Lista de obras - Logan C. Walker - Dominio Público Uruguay

A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia

artículo científico publicado en 2002

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

artículo científico publicado en 2019

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

scientific article published on 28 January 2020

Assessment of intra-tumoural colorectal cancer prognostic biomarkers using RNA hybridisation

Association of chromosome band 8q22 copy number gain with high grade invasive breast carcinomas by assessment of core needle biopsies

scientific article published on 1 May 2008

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression

artículo científico publicado en 2008

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

artículo científico publicado en 2017

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Clinical implications of the genetics of sporadic colorectal cancer

scientific article published on 28 March 2019

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

artículo científico publicado en 2014

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

artículo científico publicado en 2019

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

artículo científico publicado en 2014

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

artículo científico publicado en 2019

Cytokeratin KRT8/18 expression differentiates distinct subtypes of grade 3 invasive ductal carcinoma of the breast

artículo científico publicado en 2007

Cytomegalovirus and Epstein-Barr virus in breast cancer

artículo científico publicado en 2015

Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline: Segmentation of z-scores improves detection and reliability

scientific article published on 05 October 2020

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

artículo científico publicado en 2010

Dual-color fluorescence in situ hybridization reveals an association of chromosome 8q22 but not 8p21 imbalance with high grade invasive breast carcinoma

artículo científico publicado en 2013

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

artículo científico publicado en 2010

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

artículo científico publicado en 2013

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on February 2017

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

artículo científico publicado en 2010

Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia

artículo científico publicado en 2004

Genome-Wide Gene Expression Analyses of BRCA1- and BRCA2-Associated Breast and Ovarian Tumours

artículo científico publicado en 2020

Genome-wide association study identifies a common variant associated with risk of endometrial cancer

artículo científico publicado en 2011

Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours

artículo científico publicado en 2012

Impact of COVID-19 on health research in New Zealand: a case study of a research-intensive campus

Increased gene expression variability in BRCA1-associated and basal-like breast tumours

artículo científico publicado en 2021

Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry

scientific article published on 16 March 2017

Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.

artículo científico publicado en 2018

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

Meeting the challenges of interpreting variants of unknown clinical significance in BRCA testing.

artículo científico publicado en 2015

Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

artículo científico publicado en 2017

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

artículo científico publicado en 2016

Phosphohistone H3 outperforms Ki67 as a marker of outcome for breast cancer patients.

artículo científico publicado en 2015

Prioritizing candidate genetic modifiers of BRCA1 and BRCA2 using a combinatorial analysis of global expression and polymorphism association studies of breast cancer

artículo científico publicado en 2010

Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells ⬇️

artículo científico

Quantifying and mRNA Isoform Expression Levels in Single Cells

scholarly article

Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition

artículo científico publicado en 2014

Rare germline copy number variants (CNVs) and breast cancer risk

artículo científico publicado en 2022

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

artículo científico publicado en 2011

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

article

The Impact on Life questionnaire: validation for elective surgery prioritisation in New Zealand prioritisation criteria in orthopaedic surgery

artículo científico publicado en 2016

The Role of Constitutional Copy Number Variants in Breast Cancer

artículo científico publicado en 2015

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

artículo científico publicado en 2019

Translating colorectal cancer genetics into clinically useful biomarkers

artículo científico publicado en 2016

Translocation (2;14) associated with complex rearrangements of the Ig heavy chain in non-Hodgkin lymphoma

artículo científico publicado en 2001

Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients

artículo científico publicado en 2020

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

artículo científico publicado en 2010

Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers

artículo científico publicado en 2008

Variable expression quantitative trait loci analysis of breast cancer risk variants

artículo científico publicado en 2021

Lista de obras de Logan C. Walker

A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia

Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report

Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants

Assessment of intra-tumoural colorectal cancer prognostic biomarkers using RNA hybridisation

Association of chromosome band 8q22 copy number gain with high grade invasive breast carcinomas by assessment of core needle biopsies

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Clinical implications of the genetics of sporadic colorectal cancer

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

Comprehensive Assessment of BARD1 Messenger Ribonucleic Acid Splicing With Implications for Variant Classification

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

Cytokeratin KRT8/18 expression differentiates distinct subtypes of grade 3 invasive ductal carcinoma of the breast

Cytomegalovirus and Epstein-Barr virus in breast cancer

Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline: Segmentation of z-scores improves detection and reliability

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

Dual-color fluorescence in situ hybridization reveals an association of chromosome 8q22 but not 8p21 imbalance with high grade invasive breast carcinoma

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts

Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia

Genome-Wide Gene Expression Analyses of BRCA1- and BRCA2-Associated Breast and Ovarian Tumours

Genome-wide association study identifies a common variant associated with risk of endometrial cancer

Germline copy number variants are not associated with globally acquired copy number changes in familial breast tumours

Impact of COVID-19 on health research in New Zealand: a case study of a research-intensive campus

Increased gene expression variability in BRCA1-associated and basal-like breast tumours

Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry

Investigation of Experimental Factors That Underlie BRCA1/2 mRNA Isoform Expression Variation: Recommendations for Utilizing Targeted RNA Sequencing to Evaluate Potential Spliceogenic Variants.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Meeting the challenges of interpreting variants of unknown clinical significance in BRCA testing.

Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

Phosphohistone H3 outperforms Ki67 as a marker of outcome for breast cancer patients.

Prioritizing candidate genetic modifiers of BRCA1 and BRCA2 using a combinatorial analysis of global expression and polymorphism association studies of breast cancer

Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells ⬇️

Quantifying and mRNA Isoform Expression Levels in Single Cells

Rare germline copy number deletions of likely functional importance are implicated in endometrial cancer predisposition

Rare germline copy number variants (CNVs) and breast cancer risk

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes

The Impact on Life questionnaire: validation for elective surgery prioritisation in New Zealand prioritisation criteria in orthopaedic surgery

The Role of Constitutional Copy Number Variants in Breast Cancer

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

Translating colorectal cancer genetics into clinically useful biomarkers

Translocation (2;14) associated with complex rearrangements of the Ig heavy chain in non-Hodgkin lymphoma

Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients

Use of DNA-damaging agents and RNA pooling to assess expression profiles associated with BRCA1 and BRCA2 mutation status in familial breast cancer patients.

Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers

Variable expression quantitative trait loci analysis of breast cancer risk variants