A citation-based method for searching scientific literature

Isabelle Tournier, Myriam Vezain, Alexandra Martins, Françoise Charbonnier, Stéphanie Baert-Desurmont, Sylviane Olschwang, Qing Wang, Marie Pierre Buisine, Johann Soret, Jamal Tazi, Thierry Frébourg, Mario Tosi. Hum Mutat 2008
Times Cited: 119







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



Times Cited
  Times     Co-cited
Similarity


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
24

Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Luca Cartegni, Shern L Chew, Adrian R Krainer. Nat Rev Genet 2002
22

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.
Jessie Auclair, Marie Pierre Busine, Claudine Navarro, Eric Ruano, Gilles Montmain, Françoise Desseigne, Jean Christophe Saurin, Christine Lasset, Valérie Bonadona, Sophie Giraud,[...]. Hum Mutat 2006
66
30

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
C Bonnet, S Krieger, M Vezain, A Rousselin, I Tournier, A Martins, P Berthet, A Chevrier, C Dugast, V Layet,[...]. J Med Genet 2008
92
20

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Bryony A Thompson, Amanda B Spurdle, John-Paul Plazzer, Marc S Greenblatt, Kiwamu Akagi, Fahd Al-Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellá, Johan T den Dunnen,[...]. Nat Genet 2014
298
19

Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Tiina E Raevaara, Mari K Korhonen, Hannes Lohi, Heather Hampel, Elly Lynch, Karin E Lönnqvist, Elke Holinski-Feder, Christian Sutter, Wendy McKinnon, Sekhar Duraisamy,[...]. Gastroenterology 2005
146
18

ESEfinder: A web resource to identify exonic splicing enhancers.
Luca Cartegni, Jinhua Wang, Zhengwei Zhu, Michael Q Zhang, Adrian R Krainer. Nucleic Acids Res 2003
18

Use of splicing reporter minigene assay to evaluate the effect on splicing of unclassified genetic variants.
Pascaline Gaildrat, Audrey Killian, Alexandra Martins, Isabelle Tournier, Thierry Frébourg, Mario Tosi. Methods Mol Biol 2010
85
21


Evaluation of in silico splice tools for decision-making in molecular diagnosis.
Claude Houdayer, Catherine Dehainault, Christophe Mattler, Dorothée Michaux, Virginie Caux-Moncoutier, Sabine Pagès-Berhouet, Catherine Dubois d'Enghien, Anthony Laugé, Laurent Castera, Marion Gauthier-Villars,[...]. Hum Mutat 2008
127
16

Improved splice site detection in Genie.
M G Reese, F H Eeckman, D Kulp, D Haussler. J Comput Biol 1997
16

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
16

In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
Patrizia Lastella, Nicoletta Concetta Surdo, Nicoletta Resta, Ginevra Guanti, Alessandro Stella. BMC Genomics 2006
45
31

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
Joerg Trojan, Stefan Zeuzem, Ann Randolph, Christine Hemmerle, Angela Brieger, Jochen Raedle, Guido Plotz, Josef Jiricny, Giancarlo Marra. Gastroenterology 2002
149
14

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Masanobu Takahashi, Hideki Shimodaira, Corinne Andreutti-Zaugg, Richard Iggo, Richard D Kolodner, Chikashi Ishioka. Cancer Res 2007
105
13

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
13

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, Aurélie Drouet, Stéphanie Baert-Desurmont, Thierry Frébourg, Mario Tosi, Alexandra Martins. PLoS Genet 2016
94
13

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
Elizabeth C Chao, Jonathan L Velasquez, Mavee S L Witherspoon, Laura S Rozek, David Peel, Pauline Ng, Stephen B Gruber, Patrice Watson, Gad Rennert, Hoda Anton-Culver,[...]. Hum Mutat 2008
86
13

A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
Mark Drost, Jos e B M Zonneveld, Linda van Dijk, Hans Morreau, Carli M Tops, Hans F A Vasen, Juul T Wijnen, Niels de Wind. Hum Mutat 2010
44
27

Prediction and assessment of splicing alterations: implications for clinical testing.
Amanda B Spurdle, Fergus J Couch, Frans B L Hogervorst, Paolo Radice, Olga M Sinilnikova. Hum Mutat 2008
90
13

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.
Jean Christophe Théry, Sophie Krieger, Pascaline Gaildrat, Françoise Révillion, Marie-Pierre Buisine, Audrey Killian, Christiane Duponchel, Antoine Rousselin, Dominique Vaur, Jean-Philippe Peyrat,[...]. Eur J Hum Genet 2011
73
16


Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.
Constanze Pagenstecher, Maria Wehner, Waltraut Friedl, Nils Rahner, Stefan Aretz, Nicolaus Friedrichs, Marlies Sengteller, Wolfram Henn, Reinhard Buettner, Peter Propping,[...]. Hum Genet 2006
64
17

Predictive identification of exonic splicing enhancers in human genes.
William G Fairbrother, Ru-Fang Yeh, Phillip A Sharp, Christopher B Burge. Science 2002
795
11


Hereditary colorectal cancer.
Henry T Lynch, Albert de la Chapelle. N Engl J Med 2003
10

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
Rebecca A Barnetson, Nicola Cartwright, Annelot van Vliet, Naila Haq, Kate Drew, Susan Farrington, Nicola Williams, Jon Warner, Harry Campbell, Mary E Porteous,[...]. Hum Mutat 2008
63
15

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
Sharon E Plon, Diana M Eccles, Douglas Easton, William D Foulkes, Maurizio Genuardi, Marc S Greenblatt, Frans B L Hogervorst, Nicoline Hoogerbrugge, Amanda B Spurdle, Sean V Tavtigian. Hum Mutat 2008
554
10

Assessment of functional effects of unclassified genetic variants.
Fergus J Couch, Lene Juel Rasmussen, Robert Hofstra, Alvaro N A Monteiro, Marc S Greenblatt, Niels de Wind. Hum Mutat 2008
80
12

Quantitative evaluation of all hexamers as exonic splicing elements.
Shengdong Ke, Shulian Shang, Sergey M Kalachikov, Irina Morozova, Lin Yu, James J Russo, Jingyue Ju, Lawrence A Chasin. Genome Res 2011
130
10

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
148
10

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
27

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.
Pascaline Gaildrat, Sophie Krieger, Jean-Christophe Théry, Audrey Killian, Antoine Rousselin, Pascaline Berthet, Thierry Frébourg, Agnès Hardouin, Alexandra Martins, Mario Tosi. J Med Genet 2010
33
27

Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.
Emanuele Buratti, Martin Chivers, Jana Královicová, Maurizio Romano, Marco Baralle, Adrian R Krainer, Igor Vorechovsky. Nucleic Acids Res 2007
127
9

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
Andrew Sharp, Gabriella Pichert, Anneke Lucassen, Diana Eccles. Hum Mutat 2004
36
25

Missed threads. The impact of pre-mRNA splicing defects on clinical practice.
Diana Baralle, Anneke Lucassen, Emanuele Buratti. EMBO Rep 2009
82
10

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
22


MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Matthew Mort, Timothy Sterne-Weiler, Biao Li, Edward V Ball, David N Cooper, Predrag Radivojac, Jeremy R Sanford, Sean D Mooney. Genome Biol 2014
89
10

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.
David E Goldgar, Douglas F Easton, Graham B Byrnes, Amanda B Spurdle, Edwin S Iversen, Marc S Greenblatt. Hum Mutat 2008
131
8

Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
Asad Umar, C Richard Boland, Jonathan P Terdiman, Sapna Syngal, Albert de la Chapelle, Josef Rüschoff, Richard Fishel, Noralane M Lindor, Lawrence J Burgart, Richard Hamelin,[...]. J Natl Cancer Inst 2004
8

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
74
10


Mechanisms of pathogenicity in human MSH2 missense mutants.
Saara Ollila, Denis Dermadi Bebek, Josef Jiricny, Minna Nyström. Hum Mutat 2008
44
18

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
Sven Arnold, Daniel D Buchanan, Melissa Barker, Lesley Jaskowski, Michael D Walsh, Genevieve Birney, Michael O Woods, John L Hopper, Mark A Jenkins, Melissa A Brown,[...]. Hum Mutat 2009
53
15

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
Jan Kosinski, Inga Hinrichsen, Janusz M Bujnicki, Peter Friedhoff, Guido Plotz. Hum Mutat 2010
40
20

Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Karin Hardt, Sven Boris Heick, Beate Betz, Timm Goecke, Haniyeh Yazdanparast, Robin Küppers, Kati Servan, Verena Steinke, Nils Rahner, Monika Morak,[...]. Fam Cancer 2011
18
44

Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.
Sean V Tavtigian, Marc S Greenblatt, David E Goldgar, Paolo Boffetta. Hum Mutat 2008
56
14

Loss of exon identity is a common mechanism of human inherited disease.
Timothy Sterne-Weiler, Jonathan Howard, Matthew Mort, David N Cooper, Jeremy R Sanford. Genome Res 2011
118
8

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes.
Kian Huat Lim, Luciana Ferraris, Madeleine E Filloux, Benjamin J Raphael, William G Fairbrother. Proc Natl Acad Sci U S A 2011
166
8


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.