A citation-based method for searching scientific literature

David J Sanz, Alberto Acedo, Mar Infante, Mercedes Durán, Lucía Pérez-Cabornero, Eva Esteban-Cardeñosa, Enrique Lastra, Franco Pagani, Cristina Miner, Eladio A Velasco. Clin Cancer Res 2010
Times Cited: 74



Amanda B Spurdle, Fergus J Couch, Frans B L Hogervorst, Paolo Radice, Olga M Sinilnikova. Hum Mutat 2008
Times Cited: 90




List of shared articles



Times cited

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Mads Thomassen, Ana Blanco, Marco Montagna, Thomas V O Hansen, Inge S Pedersen, Sara Gutiérrez-Enríquez, Mireia Menéndez, Laura Fachal, Marta Santamariña, Ane Y Steffensen,[...]. Breast Cancer Res Treat 2012
47

Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.
Gorka Ruiz de Garibay, Alberto Acedo, Zaida García-Casado, Sara Gutiérrez-Enríquez, Alicia Tosar, Atocha Romero, Pilar Garre, Gemma Llort, Mads Thomassen, Orland Díez,[...]. Hum Mutat 2014
16

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, Alexandra Becker, Rita Brandão, Inge Sokilde Pedersen, Marco Montagna, Mireia Menéndez, Francisco Quiles, Sara Gutiérrez-Enríquez,[...]. Clin Chem 2014
48

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic.
Lise B Ahlborn, Mette Dandanell, Ane Y Steffensen, Lars Jønson, Finn C Nielsen, Thomas V O Hansen. Breast Cancer Res Treat 2015
17

Functional characterization of BRCA1 gene variants by mini-gene splicing assay.
Ane Y Steffensen, Mette Dandanell, Lars Jønson, Bent Ejlertsen, Anne-Marie Gerdes, Finn C Nielsen, Thomas vO Hansen. Eur J Hum Genet 2014
41


Benchmarking of Amplicon-Based Next-Generation Sequencing Panels Combined with Bioinformatics Solutions for Germline BRCA1 and BRCA2 Alteration Detection.
Julie A Vendrell, Paul Vilquin, Marion Larrieux, Charles Van Goethem, Jérôme Solassol. J Mol Diagn 2018
5

Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.
Alberto Acedo, Cristina Hernández-Moro, Álvaro Curiel-García, Beatriz Díez-Gómez, Eladio A Velasco. Hum Mutat 2015
29

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
Heleen M van der Klift, Anne M L Jansen, Niki van der Steenstraten, Elsa C Bik, Carli M J Tops, Peter Devilee, Juul T Wijnen. Mol Genet Genomic Med 2015
36

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
James D Fackenthal, Toshio Yoshimatsu, Bifeng Zhang, Gorka R de Garibay, Mara Colombo, Giovanna De Vecchi, Samantha C Ayoub, Kumar Lal, Olufunmilayo I Olopade, Ana Vega,[...]. J Med Genet 2016
34

Unclassified variants in BRCA genes: guidelines for interpretation.
P Radice, S De Summa, L Caleca, S Tommasi. Ann Oncol 2011
41

Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
Mara Colombo, Giovanna De Vecchi, Laura Caleca, Claudia Foglia, Carla B Ripamonti, Filomena Ficarazzi, Monica Barile, Liliana Varesco, Bernard Peissel, Siranoush Manoukian,[...]. PLoS One 2013
39

Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.
Daniela Di Giacomo, Pascaline Gaildrat, Anna Abuli, Julie Abdat, Thierry Frébourg, Mario Tosi, Alexandra Martins. Hum Mutat 2013
37

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.
Logan C Walker, Phillip J Whiley, Claude Houdayer, Thomas V O Hansen, Ana Vega, Marta Santamarina, Ana Blanco, Laura Fachal, Melissa C Southey, Alan Lafferty,[...]. Hum Mutat 2013
29

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
Pascaline Gaildrat, Sophie Krieger, Daniela Di Giacomo, Julie Abdat, Françoise Révillion, Sandrine Caputo, Dominique Vaur, Estelle Jamard, Elodie Bohers, Danielle Ledemeney,[...]. J Med Genet 2012
40