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Vanessa C. Fernandes et al.
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Michael T. Parsons et al.
HUMAN MUTATION (2019)
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Volha A. Golubeva et al.
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Ruth M. Densham et al.
FRONTIERS IN MOLECULAR BIOSCIENCES (2019)
BRCA1 gene: function and deficiency
Miho Takaoka et al.
INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY (2018)
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Nadine M. Tung et al.
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A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function
Lea M. Starita et al.
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Accurate classification of BRCA1 variants with saturation genome editing
Gregory M. Findlay et al.
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BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
Melissa S. Cline et al.
PLOS GENETICS (2018)
Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance
Jonas Langerud et al.
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Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
Karoline B. Kuchenbaecker et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2017)
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Amanda Ewart Toland et al.
JOURNAL OF MEDICAL GENETICS (2017)
Enhancer scanning to locate regulatory regions in genomic loci
Melissa Buckley et al.
NATURE PROTOCOLS (2016)
Finding all BRCA pathogenic mutation carriers: best practice models
Nicoline Hoogerbrugge et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Three-Dimensional Architecture of the Human BRCA1-A Histone Deubiquitinase Core Complex
Otto J. P. Kyrieleis et al.
CELL REPORTS (2016)
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance
Nicholas T. Woods et al.
NPJ GENOMIC MEDICINE (2016)
BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance
D. M. Eccles et al.
ANNALS OF ONCOLOGY (2015)
BRCA1 Recruitment to Transcriptional Pause Sites Is Required for R-Loop-Driven DNA Damage Repair
Elodie Hatchi et al.
MOLECULAR CELL (2015)
Genome-wide analysis reveals a role for BRCA1 and PALB2 in transcriptional co-activation
Alessandro Gardini et al.
EMBO JOURNAL (2014)
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium
Mara Colombo et al.
HUMAN MOLECULAR GENETICS (2014)
A High-Throughput Functional Complementation Assay for Classification of BRCA1 Missense Variants
Peter Bouwman et al.
CANCER DISCOVERY (2013)
A guide for functional analysis of BRCA1 variants of uncertain significance
Gael A. Millot et al.
HUMAN MUTATION (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
Impact of BRCA1 BRCT Domain Missense Substitutions on Phosphopeptide Recognition
Nicolas Coquelle et al.
BIOCHEMISTRY (2011)
Comprehensive Analysis of Missense Variations in the BRCT Domain of BRCA1 by Structural and Functional Assays
Megan S. Lee et al.
CANCER RESEARCH (2010)
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
Marcelo Carvalho et al.
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS (2009)
Genetic Evidence and Integration of Various Data Sources for Classifying Uncertain Variants Into a Single Model
David E. Goldgar et al.
HUMAN MUTATION (2008)
Sequence Variant Classification and Reporting: Recommendations for Improving the Interpretation of Cancer Susceptibility Genetic Test Results
Sharon E. Plon et al.
HUMAN MUTATION (2008)
Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis
Marcelo A. Carvalho et al.
CANCER RESEARCH (2007)
Classification of BRCA1 missense variants of unknown clinical significance
CM Phelan et al.
JOURNAL OF MEDICAL GENETICS (2005)
Novel consensus DNA-binding sequence for BRCA1 protein complexes
PL Cable et al.
MOLECULAR CARCINOGENESIS (2003)
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation
RS Williams et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families
J Vallon-Christersson et al.
HUMAN MOLECULAR GENETICS (2001)
BRCA1 can stimulate gene transcription by a unique mechanism
G Nadeau et al.
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