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



Gene Yeo, Christopher B Burge. J Comput Biol 2004
Times Cited: 1084




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

Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing.
Rita Dias Brandão, Kees van Roozendaal, Demis Tserpelis, Encarna Gómez García, Marinus J Blok. Breast Cancer Res Treat 2011
25

Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.
Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Elena Bueno-Martínez, Patricia Llovet, Beatriz Díez-Gómez, María José Caloca, Pedro Pérez-Segura, Eugenia Fraile-Bethencourt, Marta Colmena, Sara Carvalho,[...]. Cancers (Basel) 2020
2

Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, Elisa Goina, Alberto Acedo, Emanuele Buratti, Eladio A Velasco. J Pathol 2019
12

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.
Michela Raponi, Jana Kralovicova, Ellen Copson, Petr Divina, Diana Eccles, Peter Johnson, Diana Baralle, Igor Vorechovsky. Hum Mutat 2011
76


Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac, Chandran Ka, Yann Fichou, Marie-Pierre Audrezet, Virginie Caux-Moncoutier, Sandrine M Caputo, Nadia Boutry-Kryza, Mélanie Léone,[...]. Nucleic Acids Res 2018
31

UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays.
Linda Gailite, Alberto Valenzuela-Palomo, Lara Sanoguera-Miralles, Dmitrijs Rots, Madara Kreile, Eladio A Velasco. Front Genet 2020
2

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
Maxime P Vallée, Tonya L Di Sera, David A Nix, Andrew M Paquette, Michael T Parsons, Russel Bell, Andrea Hoffman, Frans B L Hogervorst, David E Goldgar, Amanda B Spurdle,[...]. Hum Mutat 2016
40

BRCA1 exon 11 a model of long exon splicing regulation.
Michela Raponi, Lindsay D Smith, Marco Silipo, Cristiana Stuani, Emanuele Buratti, Diana Baralle. RNA Biol 2014
15

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Jannah Shamsani, Stephen H Kazakoff, Irina M Armean, Will McLaren, Michael T Parsons, Bryony A Thompson, Tracy A O'Mara, Sarah E Hunt, Nicola Waddell, Amanda B Spurdle. Bioinformatics 2019
12

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.
Elena Bueno-Martínez, Lara Sanoguera-Miralles, Alberto Valenzuela-Palomo, Víctor Lorca, Alicia Gómez-Sanz, Sara Carvalho, Jamie Allen, Mar Infante, Pedro Pérez-Segura, Conxi Lázaro,[...]. Cancers (Basel) 2021
0

Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.
Eliseos J Mucaki, Peter Ainsworth, Peter K Rogan. Hum Mutat 2011
21

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
Elisa Gelli, Mara Colombo, Anna Maria Pinto, Giovanna De Vecchi, Claudia Foglia, Sara Amitrano, Valeria Morbidoni, Valentina Imperatore, Siranoush Manoukian, Margherita Baldassarri,[...]. Cancers (Basel) 2019
12

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

Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
Xavier Gabaldó Barrios, Mª Desamparados Sarabia Meseguer, Miguel Marín Vera, Ana Isabel Sánchez Bermúdez, José Antonio Macías Cerrolaza, Pilar Sánchez Henarejos, Marta Zafra Poves, Mª Rosario García Hernández, Encarna Cuevas Tortosa, Ángeles Aliaga Baño,[...]. Fam Cancer 2017
5

Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco. PLoS Genet 2017
26

Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.
Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, Alberto Acedo, Eladio A Velasco. Front Genet 2018
12