Concepedia

Phillip J Whiley

PJ

13

Publications

669

Citations

13

H-Index

2010

Active since

Affiliations

QIMR Berghofer Medical Research Institute(Current)

The University of Queensland

University of Utah

Institut Curie

Huntsman Cancer Institute

Phillip J Whiley is an author at QIMR Berghofer Medical Research Institute specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

2010–2018

13

Publications

13

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Amanda B. Spurdle, Phillip J Whiley, Bryony A. Thompson et al. · Journal of Medical Genetics · 2012 · 116 citations · Full text

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

Mara Colombo, Marinus J. Blok, Phillip J Whiley et al. · Human Molecular Genetics · 2014 · 87 citations · Full text

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Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing

Phillip J Whiley, Miguel de la Hoya, Mads Thomassen et al. · Clinical Chemistry · 2013 · 69 citations · Full text

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

Mads Thomassen, Ana Blanco, Marco Montagna et al. · Breast Cancer Research and Treatment · 2011 · 64 citations · Full text

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

Logan C. Walker, Phillip J Whiley, Fergus J. Couch et al. · Human Mutation · 2010 · 59 citations · Full text

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