-
1
-
-
0035451780
-
On the allelic spectrum of human disease
-
Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Trends Genet. 17, 502-510 (2001).
-
(2001)
Trends Genet
, vol.17
, pp. 502-510
-
-
Reich, D.E.1
Lander, E.S.2
-
2
-
-
84899476119
-
Guidelines for investigating causality of sequence variants in human disease
-
MacArthur, D. G. et al. Guidelines for investigating causality of sequence variants in human disease. Nature 508, 469-476 (2014).
-
(2014)
Nature
, vol.508
, pp. 469-476
-
-
MacArthur, D.G.1
-
3
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology
-
Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405-424 (2015).
-
(2015)
Genet. Med
, vol.17
, pp. 405-424
-
-
Richards, S.1
-
4
-
-
0028113345
-
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
-
Miki, Y. et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266, 66-71 (1994).
-
(1994)
Science
, vol.266
, pp. 66-71
-
-
Miki, Y.1
-
5
-
-
84867485246
-
A guide for functional analysis of BRCA1 variants of uncertain significance
-
Millot, G. A. et al. A guide for functional analysis of BRCA1 variants of uncertain significance. Hum. Mutat. 33, 1526-1537 (2012).
-
(2012)
Hum. Mutat
, vol.33
, pp. 1526-1537
-
-
Millot, G.A.1
-
6
-
-
79958076372
-
Computational method to classify variants of uncertain significance using functional assay data with application to BRCA1
-
Iversen, E. S., Couch, F. J., Goldgar, D. E., Tavtigian, S. V. & Monteiro, A. N. A. Computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. Cancer Epidemiol. Biomarkers Prev. 20, 1078-1088 (2011).
-
(2011)
Cancer Epidemiol. Biomarkers Prev
, vol.20
, pp. 1078-1088
-
-
Iversen, E.S.1
Couch, F.J.2
Goldgar, D.E.3
Tavtigian, S.V.4
Monteiro, A.N.A.5
-
7
-
-
57149107984
-
Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins
-
Yandell, M. et al. Genome-wide analysis of human disease alleles reveals that their locations are correlated in paralogous proteins. PLoS Comput. Biol. 4, e1000218 (2008).
-
(2008)
PLoS Comput. Biol
, vol.4
, pp. e1000218
-
-
Yandell, M.1
-
8
-
-
33847314487
-
Determination of cancer risk Associated with germ line BRCA1 missense variants by functional analysis
-
Carvalho, M. A. et al. Determination of cancer risk Associated with germ line BRCA1 missense variants by functional analysis. Cancer Res. 67, 1494-1501 (2007).
-
(2007)
Cancer Res
, vol.67
, pp. 1494-1501
-
-
Carvalho, M.A.1
-
9
-
-
13444292150
-
Classification of BRCA1 missense variants of unknown clinical significance
-
Phelan, C. M. et al. Classification of BRCA1 missense variants of unknown clinical significance. J. Med. Genet. 42, 138-146 (2005).
-
(2005)
J. Med. Genet
, vol.42
, pp. 138-146
-
-
Phelan, C.M.1
-
10
-
-
84857685576
-
Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs
-
Vallee, M. P. et al. Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs. Hum. Mutat. 33, 22-28 (2012).
-
(2012)
Hum. Mutat
, vol.33
, pp. 22-28
-
-
Vallee, M.P.1
-
11
-
-
84857688644
-
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
-
Lindor, N. M. et al. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). Hum. Mutat. 33, 8-21 (2012).
-
(2012)
Hum. Mutat
, vol.33
, pp. 8-21
-
-
Lindor, N.M.1
-
12
-
-
55549101314
-
Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results
-
Plon, S. E. et al. Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum. Mutat. 29, 1282-1291 (2008).
-
(2008)
Hum. Mutat
, vol.29
, pp. 1282-1291
-
-
Plon, S.E.1
-
13
-
-
84901302217
-
Probing structure-function relationships in missense variants in the carboxy-Terminal region of BRCA1
-
Carvalho, R. S. et al. Probing structure-function relationships in missense variants in the carboxy-Terminal region of BRCA1. PloS ONE 9, e97766 (2014).
-
(2014)
PloS ONE
, vol.9
, pp. e97766
-
-
Carvalho, R.S.1
-
14
-
-
4544336084
-
Integrated evaluation of DNA sequence variants of unknown clinical significance: Application to BRCA1 and BRCA2
-
Goldgar, D. E. et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: Application to BRCA1 and BRCA2. Am. J. Hum. Genet. 75, 535-544 (2004).
-
(2004)
Am. J. Hum. Genet
, vol.75
, pp. 535-544
-
-
Goldgar, D.E.1
-
15
-
-
35348834779
-
A systematic genetic assessment of 1, 433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancerpredisposition genes
-
Easton, D. F. et al. A systematic genetic assessment of 1, 433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancerpredisposition genes. Am. J. Hum. Genet. 81, 873-883 (2007).
