A citation-based method for searching scientific literature

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
Times Cited: 13






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



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  Times     Co-cited
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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
10
76

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
10
76

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
7
53

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
7
53

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
6
46

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
. Nat Genet 1996
229
6
46

"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
5
38

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
5
38

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
5
38

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
5
38

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
4
30

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
4
30

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
4
30

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
4
30

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
4
30

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
3
23

Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
117
3
23

The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
S J Edwards, A J Gladwin, M J Dixon. Am J Hum Genet 1997
97
3
23

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
J C Czeschik, C Voigt, Y Alanay, B Albrecht, S Avci, D Fitzpatrick, D R Goudie, U Hehr, A J Hoogeboom, H Kayserili,[...]. Hum Genet 2013
45
3
23

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
109
3
23

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
35
3
23

Autosomal recessive inheritance of Nager acrofacial dysostosis.
J Chemke, B M Mogilner, I Ben-Itzhak, L Zurkowski, D Ophir. J Med Genet 1988
44
3
23

Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation.
Hiroki Watanabe, Masafumi Shionyu, Tomoatsu Kimura, Koji Kimata, Hideto Watanabe. J Biol Chem 2007
38
3
23

Postaxial acrofacial dysostosis syndrome.
M Miller, R Fineman, D W Smith. J Pediatr 1979
79
3
23

Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.
Daisuke Sakai, Jill Dixon, Michael J Dixon, Paul A Trainor. PLoS Genet 2012
47
3
23

The human retinoblastoma gene is imprinted.
Deniz Kanber, Tea Berulava, Ole Ammerpohl, Diana Mitter, Julia Richter, Reiner Siebert, Bernhard Horsthemke, Dietmar Lohmann, Karin Buiting. PLoS Genet 2009
80
3
23

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
3
23

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.
A Splendore, E W Jabs, M R Passos-Bueno. J Med Genet 2002
46
3
23

The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus.
S T Winokur, R Shiang. Hum Mol Genet 1998
57
3
23

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
3
23

Facial dysostoses: Etiology, pathogenesis and management.
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
61
3
23

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
3
23

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
3
42

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
3
42

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
3
30

The mandibulofacial dysostosis; a new hereditary syndrome.
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
126
2
15

The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).
D Poswillo. Br J Oral Surg 1975
174
2
15

Treacher Collins syndrome.
Jill Dixon, Paul Trainor, Michael J Dixon. Orthod Craniofac Res 2007
54
2
15

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
2
15

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
2
15

Treacher Collins syndrome.
M J Dixon. Hum Mol Genet 1996
64
2
15

Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients.
JingXian Fang, Takeshi Uchiumi, Mikako Yagi, Shinya Matsumoto, Rie Amamoto, Toshiro Saito, Shinya Takazaki, Tomotake Kanki, Haruyoshi Yamaza, Kazuaki Nonaka,[...]. Biosci Rep 2012
19
2
15

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome.
Shelley J Kennedy, Ahmad S Teebi. Am J Med Genet A 2004
13
2
15

Exome sequencing identifies the cause of a mendelian disorder.
Sarah B Ng, Kati J Buckingham, Choli Lee, Abigail W Bigham, Holly K Tabor, Karin M Dent, Chad D Huff, Paul T Shannon, Ethylin Wang Jabs, Deborah A Nickerson,[...]. Nat Genet 2010
1302
2
15

X-linked syndrome of branchial arch and other defects.
H V Toriello, J V Higgins, J Abrahamson, D F Waterman, W D Moore. Am J Med Genet 1985
19
2
15

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.
P Hedera, H V Toriello, E M Petty. J Med Genet 2002
8
2
25

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
Joe Rainger, Hemant Bengani, Leigh Campbell, Eve Anderson, Kishan Sokhi, Wayne Lam, Angelika Riess, Morad Ansari, Sarah Smithson, Melissa Lees,[...]. Hum Mol Genet 2012
39
2
15

Transcription is required for establishment of germline methylation marks at imprinted genes.
Mita Chotalia, Sebastien A Smallwood, Nico Ruf, Claire Dawson, Diana Lucifero, Marga Frontera, Katherine James, Wendy Dean, Gavin Kelsey. Genes Dev 2009
221
2
15

Protection against de novo methylation is instrumental in maintaining parent-of-origin methylation inherited from the gametes.
Charlotte Proudhon, Rachel Duffié, Sophie Ajjan, Michael Cowley, Julian Iranzo, Guillermo Carbajosa, Heba Saadeh, Michelle L Holland, Rebecca J Oakey, Vardhman K Rakyan,[...]. Mol Cell 2012
86
2
15

A screen for retrotransposed imprinted genes reveals an association between X chromosome homology and maternal germ-line methylation.
Andrew J Wood, Roland G Roberts, David Monk, Gudrun E Moore, Reiner Schulz, Rebecca J Oakey. PLoS Genet 2007
90
2
15


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.

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