A citation-based method for searching scientific literature

Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin-Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain, Anne Dieux-Coeslier, Sylvie Manouvrier, Bertrand Isidor, Marie-Line Jacquemont, Sophie Julia, Valérie Layet, Sophie Naudion, Sylvie Odent, Laurent Pasquier, Sybille Pelras, Nicole Philip, Geneviève Pierquin, Fabienne Prieur, Nisrine Aboussair, Tania Attie-Bitach, Geneviève Baujat, Patricia Blanchet, Catherine Blanchet, Hélène Dollfus, Bérénice Doray, Elise Schaefer, Patrick Edery, Fabienne Giuliano, Alice Goldenberg, Cyril Goizet, Agnès Guichet, Christian Herlin, Laetitia Lambert, Bruno Leheup, Jelena Martinovic, Sandra Mercier, Cyril Mignot, Marie-Laure Moutard, Marie-José Perez, Lucile Pinson, Jacques Puechberty, Marjolaine Willems, Hanitra Randrianaivo, Kateline Szakszon, Annick Toutain, Alain Verloes, Jacqueline Vigneron, Elodie Sanchez, Pierre Sarda, Jean-Louis Laplanche, Corinne Collet. Genet Med 2016
Times Cited: 63







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



Times Cited
  Times     Co-cited
Similarity


Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
Johannes G Dauwerse, Jill Dixon, Saskia Seland, Claudia A L Ruivenkamp, Arie van Haeringen, Lies H Hoefsloot, Dorien J M Peters, Agnes Clement-de Boers, Cornelia Daumer-Haas, Robert Maiwald,[...]. Nat Genet 2011
192
53

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
Natalie C Jones, Megan L Lynn, Karin Gaudenz, Daisuke Sakai, Kazushi Aoto, Jean-Phillipe Rey, Earl F Glynn, Lacey Ellington, Chunying Du, Jill Dixon,[...]. Nat Med 2008
283
28

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Ozge Altug Teber, Gabriele Gillessen-Kaesbach, Sven Fischer, Stefan Böhringer, Beate Albrecht, Angelika Albert, Mine Arslan-Kirchner, Eric Haan, Monika Hagedorn-Greiwe, Christof Hammans,[...]. Eur J Hum Genet 2004
97
26

Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.
Jill Dixon, Natalie C Jones, Lisa L Sandell, Sachintha M Jayasinghe, Jennifer Crane, Jean-Philippe Rey, Michael J Dixon, Paul A Trainor. Proc Natl Acad Sci U S A 2006
236
25

The Roles of RNA Polymerase I and III Subunits Polr1c and Polr1d in Craniofacial Development and in Zebrafish Models of Treacher Collins Syndrome.
Kristin E Noack Watt, Annita Achilleos, Cynthia L Neben, Amy E Merrill, Paul A Trainor. PLoS Genet 2016
47
31


The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.
Benigno C Valdez, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon. Proc Natl Acad Sci U S A 2004
180
22

Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.
Raul G Plomp, Manouk J S van Lieshout, Koen F M Joosten, Eppo B Wolvius, Marc P van der Schroeff, Sarah L Versnel, René M L Poublon, Irene M J Mathijssen. Plast Reconstr Surg 2016
38
34

Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
115
20

Facial dysostoses: Etiology, pathogenesis and management.
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
58
18

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
Michael Bowman, Michael Oldridge, Caroline Archer, Anthony O'Rourke, Joanna McParland, Roel Brekelmans, Anneke Seller, Tracy Lester. Eur J Hum Genet 2012
32
34

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Matthew A Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart L Douglas, Danielle C Lynch, Chandree Beaulieu, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Blanca Gener, Gabriele Gillessen-Kaesbach,[...]. Am J Hum Genet 2012
123
15

Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation.
Daisuke Sakai, Jill Dixon, Annita Achilleos, Michael Dixon, Paul A Trainor. Nat Commun 2016
49
20

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Joris Andrieux, Valérie Malan, Jean-Luc Alessandri, Geneviève Baujat, Clarisse Baumann,[...]. J Med Genet 2012
66
14

Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model.
Marco Chi Chung Lau, Ernest Man Lok Kwong, Keng Po Lai, Jing-Woei Li, Jeff Cheuk Hin Ho, Ting-Fung Chan, Chris Kong Chu Wong, Yun-Jin Jiang, William Ka Fai Tse. Biochim Biophys Acta 2016
28
32


Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
Alexandre Bolze, Nizar Mahlaoui, Minji Byun, Bridget Turner, Nikolaus Trede, Steven R Ellis, Avinash Abhyankar, Yuval Itan, Etienne Patin, Samuel Brebner,[...]. Science 2013
120
12

Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Graeme R B Boocock, Jodi A Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R Durie, Johanna M Rommens. Nat Genet 2003
467
12

Human facial dysostoses.
D Wieczorek. Clin Genet 2013
41
19

Ribosomopathies: There's strength in numbers.
Eric W Mills, Rachel Green. Science 2017
167
12