-
(2007)
Am. J. Hum. Genet
, vol.81
, pp. 873-883
-
-
Easton, D.F.1
-
16
-
-
55549137442
-
Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
-
Goldgar, D. E. et al. Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum. Mutat. 29, 1265-1272 (2008).
-
(2008)
Hum. Mutat
, vol.29
, pp. 1265-1272
-
-
Goldgar, D.E.1
-
17
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng, P. C. & Henikoff, S. Predicting deleterious amino acid substitutions. Genome Res. 11, 863-874 (2001).
-
(2001)
Genome Res
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
18
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I. A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010).
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
-
19
-
-
84895858942
-
A general framework for estimating the relative pathogenicity of human genetic variants
-
Kircher, M. et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet. 46, 310-315 (2014).
-
(2014)
Nat. Genet
, vol.46
, pp. 310-315
-
-
Kircher, M.1
-
20
-
-
84897456458
-
MutationTaster2: Mutation prediction for the deep-sequencing age
-
Schwarz, J. M., Cooper, D. N., Schuelke, M. & Seelow, D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat. Methods 11, 361-362 (2014).
-
(2014)
Nat. Methods
, vol.11
, pp. 361-362
-
-
Schwarz, J.M.1
Cooper, D.N.2
Schuelke, M.3
Seelow, D.4
-
21
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-Throughput sequencing data
-
Wang, K., Li, M. & Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-Throughput sequencing data. Nucleic Acids Res. 38, e164 (2010).
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
22
-
-
84905842087
-
Breast-cancer risk in families with mutations in PALB2
-
Antoniou, A. C. et al. Breast-cancer risk in families with mutations in PALB2. N. Engl. J. Med. 371, 497-506 (2014).
-
(2014)
N. Engl. J. Med
, vol.371
, pp. 497-506
-
-
Antoniou, A.C.1
-
23
-
-
0026356891
-
Predicting coiled coils from protein sequences
-
Lupas, A., Van Dyke, M. & Stock, J. Predicting coiled coils from protein sequences. Science 252, 1162-1164 (1991).
-
(1991)
Science
, vol.252
, pp. 1162-1164
-
-
Lupas, A.1
Van Dyke, M.2
Stock, J.3
-
24
-
-
66349096607
-
PALB2 is an integral component of the BRCA complex required for homologous recombination repair
-
Sy, S. M., Huen, M. S. & Chen, J. PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc. Natl Acad. Sci. USA 106, 7155-7160 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 7155-7160
-
-
Sy, S.M.1
Huen, M.S.2
Chen, J.3
-
25
-
-
84866525932
-
Charting the landscape of tandem BRCT domain-mediated protein interactions
-
Woods, N. T. et al. Charting the landscape of tandem BRCT domain-mediated protein interactions. Sci. Signal. 5, rs6 (2012).
-
(2012)
Sci. Signal
, vol.5
, pp. rs6
-
-
Woods, N.T.1
-
26
-
-
68249125947
-
B. 14-3-3 proteins, FHA domains and BRCT domains in the DNA damage response
-
Mohammad, D. H. & Yaffe, M. B. 14-3-3 proteins, FHA domains and BRCT domains in the DNA damage response. DNA Repair (Amst) 8, 1009-1017 (2009).
-
(2009)
DNA Repair (Amst)
, vol.8
, pp. 1009-1017
-
-
Mohammad, D.H.1
Yaffe, M.2
-
27
-
-
45849117573
-
Activation of the cellular DNA damage response in the absence of DNA lesions
-
Soutoglou, E. & Misteli, T. Activation of the cellular DNA damage response in the absence of DNA lesions. Science 320, 1507-1510 (2008).
-
(2008)
Science
, vol.320
, pp. 1507-1510
-
-
Soutoglou, E.1
Misteli, T.2
-
28
-
-
55549147204
-
Classification of rare missense substitutions, using risk surfaces, with genetic-And molecularepidemiology applications
-
Tavtigian, S. V., Byrnes, G. B., Goldgar, D. E. & Thomas, A. Classification of rare missense substitutions, using risk surfaces, with genetic-And molecularepidemiology applications. Hum. Mutat. 29, 1342-1354 (2008).
-
(2008)
Hum. Mutat
, vol.29
, pp. 1342-1354
-
-
Tavtigian, S.V.1
Byrnes, G.B.2
Goldgar, D.E.3
Thomas, A.4
-
29
-
-
79954986866
-
A new face and new challenges for online mendelian inheritance in man (OMIM(R)
-
Amberger, J., Bocchini, C. & Hamosh, A. A new face and new challenges for Online Mendelian Inheritance in Man (OMIM(R). Hum. Mutat. 32, 564-567 (2011).
