Related references
Note: Only part of the references are listed.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.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
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)
Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines
Rajarshi Ghosh et al.
GENOME BIOLOGY (2017)
Variant Interpretation: Functional Assays to the Rescue
Lea M. Starita et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
ClinVar: public archive of interpretations of clinically relevant variants
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2016)
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
Miguel de la Hoya et al.
HUMAN MOLECULAR GENETICS (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
Optimized sgRNA design to maximize activity and minimize off-target effects of CRISPR-Cas9
John G. Doench et al.
NATURE BIOTECHNOLOGY (2016)
The power of multiplexed functional analysis of genetic variants
Molly Gasperini et al.
NATURE PROTOCOLS (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 Alternative splicing landscape in breast tissue samples
Atocha Romero et al.
BMC CANCER (2015)
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
Lea M. Starita et al.
GENETICS (2015)
ClinGen - The Clinical Genome Resource
Heidi L. Rehm et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
Douglas F. Easton et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Gene essentiality and synthetic lethality in haploid human cells
Vincent A. Blomen et al.
SCIENCE (2015)
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants
Lea M. Starita et al.
GENETICS (2015)
Functional characterization of BRCA1 gene variants by mini-gene splicing assay
Ane Y. Steffensen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Megabase-scale deletion using CRISPR/Cas9 to generate a fully haploid human cell line
Patrick Essletzbichler et al.
GENOME RESEARCH (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)
Saturation editing of genomic regions by multiplex homology-directed repair
Gregory M. Findlay et al.
NATURE (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Analysis of BRCA1 Variants in Double-Strand Break Repair by Homologous Recombination and Single-Strand Annealing
William I. Towler et al.
HUMAN MUTATION (2013)
DNA targeting specificity of RNA-guided Cas9 nucleases
Patrick D. Hsu et al.
NATURE BIOTECHNOLOGY (2013)
The transience of transient overexpression
Toby J. Gibson et al.
NATURE METHODS (2013)
Genome engineering using the CRISPR-Cas9 system
F. Ann Ran et al.
NATURE PROTOCOLS (2013)
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)
BRCA1 RING Function Is Essential for Tumor Suppression but Dispensable for Therapy Resistance
Rinske Drost et al.
CANCER CELL (2011)
Ebola virus entry requires the cholesterol transporter Niemann-Pick C1
Jan E. Carette et al.
NATURE (2011)
BRCA1 Tumor Suppression Depends on BRCT Phosphoprotein Binding, But Not Its E3 Ligase Activity
Reena Shakya et al.
SCIENCE (2011)
Identification of Breast Tumor Mutations in BRCA1 That Abolish Its Function in Homologous DNA Recombination
Derek J. R. Ransburgh et al.
CANCER RESEARCH (2010)
Detection of nonneutral substitution rates on mammalian phylogenies
Katherine S. Pollard et al.
GENOME RESEARCH (2010)
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
Tom Walsh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Bioinformatic analyses of mammalian 5'-UTR sequence properties of mRNAs predicts alternative translation initiation sites
Jill L. Wegrzyn et al.
BMC BIOINFORMATICS (2008)
Classification of Rare Missense Substitutions, Using Risk Surfaces, With Genetic- and Molecular-Epidemiology Applications
Sean V. Tavtigian 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)
Efficient gene targeting in Drosophila by direct embryo injection with zinc-finger nucleases
Kelly J. Beumer et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Paul K. Lovelock et al.
BREAST CANCER RESEARCH (2007)
Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral
SV Tavtigian et al.
JOURNAL OF MEDICAL GENETICS (2006)
Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers:: The PROSE study group
TR Rebbeck et al.
JOURNAL OF CLINICAL ONCOLOGY (2004)
Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: Implications for signaling
EN Shiozaki et al.
MOLECULAR CELL (2004)
Ku DNA end-binding protein modulates homologous repair of double-strand breaks in mammalian cells
AJ Pierce et al.
GENES & DEVELOPMENT (2001)
Structure of a BRCA1-BARD1 heterodimeric RING-RING complex
PS Brzovic et al.
NATURE STRUCTURAL BIOLOGY (2001)