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Francois P Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J Buckingham, A Micheil Innes, Ethylin Wang Jabs, Jeffrey W Innis, Jane L Schuette, Jerome L Gorski,[...]. Am J Hum Genet 2012
105
11

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.
Daniela V Luquetti, Anne V Hing, Mark J Rieder, Deborah A Nickerson, Emily H Turner, Joshua Smith, Sarah Park, Michael L Cunningham. Am J Med Genet A 2013
50
14

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
K Nicole Weaver, Kristin E Noack Watt, Robert B Hufnagel, Joaquin Navajas Acedo, Luke L Linscott, Kristen L Sund, Patricia L Bender, Rainer König, Charles M Lourenco, Ute Hehr,[...]. Am J Hum Genet 2015
37
18


Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
Elise Schaefer, Corinne Collet, David Genevieve, Marie Vincent, Dietmar R Lohmann, Elodie Sanchez, Chantal Bolender, Marie-Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno,[...]. Genet Med 2014
25
28


Ribosomopathies: Global process, tissue specific defects.
Pamela C Yelick, Paul A Trainor. Rare Dis 2015
55
12

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
C A Wise, L C Chiang, W A Paznekas, M Sharma, M M Musy, J A Ashley, M Lovett, E W Jabs. Proc Natl Acad Sci U S A 1997
112
11

TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.
Alessandra Splendore, Roberto D Fanganiello, Cibele Masotti, Lucas S C Morganti, M Rita Passos-Bueno. Hum Mutat 2005
30
23

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
A Splendore, E O Silva, L G Alonso, A Richieri-Costa, N Alonso, A Rosa, G Carakushanky, D P Cavalcanti, D Brunoni, M R Passos-Bueno. Hum Mutat 2000
77
11

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
Chiara Conte, Maria Rosaria D'Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sangiuolo, Giuseppe Novelli. BMC Med Genet 2011
20
35

TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect.
Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang, Xiaowei Chen. Orphanet J Rare Dis 2019
9
77

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, Eric Richard, Alice Goldenberg, Tomi L Toler, Thomas Guignard, Vincent Gatinois, Marie Vincent, Catherine Blanchet,[...]. Genet Med 2020
22
31

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König,[...]. Orphanet J Rare Dis 2013
34
17


The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
Bianca Gonzales, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon, Benigno C Valdez. Hum Mol Genet 2005
87
9


Mandibulo-facial dysostosis. (Treacher-Collins syndrome).
L E Fazen, J Elmore, H L Nadler. Am J Dis Child 1967
61
9

Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
Rolando B So, Bianca Gonzales, Dale Henning, Jill Dixon, Michael J Dixon, Benigno C Valdez. Gene 2004
31
19

Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
C Isaac, K L Marsh, W A Paznekas, J Dixon, M J Dixon, E W Jabs, U T Meier. Mol Biol Cell 2000
73
9

Treacher Collins Syndrome: the genetics of a craniofacial disease.
Sameep Kadakia, Samuel N Helman, Arvind K Badhey, Masoud Saman, Yadranko Ducic. Int J Pediatr Otorhinolaryngol 2014
39
15

Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.
Eliezer Calo, Bo Gu, Margot E Bowen, Fardin Aryan, Antoine Zalc, Jialiang Liang, Ryan A Flynn, Tomek Swigut, Howard Y Chang, Laura D Attardi,[...]. Nature 2018
61
9

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Nahuel A Paolini, Martin Attwood, Samuel B Sondalle, Carolina Marques Dos Santos Vieira, Anita M van Adrichem, Franca M di Summa, Marie-Françoise O'Donohue, Pierre-Emmanuel Gleizes, Swaksha Rachuri, Joseph W Briggs,[...]. Am J Hum Genet 2017
43
13

Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome.
Zhiqiang Yan, Yu Lu, Yanfei Wang, Xiuju Zhang, Hong Duan, Jing Cheng, Huijun Yuan, Dongyi Han. Exp Ther Med 2018
7
85

Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.
Ying Chen, Luo Guo, Chen-Long Li, Jing Shan, Hai-Song Xu, Jie-Ying Li, Shan Sun, Shao-Juan Hao, Lei Jin, Gang Chai,[...]. Mol Genet Genomics 2018
7
85

The surgical management of Treacher Collins syndrome.
Alistair R M Cobb, Ben Green, Daljit Gill, Peter Ayliffe, Timothy W Lloyd, Neil Bulstrode, David J Dunaway. Br J Oral Maxillofac Surg 2014
21
28

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
Arindam Sarkar, Lisa T Emrick, Eboni M Smith, Elise G Austin, Yaping Yang, Jill V Hunter, Fernando Scaglia, Seema R Lalani. Am J Med Genet A 2015
11
45


A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.
Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Siulan Vendramini, Alfredo Tabith Ju Nior. Clin Dysmorphol 2006
33
15

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.
Robert Smigiel, Natalia Bezniakow, Aleksandra Jakubiak, Michał Błoch, Dariusz Patkowski, Ewa Obersztyn, Maria M Sasiadek. J Appl Genet 2015
13
38


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.