A citation-based method for searching scientific literature

Irene Lopez-Perolio, Raphaël Leman, Raquel Behar, Vanessa Lattimore, John F Pearson, Laurent Castéra, Alexandra Martins, Dominique Vaur, Nicolas Goardon, Grégoire Davy, Pilar Garre, Vanesa García-Barberán, Patricia Llovet, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés, Kathleen S Hruska, Vickie Hsuan, Sitao Wu, Tina Pesaran, Rachid Karam, Johan Vallon-Christersson, Ake Borg, Alberto Valenzuela-Palomo, Eladio A Velasco, Melissa Southey, Maaike P G Vreeswijk, Peter Devilee, Anders Kvist, Amanda B Spurdle, Logan C Walker, Sophie Krieger, Miguel de la Hoya. J Med Genet 2019
Times Cited: 12







List of co-cited articles
99 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


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.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
75

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
15
50

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
36
50


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
35
50

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
230
50

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
167
50

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Sarah E Brnich, Ahmad N Abou Tayoun, Fergus J Couch, Garry R Cutting, Marc S Greenblatt, Christopher D Heinen, Dona M Kanavy, Xi Luo, Shannon M McNulty, Lea M Starita,[...]. Genome Med 2019
137
50

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
14
41

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Gemma Montalban, Eugenia Fraile-Bethencourt, Irene López-Perolio, Pedro Pérez-Segura, Mar Infante, Mercedes Durán, María Concepción Alonso-Cerezo, Adrià López-Fernández, Orland Diez, Miguel de la Hoya,[...]. Hum Mutat 2018
8
50

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
19
33

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Alejandro Moles-Fernández, Laura Duran-Lozano, Gemma Montalban, Sandra Bonache, Irene López-Perolio, Mireia Menéndez, Marta Santamariña, Raquel Behar, Ana Blanco, Estela Carrasco,[...]. Front Genet 2018
40
33


A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
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
81
33

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.
Rick A C M Boonen, Amélie Rodrigue, Chantal Stoepker, Wouter W Wiegant, Bas Vroling, Milan Sharma, Magdalena B Rother, Nandi Celosse, Maaike P G Vreeswijk, Fergus Couch,[...]. Nat Commun 2019
28
33

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.
Sarah Reid, Detlev Schindler, Helmut Hanenberg, Karen Barker, Sandra Hanks, Reinhard Kalb, Kornelia Neveling, Patrick Kelly, Sheila Seal, Marcel Freund,[...]. Nat Genet 2007
442
33

A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.
Amélie Rodrigue, Guillaume Margaillan, Thiago Torres Gomes, Yan Coulombe, Gemma Montalban, Simone da Costa E Silva Carvalho, Larissa Milano, Mandy Ducy, Giuliana De-Gregoriis, Graham Dellaire,[...]. Nucleic Acids Res 2019
26
33

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Claude Houdayer, Virginie Caux-Moncoutier, Sophie Krieger, Michel Barrois, Françoise Bonnet, Violaine Bourdon, Myriam Bronner, Monique Buisson, Florence Coulet, Pascaline Gaildrat,[...]. Hum Mutat 2012
167
33

Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
Leila Dorling, Sara Carvalho, Jamie Allen, Anna González-Neira, Craig Luccarini, Cecilia Wahlström, Karen A Pooley, Michael T Parsons, Cristina Fortuno, Qin Wang,[...]. N Engl J Med 2021
193
33

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.
Beatriz Lara, Maria Teresa Martínez, Ignacio Blanco, Cristina Hernández-Moro, Eladio A Velasco, Ilaria Ferrarotti, Francisco Rodriguez-Frias, Laura Perez, Irene Vazquez, Javier Alonso,[...]. Respir Res 2014
26
25

Improved splice site detection in Genie.
M G Reese, F H Eeckman, D Kulp, D Haussler. J Comput Biol 1997
25

Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.
Alberto Acedo, David J Sanz, Mercedes Durán, Mar Infante, Lucía Pérez-Cabornero, Cristina Miner, Eladio A Velasco. Breast Cancer Res 2012
42
25

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
Y Miki, J Swensen, D Shattuck-Eidens, P A Futreal, K Harshman, S Tavtigian, Q Liu, C Cochran, L M Bennett, W Ding. Science 1994
25

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.
Olatz Villate, Nekane Ibarluzea, Eugenia Fraile-Bethencourt, Alberto Valenzuela, Eladio A Velasco, Detelina Grozeva, F L Raymond, María P Botella, María-Isabel Tejada. Front Genet 2018
12
25

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
François-Olivier Desmet, Dalil Hamroun, Marine Lalande, Gwenaëlle Collod-Béroud, Mireille Claustres, Christophe Béroud. Nucleic Acids Res 2009
25

Detecting splicing patterns in genes involved in hereditary breast and ovarian cancer.
Grégoire Davy, Antoine Rousselin, Nicolas Goardon, Laurent Castéra, Valentin Harter, Angelina Legros, Etienne Muller, Robin Fouillet, Baptiste Brault, Anna S Smirnova,[...]. Eur J Hum Genet 2017
29
25

RNA mis-splicing in disease.
Marina M Scotti, Maurice S Swanson. Nat Rev Genet 2016
551
25

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
52
25

Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15.
Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, María José Caloca, Susana Gómez-Barrero, Eladio A Velasco. Front Genet 2019
14
25

