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Lista de obras de Vanessa Lau

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

artículo científico publicado en 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

Genetic variation and mRNA splicing in familial breast cancer genes ⬇️

2017 doctoral thesis by Vanessa Lattimore at University of Otago

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

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

artículo científico

Quantifying and mRNA Isoform Expression Levels in Single Cells

scholarly article

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

article

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

artículo científico publicado en 2020

Unidirectional introgression within the genus Dolomedes (Araneae : Pisauridae) in southern New Zealand

artículo científico publicado en 2011

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