A citation-based method for searching scientific literature

David Baux, Charles Van Goethem, Olivier Ardouin, Thomas Guignard, Anne Bergougnoux, Michel Koenig, Anne-Françoise Roux. Eur J Hum Genet 2021
Times Cited: 2







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



Times Cited
  Times     Co-cited
Similarity


The InSiGHT database: utilizing 100 years of insights into Lynch syndrome.
J P Plazzer, R H Sijmons, M O Woods, P Peltomäki, B Thompson, J T Den Dunnen, F Macrae. Fam Cancer 2013
70
50

VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.
Peter J Freeman, Reece K Hart, Liam J Gretton, Anthony J Brookes, Raymond Dalgleish. Hum Mutat 2018
47
50

ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang,[...]. Nucleic Acids Res 2018
955
50

The Ensembl Variant Effect Predictor.
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
50

The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations.
Cristiane S Rocha, Rodrigo Secolin, Maíra R Rodrigues, Benilton S Carvalho, Iscia Lopes-Cendes. NPJ Genom Med 2020
2
50

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
972
50

VarioML framework for comprehensive variation data representation and exchange.
Myles Byrne, Ivo Fac Fokkema, Owen Lancaster, Tomasz Adamusiak, Anni Ahonen-Bishopp, David Atlan, Christophe Béroud, Michael Cornell, Raymond Dalgleish, Andrew Devereau,[...]. BMC Bioinformatics 2012
12
50

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Ivo F A C Fokkema, Kasper J van der Velde, Mariska K Slofstra, Claudia A L Ruivenkamp, Maartje J Vogel, Rolph Pfundt, Marinus J Blok, Ronald H Lekanne Deprez, Quinten Waisfisz, Kristin M Abbott,[...]. Hum Mutat 2019
10
50

LOVD v.2.0: the next generation in gene variant databases.
Ivo F A C Fokkema, Peter E M Taschner, Gerard C P Schaafsma, J Celli, Jeroen F J Laros, Johan T den Dunnen. Hum Mutat 2011
575
50

The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations.
Cristiane S Rocha, Rodrigo Secolin, Maíra R Rodrigues, Benilton S Carvalho, Iscia Lopes-Cendes. NPJ Genom Med 2020
10
50

Genetics of familial melanoma: 20 years after CDKN2A.
Lauren G Aoude, Karin A W Wadt, Antonia L Pritchard, Nicholas K Hayward. Pigment Cell Melanoma Res 2015
80
50


High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Carla Fuster-García, Gema García-García, Teresa Jaijo, Neus Fornés, Carmen Ayuso, Miguel Fernández-Burriel, Ana Sánchez-De la Morena, Elena Aller, José M Millán. Sci Rep 2018
17
50

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Polona Le Quesne Stabej, Zubin Saihan, Nell Rangesh, Heather B Steele-Stallard, John Ambrose, Alison Coffey, Jenny Emmerson, Elene Haralambous, Yasmin Hughes, Karen P Steel,[...]. J Med Genet 2012
111
50

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Christel Vaché, Thomas Besnard, Pauline le Berre, Gema García-García, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Hanno Jörn Bolz, Jose Millan,[...]. Hum Mutat 2012
74
50


Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Janine Reurink, Adrian Dockery, Dominika Oziębło, G Jane Farrar, Monika Ołdak, Jacoline B Ten Brink, Arthur A Bergen, Tuula Rinne, Helger G Yntema, Ronald J E Pennings,[...]. Int J Mol Sci 2021
1
100

An update on the genetics of usher syndrome.
José M Millán, Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo, Carmen Ayuso. J Ophthalmol 2011
117
50

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.
Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller,[...]. Mol Genet Genomic Med 2017
34
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
156
50

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Andrea M Oza, Marina T DiStefano, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen, Alex Chapin, Nicole J Boczek, Lisa A Schimmenti,[...]. Hum Mutat 2018
126
50

EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat.
Marisa Zallocchi, Katie Binley, Yatish Lad, Scott Ellis, Peter Widdowson, Sharifah Iqball, Vicky Scripps, Michelle Kelleher, Julie Loader, James Miskin,[...]. PLoS One 2014
64
50

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Mayher J Patel, Marina T DiStefano, Andrea M Oza, Madeline Y Hughes, Emma H Wilcox, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen,[...]. Genet Med 2021
1
100

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
D Baux, C Vaché, C Blanchet, M Willems, C Baudoin, M Moclyn, V Faugère, R Touraine, B Isidor, D Dupin-Deguine,[...]. Sci Rep 2017
31
50

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.
Alessandro Liquori, Christel Vaché, David Baux, Catherine Blanchet, Christian Hamel, Sue Malcolm, Michel Koenig, Mireille Claustres, Anne-Françoise Roux. Hum Mutat 2016
55
50

IBS: an illustrator for the presentation and visualization of biological sequences.
Wenzhong Liu, Yubin Xie, Jiyong Ma, Xiaotong Luo, Peng Nie, Zhixiang Zuo, Urs Lahrmann, Qi Zhao, Yueyuan Zheng, Yong Zhao,[...]. Bioinformatics 2015
399
50