Predicting Splicing from Primary Sequence with Deep Learning.
Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F McRae, Siavash Fazel Darbandi, David Knowles, Yang I Li, Jack A Kosmicki, Juan Arbelaez, Wenwu Cui, Grace B Schwartz,[...]. Cell 2019
495
25

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, Muhtadi M Islam, Tapahsama Banerjee, Aleksandra I Adamovich, Justin Gullingsrud, Stanley Fields, Jay Shendure, Jeffrey D Parvin. Am J Hum Genet 2018
63
25

Accurate classification of BRCA1 variants with saturation genome editing.
Gregory M Findlay, Riza M Daza, Beth Martin, Melissa D Zhang, Anh P Leith, Molly Gasperini, Joseph D Janizek, Xingfan Huang, Lea M Starita, Jay Shendure. Nature 2018
296
25

Breast-cancer risk in families with mutations in PALB2.
Antonis C Antoniou, Silvia Casadei, Tuomas Heikkinen, Daniel Barrowdale, Katri Pylkäs, Jonathan Roberts, Andrew Lee, Deepak Subramanian, Kim De Leeneer, Florentia Fostira,[...]. N Engl J Med 2014
513
25

Functional characterization of 84 PALB2 variants of uncertain significance.
Timothy Wiltshire, Mandy Ducy, Tzeh Keong Foo, Chunling Hu, Kun Y Lee, Anil Belur Nagaraj, Amélie Rodrigue, Thiago T Gomes, Jacques Simard, Alvaro N A Monteiro,[...]. Genet Med 2020
19
25

Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.
Bing Xia, Qing Sheng, Koji Nakanishi, Akihiro Ohashi, Jianmin Wu, Nicole Christ, Xinggang Liu, Maria Jasin, Fergus J Couch, David M Livingston. Mol Cell 2006
570
25

The Tumor Suppressor PALB2: Inside Out.
Mandy Ducy, Laura Sesma-Sanz, Laure Guitton-Sert, Anahita Lashgari, Yuandi Gao, Nadine Brahiti, Amélie Rodrigue, Guillaume Margaillan, Marie-Christine Caron, Jacques Côté,[...]. Trends Biochem Sci 2019
63
25

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
Xin Yang, Goska Leslie, Alicja Doroszuk, Sandra Schneider, Jamie Allen, Brennan Decker, Alison M Dunning, James Redman, James Scarth, Inga Plaskocinska,[...]. J Clin Oncol 2020
136
25

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
Diana Baralle, Anneke Lucassen, Emanuele Buratti. EMBO Rep 2009
90
25


Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Kristy Lee, Kate Krempely, Maegan E Roberts, Michael J Anderson, Fatima Carneiro, Elizabeth Chao, Katherine Dixon, Joana Figueiredo, Rajarshi Ghosh, David Huntsman,[...]. Hum Mutat 2018
73
25

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes.
Tyler Landrith, Bing Li, Ashley A Cass, Blair R Conner, Holly LaDuca, Danielle B McKenna, Kara N Maxwell, Susan Domchek, Nichole A Morman, Christopher Heinlen,[...]. NPJ Precis Oncol 2020
25
25

A Population-Based Study of Genes Previously Implicated in Breast Cancer.
Chunling Hu, Steven N Hart, Rohan Gnanaolivu, Hongyan Huang, Kun Y Lee, Jie Na, Chi Gao, Jenna Lilyquist, Siddhartha Yadav, Nicholas J Boddicker,[...]. N Engl J Med 2021
154
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
6
50

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.
Amanda B Spurdle, Sue Healey, Andrew Devereau, Frans B L Hogervorst, Alvaro N A Monteiro, Katherine L Nathanson, Paolo Radice, Dominique Stoppa-Lyonnet, Sean Tavtigian, Barbara Wappenschmidt,[...]. Hum Mutat 2012
204
16

Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.
Neeraj Sharma, Patrick R Sosnay, Anabela S Ramalho, Christopher Douville, Arianna Franca, Laura B Gottschalk, Jeenah Park, Melissa Lee, Briana Vecchio-Pagan, Karen S Raraigh,[...]. Hum Mutat 2014
42
16

Are splicing mutations the most frequent cause of hereditary disease?
Núria López-Bigas, Benjamin Audit, Christos Ouzounis, Genís Parra, Roderic Guigó. FEBS Lett 2005
242
16

Hereditary breast and ovarian cancer: new genes in confined pathways.
Finn Cilius Nielsen, Thomas van Overeem Hansen, Claus Storgaard Sørensen. Nat Rev Cancer 2016
205
16

A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes.
Saundra S Buys, John F Sandbach, Amanda Gammon, Gayle Patel, John Kidd, Krystal L Brown, Lavania Sharma, Jennifer Saam, Johnathan Lancaster, Mary B Daly. Cancer 2017
212
16

Identification of the breast cancer susceptibility gene BRCA2.
R Wooster, G Bignell, J Lancaster, S Swift, S Seal, J Mangion, N Collins, S Gregory, C Gumbs, G Micklem. Nature 1995
16

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.
D M Eccles, G Mitchell, A N A Monteiro, R Schmutzler, F J Couch, A B Spurdle, E B Gómez-García. Ann Oncol 2015
123
16


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.