Elise Schaefer, Corinne Collet, David Genevieve, Marie Vincent, Dietmar R Lohmann, Elodie Sanchez, Chantal Bolender, Marie-Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno, Dagmar Wieczorek, Lionel van Maldergem, Bérénice Doray. Genet Med 2014
Times Cited: 27
Times Cited: 27
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
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
81
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
. Nat Genet 1996
. Nat Genet 1996
44
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
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
37
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
Benigno C Valdez, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon. Proc Natl Acad Sci U S A 2004
33
Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
29
Facial dysostoses: Etiology, pathogenesis and management.
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
29
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
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
29
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
Sameep Kadakia, Samuel N Helman, Arvind K Badhey, Masoud Saman, Yadranko Ducic. Int J Pediatr Otorhinolaryngol 2014
29
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
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
25
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
Michael Bowman, Michael Oldridge, Caroline Archer, Anthony O'Rourke, Joanna McParland, Roel Brekelmans, Anneke Seller, Tracy Lester. Eur J Hum Genet 2012
25
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
Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin-Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain,[...]. Genet Med 2016
25
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
Jill Dixon, Ian Ellis, Armand Bottani, Karen Temple, Michael James Dixon. Am J Med Genet A 2004
22
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
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
22
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
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
22
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
Daisuke Sakai, Jill Dixon, Annita Achilleos, Michael Dixon, Paul A Trainor. Nat Commun 2016
22
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
Kristin E Noack Watt, Annita Achilleos, Cynthia L Neben, Amy E Merrill, Paul A Trainor. PLoS Genet 2016
22
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
S J Edwards, A J Gladwin, M J Dixon. Am J Hum Genet 1997
18
The transcriptional activity of RNA polymerase I is a key determinant for the level of all ribosome components.
Arnaud Laferté, Emmanuel Favry, André Sentenac, Michel Riva, Christophe Carles, Stéphane Chédin. Genes Dev 2006
Arnaud Laferté, Emmanuel Favry, André Sentenac, Michel Riva, Christophe Carles, Stéphane Chédin. Genes Dev 2006
18
Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.
Paul A Trainor, Amy E Merrill. Biochim Biophys Acta 2014
Paul A Trainor, Amy E Merrill. Biochim Biophys Acta 2014
18
Disruption of the nucleolus mediates stabilization of p53 in response to DNA damage and other stresses.
Carlos P Rubbi, Jo Milner. EMBO J 2003
Carlos P Rubbi, Jo Milner. EMBO J 2003
18
Fishing the molecular bases of Treacher Collins syndrome.
Andrea M J Weiner, Nadia L Scampoli, Nora B Calcaterra. PLoS One 2012
Andrea M J Weiner, Nadia L Scampoli, Nora B Calcaterra. PLoS One 2012
18
Ribosomopathies: Global process, tissue specific defects.
Pamela C Yelick, Paul A Trainor. Rare Dis 2015
Pamela C Yelick, Paul A Trainor. Rare Dis 2015
18
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
Bianca Gonzales, Dale Henning, Rolando B So, Jill Dixon, Michael J Dixon, Benigno C Valdez. Hum Mol Genet 2005
14
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
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
30
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
A Splendore, E W Jabs, M R Passos-Bueno. J Med Genet 2002
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
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
14
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
Joe Rainger, Hemant Bengani, Leigh Campbell, Eve Anderson, Kishan Sokhi, Wayne Lam, Angelika Riess, Morad Ansari, Sarah Smithson, Melissa Lees,[...]. Hum Mol Genet 2012
14
The emerging roles of ribosome biogenesis in craniofacial development.
Adam P Ross, Konstantinos S Zarbalis. Front Physiol 2014
Adam P Ross, Konstantinos S Zarbalis. Front Physiol 2014
15
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
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
14
14
Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
Daisuke Sakai, Paul A Trainor. Int J Biochem Cell Biol 2009
Daisuke Sakai, Paul A Trainor. Int J Biochem Cell Biol 2009
14
Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome.
