publicado en 2006

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

artículo científico publicado en 2015

The in vivo delivery of heterologous proteins by microencapsulated recombinant cells

artículo científico publicado en 1999

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

artículo científico publicado en 2006

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

artículo científico publicado en 2019

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Lista de obras de 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

Consensus Recommendations to Optimize Testing for New Targetable Alterations in Non-Small Cell Lung Cancer

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.