A citation-based method for searching scientific literature

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, Christiane Zweier, Bronwyn Kerr, Ana M Cobo, Joaquín F Toral, A Jeannette M Hoogeboom, Dietmar R Lohmann, Ute Hehr, Michael J Dixon, Martijn H Breuning, Dagmar Wieczorek. Nat Genet 2011
Times Cited: 198







List of co-cited articles
1022 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


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
61

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
30

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
42

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
25

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
23


Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Isabelle Thiffault, Nicole I Wolf, Diane Forget, Kether Guerrero, Luan T Tran, Karine Choquet, Mathieu Lavallée-Adam, Christian Poitras, Bernard Brais, Grace Yoon,[...]. Nat Commun 2015
86
23

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
20

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
54

Ribosomopathies: There's strength in numbers.
Eric W Mills, Rachel Green. Science 2017
191
18

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
37

Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
117
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
29
44

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
25

Ribosomopathies: Global process, tissue specific defects.
Pamela C Yelick, Paul A Trainor. Rare Dis 2015
58
22

Ribosomopathies: human disorders of ribosome dysfunction.
Anupama Narla, Benjamin L Ebert. Blood 2010
508
13

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
48

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
13

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
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
477
12


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
28

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
26

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Hanna T Gazda, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Hal Schneider, Natasha Darras, Catherine Hasman, Colin A Sieff, Peter E Newburger,[...]. Am J Hum Genet 2008
290
11

Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.
Rajiv K Khajuria, Mathias Munschauer, Jacob C Ulirsch, Claudia Fiorini, Leif S Ludwig, Sean K McFarland, Nour J Abdulhay, Harrison Specht, Hasmik Keshishian, D R Mani,[...]. Cell 2018
161
11

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
25
44

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Geneviève Bernard, Eliane Chouery, Maria Lisa Putorti, Martine Tétreault, Asako Takanohashi, Giovanni Carosso, Isabelle Clément, Odile Boespflug-Tanguy, Diana Rodriguez, Valérie Delague,[...]. Am J Hum Genet 2011
154
10

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
14

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
12


Ribosomopathies: how a common root can cause a tree of pathologies.
Nadia Danilova, Hanna T Gazda. Dis Model Mech 2015
107
10

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
123
10

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
Benjamin L Ebert, Jennifer Pretz, Jocelyn Bosco, Cindy Y Chang, Pablo Tamayo, Naomi Galili, Azra Raza, David E Root, Eyal Attar, Steven R Ellis,[...]. Nature 2008
647
10

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.
M Ridanpää, H van Eenennaam, K Pelin, R Chadwick, C Johnson, B Yuan, W vanVenrooij, G Pruijn, R Salmela, S Rockas,[...]. Cell 2001
310
10

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
10

Molecular structures of unbound and transcribing RNA polymerase III.
Niklas A Hoffmann, Arjen J Jakobi, María Moreno-Morcillo, Sebastian Glatt, Jan Kosinski, Wim J H Hagen, Carsten Sachse, Christoph W Müller. Nature 2015
115
10



Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning.
Nadya Kondrashov, Aya Pusic, Craig R Stumpf, Kunihiko Shimizu, Andrew C Hsieh, Junko Ishijima, Toshihiko Shiroishi, Maria Barna. Cell 2011
356
10

Cell-fate determination by ubiquitin-dependent regulation of translation.
Achim Werner, Shintaro Iwasaki, Colleen A McGourty, Sofia Medina-Ruiz, Nia Teerikorpi, Indro Fedrigo, Nicholas T Ingolia, Michael Rape. Nature 2015
100
9

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
9

Facial dysostoses: Etiology, pathogenesis and management.
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
61
14


DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Hemanth Tummala, Amanda J Walne, Mike Williams, Nicholas Bockett, Laura Collopy, Shirleny Cardoso, Alicia Ellison, Rob Wynn, Thierry Leblanc, Jude Fitzgibbon,[...]. Am J Hum Genet 2016
50
18

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Hanna T Gazda, Milena Preti, Mee Rie Sheen, Marie-Françoise O'Donohue, Adrianna Vlachos, Stella M Davies, Antonis Kattamis, Leana Doherty, Michael Landowski, Christopher Buros,[...]. Hum Mutat 2012
106
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
45
20

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Karen W Gripp, Cynthia Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica Xiao-Ling Chong, Lisa Pilchman, Rebecca Sahraoui, Deborah L Stabley, Katia Sol-Church. Am J Med Genet A 2014
79
11

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.
Kelly A McGowan, Jun Z Li, Christopher Y Park, Veronica Beaudry, Holly K Tabor, Amit J Sabnis, Weibin Zhang, Helmut Fuchs, Martin Hrabé de Angelis, Richard M Myers,[...]. Nat Genet 2008
269
9

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
45

Dysregulation of RNA polymerase I transcription during disease.
K M Hannan, E Sanij, L I Rothblum, R D Hannan, R B Pearson. Biochim Biophys Acta 2013
81
11


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.