Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

341 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
Leman R, Tubeuf H, Raad S, Tournier I, Derambure C, Lanos R, Gaildrat P, Castelain G, Hauchard J, Killian A, Baert-Desurmont S, Legros A, Goardon N, Quesnelle C, Ricou A, Castera L, Vaur D, Le Gac G, Ka C, Fichou Y, Bonnet-Dorion F, Sevenet N, Guillaud-Bataille M, Boutry-Kryza N, Schultz I, Caux-Moncoutier V, Rossing M, Walker LC, Spurdle AB, Houdayer C, Martins A, Krieger S. Leman R, et al. Among authors: walker lc. BMC Genomics. 2020 Jan 28;21(1):86. doi: 10.1186/s12864-020-6484-5. BMC Genomics. 2020. PMID: 31992191 Free PMC article.
BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.
Waddell N, Ten Haaf A, Marsh A, Johnson J, Walker LC; kConfab Investigators; Gongora M, Brown M, Grover P, Girolami M, Grimmond S, Chenevix-Trench G, Spurdle AB. Waddell N, et al. Among authors: walker lc. PLoS Genet. 2008 May 23;4(5):e1000080. doi: 10.1371/journal.pgen.1000080. PLoS Genet. 2008. PMID: 18497862 Free PMC article.
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Walker LC, Whiley PJ, Couch FJ, Farrugia DJ, Healey S, Eccles DM, Lin F, Butler SA, Goff SA, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators; Tavtigian SV, Goldgar DE, Brown MA, Spurdle AB. Walker LC, et al. Hum Mutat. 2010 Jun;31(6):E1484-505. doi: 10.1002/humu.21267. Hum Mutat. 2010. PMID: 20513136 Free PMC article.
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators; Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB. Whiley PJ, et al. Among authors: walker lc. Hum Mutat. 2011 Jun;32(6):678-87. doi: 10.1002/humu.21495. Epub 2011 Apr 12. Hum Mutat. 2011. PMID: 21394826 Free PMC article.
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA. Spurdle AB, et al. Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990146 Free PMC article.
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
Walker LC, Whiley PJ, Houdayer C, Hansen TV, Vega A, Santamarina M, Blanco A, Fachal L, Southey MC, Lafferty A, Colombo M, De Vecchi G, Radice P, Spurdle AB; ENIGMA consortium. Walker LC, et al. Hum Mutat. 2013 Oct;34(10):1424-31. doi: 10.1002/humu.22388. Epub 2013 Aug 13. Hum Mutat. 2013. PMID: 23893897
341 results