A citation-based method for searching scientific literature

Chiara Conte, Maria Rosaria D'Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sangiuolo, Giuseppe Novelli. BMC Med Genet 2011
Times Cited: 20







List of co-cited articles
75 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
198
65

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
245
45

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
40

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
79
40

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
186
35


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
74
35

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
32
35

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
33
35

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin-Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain,[...]. Genet Med 2016
68
35

[Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene].
Hongbo Li, Xu Zhang, Zhenyue Li, Jing Chen, Yu Lu, Jingjie Jia, Huijun Yuan, Dongyi Han. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2012
6
100

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
113
30

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
30


Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
Jan-Ulrich Schlump, Anja Stein, Ute Hehr, Tanja Karen, Claudia Möller-Hartmann, Nursel H Elcioglu, Nadja Bogdanova, Hartmut Fritz Woike, Dietmar R Lohmann, Ursula Felderhoff-Mueser,[...]. Eur J Pediatr 2012
14
35

A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.
Yan Wang, Xiao-Juan Yin, Tao Han, Wei Peng, Hong-Lin Wu, Xin Liu, Zhi-Chun Feng. Mol Genet Genomics 2014
7
71

Facial dysostoses: Etiology, pathogenesis and management.
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
61
25

A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.
Xu Zhang, Yue Fan, Ying Zhang, Huadan Xue, Xiaowei Chen. Int J Pediatr Otorhinolaryngol 2013
8
62

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
71

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
71

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
292
20

Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
117
20

Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.
Bożena Anna Marszałek-Kruk, Piotr Wójcicki, Robert Smigiel, Wiesław H Trzeciak. J Appl Genet 2012
6
66




Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
Cibele Masotti, Camila C Ornelas, Alessandra Splendore-Gordonos, Ricardo Moura, Têmis M Félix, Nivaldo Alonso, Anamaria A Camargo, Maria Rita Passos-Bueno. BMC Med Genet 2009
14
28


Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.
Alberto Ciccia, Jen-Wei Huang, Lior Izhar, Mathew E Sowa, J Wade Harper, Stephen J Elledge. Proc Natl Acad Sci U S A 2014
69
20

First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome.
J Beygo, K Buiting, S Seland, H-J Lüdecke, U Hehr, C Lich, B Prager, D R Lohmann, D Wieczorek. Mol Syndromol 2012
13
30

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
10
40



SILAC analysis of oxidative stress-mediated proteins in human pneumocytes: new role for treacle.
Xunbao Duan, Steve G Kelsen, Allen B Clarkson, Rong Ji, Salim Merali. Proteomics 2010
18
16

Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF.
Chen-I Lin, Ning-Hsing Yeh. Biochem Biophys Res Commun 2009
27
15

Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos-Bueno. Eur J Hum Genet 2003
28
15

Treacher Collins Syndrome with choanal atresia: a case report and review of disease features.
Eduardo C Andrade, Vanier S Júnior, Ana L S Didoni, Priscila Z Freitas, Araken F Carneiro, Fabiana R Yoshimoto. Braz J Otorhinolaryngol 2005
11
27

Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene.
A J Gladwin, J Dixon, S K Loftus, S Edwards, J J Wasmuth, R C Hennekam, M J Dixon. Hum Mol Genet 1996
59
15

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
15


Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis.
Katsumi Horiuchi, Tadashi Ariga, Hirotaka Fujioka, Kunihiro Kawashima, Yuhei Yamamoto, Hiroharu Igawa, Tsuneki Sugihara, Yukio Sakiyama. Am J Med Genet A 2005
14
21


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
49
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
52
15

Fishing the molecular bases of Treacher Collins syndrome.
Andrea M J Weiner, Nadia L Scampoli, Nora B Calcaterra. PLoS One 2012
33
15

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
Marie Vincent, Corinne Collet, Alain Verloes, Laetitia Lambert, Christian Herlin, Catherine Blanchet, Elodie Sanchez, Séverine Drunat, Jacqueline Vigneron, Jean-Louis Laplanche,[...]. Eur J Hum Genet 2014
13
23

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.
Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang. Mol Genet Genomic Med 2020
4
75

Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
Chuan Zhang, Lisha An, Huiqin Xue, Shengju Hao, Yousheng Yan, Qinghua Zhang, Xiaohua Jin, Qian Li, Bingbo Zhou, Xuan Feng,[...]. J Clin Lab Anal 2021
6
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.