-
(2011)
Hum. Mutat
, vol.32
, pp. 564-567
-
-
Amberger, J.1
Bocchini, C.2
Hamosh, A.3
-
30
-
-
67249117049
-
Potential etiologic and functional implications of genomewide association loci for human diseases and traits
-
Hindorff, L. A. et al. Potential etiologic and functional implications of genomewide association loci for human diseases and traits. Proc. Natl Acad. Sci. USA 106, 9362-9367 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 9362-9367
-
-
Hindorff, L.A.1
-
31
-
-
79952610870
-
Making sense of cancer genomic data
-
Chin, L., Hahn, W. C., Getz, G. & Meyerson, M. Making sense of cancer genomic data. Genes Dev. 25, 534-555 (2011).
-
(2011)
Genes Dev
, vol.25
, pp. 534-555
-
-
Chin, L.1
Hahn, W.C.2
Getz, G.3
Meyerson, M.4
-
32
-
-
84906860667
-
Male fertility defect associated with disrupted BRCA1-PALB2 interaction in mice
-
Simhadri, S. et al. Male fertility defect associated with disrupted BRCA1-PALB2 interaction in mice. J. Biol. Chem. 289, 24617-24629 (2014).
-
(2014)
J. Biol. Chem
, vol.289
, pp. 24617-24629
-
-
Simhadri, S.1
-
33
-
-
77953796463
-
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays
-
Lee, M. S. et al. Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. Cancer Res. 70, 4880-4890 (2010).
-
(2010)
Cancer Res
, vol.70
, pp. 4880-4890
-
-
Lee, M.S.1
-
34
-
-
84885593414
-
A high-Throughput functional complementation assay for classification of BRCA1 missense variants
-
Bouwman, P. et al. A high-Throughput functional complementation assay for classification of BRCA1 missense variants. Cancer Discov. 3, 1142-1155 (2013).
-
(2013)
Cancer Discov
, vol.3
, pp. 1142-1155
-
-
Bouwman, P.1
-
35
-
-
84876424557
-
Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer
-
Domchek, S. M. et al. Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer. Cancer Discov. 3, 399-405 (2013).
-
(2013)
Cancer Discov
, vol.3
, pp. 399-405
-
-
Domchek, S.M.1
-
36
-
-
0037816165
-
Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis
-
Kato, S. et al. Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. Proc. Natl Acad. Sci. USA 100, 8424-8429 (2003).
-
(2003)
Proc. Natl Acad. Sci. USA
, vol.100
, pp. 8424-8429
-
-
Kato, S.1
-
37
-
-
84930651791
-
BRCA1 Circos: A visualisation resource for functional analysis of missense variants
-
Jhuraney, A. et al. BRCA1 Circos: A visualisation resource for functional analysis of missense variants. J. Med. Genet. 52, 224-230 (2015).
-
(2015)
J. Med. Genet
, vol.52
, pp. 224-230
-
-
Jhuraney, A.1
-
38
-
-
0032526172
-
Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiae
-
Polaczek, P., Putzke, A. P., Leong, K. & Bitter, G. A. Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiae. Gene 213, 159-167 (1998).
-
(1998)
Gene
, vol.213
, pp. 159-167
-
-
Polaczek, P.1
Putzke, A.P.2
Leong, K.3
Bitter, G.A.4
-
39
-
-
84896526547
-
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair
-
Wielders, E. A. et al. Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair. J. Med. Genet. 51, 245-253 (2014).
-
(2014)
J. Med. Genet
, vol.51
, pp. 245-253
-
-
Wielders, E.A.1
-
40
-
-
0035891829
-
A functional assay for mutations in tumor suppressor genes caused by mismatch repair deficiency
-
Ji, H. P. & King, M. C. A functional assay for mutations in tumor suppressor genes caused by mismatch repair deficiency. Hum. Mol. Genet. 10, 2737-2743 (2001).
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 2737-2743
-
-
Ji, H.P.1
King, M.C.2
-
41
-
-
3142699826
-
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation
-
Abkevich, V. et al. Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J. Med. Genet. 41, 492-507 (2004).
-
(2004)
J. Med. Genet
, vol.41
, pp. 492-507
-
-
Abkevich, V.1
-
42
-
-
29244434544
-
MDC1 directly binds phosphorylated histone H2AX to regulate cellular responses to DNA double-strand breaks
-
Stucki, M. et al. MDC1 directly binds phosphorylated histone H2AX to regulate cellular responses to DNA double-strand breaks. Cell 123, 1213-1226 (2005).
-
(2005)
Cell
, vol.123
, pp. 1213-1226
-
-
Stucki, M.1
-
43
-
-
84865975058
-
Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1
-
Singh, N. et al. Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1. Proc. Natl Acad. Sci. USA 109, 14381-14386 (2012).
-
(2012)
Proc. Natl Acad. Sci. USA
, vol.109
, pp. 14381-14386
-
-
Singh, N.1
-
44
-
-
58249090764
-
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
-
Carvalho, M. A. et al. Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. Mutat Res. 660, 1-11 (2009).
-
(2009)
Mutat Res
, vol.660
, pp. 1-11
-
-
Carvalho, M.A.1
|