A citation-based method for searching scientific literature

Michael Bowman, Michael Oldridge, Caroline Archer, Anthony O'Rourke, Joanna McParland, Roel Brekelmans, Anneke Seller, Tracy Lester. Eur J Hum Genet 2012
Times Cited: 33







List of co-cited articles
262 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
87

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
60

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
48

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
42


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
36

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
33

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
76


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
30

Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
117
27


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
27

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
89
24

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
26

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
21


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
21

Facial dysostoses: Etiology, pathogenesis and management.
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
61
21

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
27
25

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
100

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

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
42

Treacher Collins syndrome: correlation between clinical and genetic linkage studies.
M J Dixon, H A Marres, S J Edwards, J Dixon, C W Cremers. Clin Dysmorphol 1994
37
18

Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
Daisuke Sakai, Paul A Trainor. Int J Biochem Cell Biol 2009
57
18

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
75

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 Treacher Collins syndrome. A clinical, radiological, and genetic linkage study on two pedigrees.
H A Marres, C W Cremers, M J Dixon, P L Huygen, F B Joosten. Arch Otolaryngol Head Neck Surg 1995
43
15


"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
52
15

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
68
15


The 5S RNP couples p53 homeostasis to ribosome biogenesis and nucleolar stress.
Katherine E Sloan, Markus T Bohnsack, Nicholas J Watkins. Cell Rep 2013
170
15

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.
Jill Dixon, Ian Ellis, Armand Bottani, Karen Temple, Michael James Dixon. Am J Med Genet A 2004
27
18


Mechanism of eIF6 release from the nascent 60S ribosomal subunit.
Félix Weis, Emmanuel Giudice, Mark Churcher, Li Jin, Christine Hilcenko, Chi C Wong, David Traynor, Robert R Kay, Alan J Warren. Nat Struct Mol Biol 2015
110
15

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
41
15

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

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
15

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
40
15

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
N Draptchinskaia, P Gustavsson, B Andersson, M Pettersson, T N Willig, I Dianzani, S Ball, G Tchernia, J Klar, H Matsson,[...]. Nat Genet 1999
610
15

[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
83

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

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
50

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
83

Treacher Collins syndrome.
M J Dixon. Hum Mol Genet 1996
64
12

Autosomal recessive inheritance of Nager acrofacial dysostosis.
J Chemke, B M Mogilner, I Ben-Itzhak, L Zurkowski, D Ophir. J Med Genet 1988
44
12

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
126
12

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


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.