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
Pleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, Kareesma Parbhoo, Bregje W van Bon, Jennifer C Dempsey, Dan Doherty, Johan T den Dunnen, Erica H Gerkes, Ilana M Milller,[...]. Genes (Basel) 2021
1
100

DNA variant classification-reconsidering "allele rarity" and "phenotype" criteria in ACMG/AMP guidelines.
Connor D Davieson, Katie E Joyce, Lakshya Sharma, Claire L Shovlin. Eur J Med Genet 2021
1
100

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.
Raquel Pérez-Carro, Fiona Blanco-Kelly, Lilián Galbis-Martínez, Gema García-García, Elena Aller, Blanca García-Sandoval, Pablo Mínguez, Marta Corton, Ignacio Mahíllo-Fernández, Inmaculada Martín-Mérida,[...]. PLoS One 2018
9
50

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Petros Kountouris, Coralea Stephanou, Carsten W Lederer, Joanne Traeger-Synodinos, Celeste Bento, Cornelis L Harteveld, Eirini Fylaktou, Tamara T Koopmann, Hashim Halim-Fikri, Kyriaki Michailidou,[...]. Hum Mutat 2021
1
100

Non-USH2A mutations in USH2 patients.
Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet, Patrick Calvas, Christian Hamel,[...]. Hum Mutat 2012
48
50

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations.
Kalyan Dulla, Ralph Slijkerman, Hester C van Diepen, Silvia Albert, Margo Dona, Wouter Beumer, Janne J Turunen, Hee Lam Chan, Iris A Schulkens, Lars Vorthoren,[...]. Mol Ther 2021
12
50

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
Sandie Le Guédard-Méreuze, Christel Vaché, David Baux, Valérie Faugère, Lise Larrieu, Caroline Abadie, Andreas Janecke, Mireille Claustres, Anne-Françoise Roux, Sylvie Tuffery-Giraud. Hum Mutat 2010
33
50

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.
Xavier Gerard, Alejandro Garanto, Jean-Michel Rozet, Rob W J Collin. Adv Exp Med Biol 2016
18
50

Has retinal gene therapy come of age? From bench to bedside and back to bench.
Ivana Trapani, Alberto Auricchio. Hum Mol Genet 2019
24
50

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Leonardo Colombo, Paolo E Maltese, Marco Castori, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini,[...]. Invest Ophthalmol Vis Sci 2021
3
50

Functional analysis of splicing mutations in exon 7 of NF1 gene.
Irene Bottillo, Alessandro De Luca, Annalisa Schirinzi, Valentina Guida, Isabella Torrente, Stefano Calvieri, Cristina Gervasini, Lidia Larizza, Antonio Pizzuti, Bruno Dallapiccola. BMC Med Genet 2007
26
50

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
50

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Crystel Bonnet, Zied Riahi, Sandra Chantot-Bastaraud, Luce Smagghe, Mélanie Letexier, Charles Marcaillou, Gaëlle M Lefèvre, Jean-Pierre Hardelin, Aziz El-Amraoui, Amrit Singh-Estivalet,[...]. Eur J Hum Genet 2016
51
50

Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.
Adi Wilf-Yarkoni, Oded Shor, Avi Fellner, Mark Andrew Hellmann, Elon Pras, Hagit Yonath, Shiri Shkedi-Rafid, Lina Basel-Salmon, Lili Bazak, Ruth Eliahou,[...]. Neurol Genet 2021
3
50

The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.
Gema García-García, Thomas Besnard, David Baux, Christel Vaché, Elena Aller, Sue Malcolm, Mireille Claustres, Jose M Millan, Anne-Françoise Roux. Mol Vis 2013
12
50

Four-year follow-up of diagnostic service in USH1 patients.
Anne-Françoise Roux, Valérie Faugère, Christel Vaché, David Baux, Thomas Besnard, Susana Léonard, Catherine Blanchet, Christian Hamel, Michel Mondain, Brigitte Gilbert-Dussardier,[...]. Invest Ophthalmol Vis Sci 2011
41
50

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Tracy Brandt, Laura M Sack, Dolores Arjona, Duanjun Tan, Hui Mei, Hong Cui, Hua Gao, Lora J H Bean, Arunkanth Ankala, Daniela Del Gaudio,[...]. Genet Med 2020
25
50

Audiological findings in 100 USH2 patients.
C Abadie, C Blanchet, D Baux, L Larrieu, T Besnard, P Ravel, R Biboulet, C Hamel, S Malcolm, M Mondain,[...]. Clin Genet 2012
25
50

Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations.
Rosemary Ida Kabahuma, Wolf-Dieter Schubert, Christiaan Labuschagne, Denise Yan, Susan Halloran Blanton, Michael Sean Pepper, Xue Zhong Liu. Genes (Basel) 2021
2
50


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.