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: 185







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



Times Cited
  Times     Co-cited
Similarity


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
277
35

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
231
33


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
177
29

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
56
51

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
42
66

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
95
21

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
80
23

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
30
56

Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
112
17

Ribosomopathies: There's strength in numbers.
Eric W Mills, Rachel Green. Science 2017
157
16

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
86
17

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
34
44

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
23
60

Facial dysostoses: Etiology, pathogenesis and management.
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
54
25

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
458
14

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
48
29

Ribosomopathies: human disorders of ribosome dysfunction.
Anupama Narla, Benjamin L Ebert. Blood 2010
479
14

Ribosomopathies: Global process, tissue specific defects.
Pamela C Yelick, Paul A Trainor. Rare Dis 2015
55
23


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
38
31

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
26
46

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
595
12


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
277
11

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
119
11

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
35
31

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
299
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
130
11

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
76
13

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
74
13



The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.
Dorthe H Larsen, Flurina Hari, Julie A Clapperton, Myriam Gwerder, Katrin Gutsche, Matthias Altmeyer, Stephanie Jungmichel, Luis I Toledo, Daniel Fink, Maj-Britt Rask,[...]. Nat Cell Biol 2014
81
12

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
62
16

Ribosomopathies: how a common root can cause a tree of pathologies.
Nadia Danilova, Hanna T Gazda. Dis Model Mech 2015
97
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
626
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
100
10



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
71
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
121
9


Ribosome biogenesis in the yeast Saccharomyces cerevisiae.
John L Woolford, Susan J Baserga. Genetics 2013
414
9

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
Andrew J Finch, Christine Hilcenko, Nicolas Basse, Lesley F Drynan, Beatriz Goyenechea, Tobias F Menne, Africa González Fernández, Paul Simpson, Clive S D'Santos, Mark J Arends,[...]. Genes Dev 2011
174
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
109
9

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
145
9

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
40
22

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
105
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
40
22


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.