Toshiya Hayano, Mitsuaki Yanagida, Yoshio Yamauchi, Takashi Shinkawa, Toshiaki Isobe, Nobuhiro Takahashi. J Biol Chem 2003
Toshiya Hayano, Mitsuaki Yanagida, Yoshio Yamauchi, Takashi Shinkawa, Toshiaki Isobe, Nobuhiro Takahashi. J Biol Chem 2003
14
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
Alberto Ciccia, Jen-Wei Huang, Lior Izhar, Mathew E Sowa, J Wade Harper, Stephen J Elledge. Proc Natl Acad Sci U S A 2014
14
RNA polymerase I structure and transcription regulation.
Christoph Engel, Sarah Sainsbury, Alan C Cheung, Dirk Kostrewa, Patrick Cramer. Nature 2013
Christoph Engel, Sarah Sainsbury, Alan C Cheung, Dirk Kostrewa, Patrick Cramer. Nature 2013
14
Crystal structure of the 14-subunit RNA polymerase I.
Carlos Fernández-Tornero, María Moreno-Morcillo, Umar J Rashid, Nicholas M I Taylor, Federico M Ruiz, Tim Gruene, Pierre Legrand, Ulrich Steuerwald, Christoph W Müller. Nature 2013
Carlos Fernández-Tornero, María Moreno-Morcillo, Umar J Rashid, Nicholas M I Taylor, Federico M Ruiz, Tim Gruene, Pierre Legrand, Ulrich Steuerwald, Christoph W Müller. Nature 2013
14
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
Niklas A Hoffmann, Arjen J Jakobi, María Moreno-Morcillo, Sebastian Glatt, Jan Kosinski, Wim J H Hagen, Carsten Sachse, Christoph W Müller. Nature 2015
14
Conservation between the RNA polymerase I, II, and III transcription initiation machineries.
Alessandro Vannini, Patrick Cramer. Mol Cell 2012
Alessandro Vannini, Patrick Cramer. Mol Cell 2012
14
"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
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
11
Treacher Collins syndrome: perspectives in evaluation and treatment.
J C Posnick. J Oral Maxillofac Surg 1997
J C Posnick. J Oral Maxillofac Surg 1997
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
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
11
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
N Draptchinskaia, P Gustavsson, B Andersson, M Pettersson, T N Willig, I Dianzani, S Ball, G Tchernia, J Klar, H Matsson,[...]. Nat Genet 1999
11
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
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
11
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
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
11
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
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
11
A dynamic transcriptional network communicates growth potential to ribosome synthesis and critical cell size.
Paul Jorgensen, Ivan Rupes, Jeffrey R Sharom, Lisa Schneper, James R Broach, Mike Tyers. Genes Dev 2004
Paul Jorgensen, Ivan Rupes, Jeffrey R Sharom, Lisa Schneper, James R Broach, Mike Tyers. Genes Dev 2004
11
The mandibulofacial dysostosis; a new hereditary syndrome.
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
A FRANCESCHETTI, D KLEIN. Acta Ophthalmol (Copenh) 1949
11
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
H A Marres, C W Cremers, M J Dixon, P L Huygen, F B Joosten. Arch Otolaryngol Head Neck Surg 1995
11
The Bowen-Conradi syndrome protein Nep1 (Emg1) has a dual role in eukaryotic ribosome biogenesis, as an essential assembly factor and in the methylation of Ψ1191 in yeast 18S rRNA.
Britta Meyer, Jan Philip Wurm, Peter Kötter, Matthias S Leisegang, Valeska Schilling, Markus Buchhaupt, Martin Held, Ute Bahr, Michael Karas, Alexander Heckel,[...]. Nucleic Acids Res 2011
Britta Meyer, Jan Philip Wurm, Peter Kötter, Matthias S Leisegang, Valeska Schilling, Markus Buchhaupt, Martin Held, Ute Bahr, Michael Karas, Alexander Heckel,[...]. Nucleic Acids Res 2011
11
The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).
D Poswillo. Br J Oral Surg 1975
D Poswillo. Br J Oral Surg 1975
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.