A citation-based method for searching scientific literature

Xinmiao Fan, Yibei Wang, Yue Fan, Huiqian Du, Nana Luo, Shuyang Zhang, Xiaowei Chen. Orphanet J Rare Dis 2019
Times Cited: 9







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



Times Cited
  Times     Co-cited
Similarity


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
63
77

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
192
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
97
55

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
32
55

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
44

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
66

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
31
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
25
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
33

Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome.
Xiaohong Li, Yu Su, Shasha Huang, Bo Gao, Dejun Zhang, Xiaobin Wang, Qin Gao, Hong Pang, Yan Zhao, Yongyi Yuan,[...]. Acta Otolaryngol 2019
5
60

Facial dysostoses: Etiology, pathogenesis and management.
Paul A Trainor, Brian T Andrews. Am J Med Genet C Semin Med Genet 2013
58
33

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
42

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
77
33

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
33

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
42

Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.
Jing Liu, Pengsiyuan Lin, Jialun Pang, Zhengjun Jia, Ying Peng, Hui Xi, Lingqian Wu, Zhuo Li, Hua Wang. Mol Genet Genomic Med 2020
4
75


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
73
33


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
22
33

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
22

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
28

[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
33

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
236
22

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
7
28


Treacher Collins syndrome: etiology, pathogenesis and prevention.
Paul A Trainor, Jill Dixon, Michael J Dixon. Eur J Hum Genet 2009
115
22


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
112
22


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
180
22

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
66
22

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
33

A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.
Haisheng Zeng, Mingyu Xie, Jianbo Li, Haoqiang Xie, Xiaomei Lu. Int J Pediatr Otorhinolaryngol 2021
2
100

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.
Ingeborg Barisic, Ljubica Odak, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Larraitz Arriola, Jorieke Bergman,[...]. Eur J Hum Genet 2014
64
11

Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature.
Jan-Ulrich Schlump, Anja Stein, Ute Hehr, Tanja Karen, Claudia Möller-Hartmann, Nursel H Elcioglu, Nadja Bogdanova, Hartmut Fritz Woike, Dietmar R Lohmann, Ursula Felderhoff-Mueser,[...]. Eur J Pediatr 2012
14
11

Ultrasonographic prenatal diagnosis of Treacher Collins syndrome: a case report.
Pornpimol Ruangvutilert, Anuwat Sutantawibul, Prasert Sunsaneevithayakul, Chanin Limwongse. J Med Assoc Thai 2003
7
14

Prenatal three-dimensional sonographic images associated with Treacher Collins syndrome.
T Y Hsu, J J Hsu, S Y Chang, M S Chang. Ultrasound Obstet Gynecol 2002
12
11

A range of malar and masseteric hypoplasia exists in Treacher Collins syndrome.
Kenneth R Wong, Miles J Pfaff, Christopher C Chang, Roberto Travieso, Derek M Steinbacher. J Plast Reconstr Aesthet Surg 2013
14
11

Antenatal three-dimensional sonographic features of Treacher Collins syndrome.
Y Tanaka, K Kanenishi, H Tanaka, T Yanagihara, T Hata. Ultrasound Obstet Gynecol 2002
14
11

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
13
11

Nager syndrome.
Yuri Lansinger, Ghazi Rayan. J Hand Surg Am 2015
8
12

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
11

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
François-Olivier Desmet, Dalil Hamroun, Marine Lalande, Gwenaëlle Collod-Béroud, Mireille Claustres, Christophe Béroud. Nucleic Acids Res 2009
11

Treacher Collins Syndrome.
Albaraa Aljerian, Mirko S Gilardino. Clin Plast Surg 2019
11
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
38
11

Compound heterozygous variants of the FBXO7 gene resulting in infantile-onset Parkinsonian-pyramidal syndrome in siblings of a Chinese family.
Xiaohua Jin, Lisha An, Shengju Hao, Qian Liu, Qinhua Zhang, Xing Wang, Xuan Feng, Chuan Zhang, Xiaofang Cao, Yousheng Yan,[...]. J Clin Lab Anal 2020
4
25

The surgical management of Treacher Collins syndrome.
Alistair R M Cobb, Ben Green, Daljit Gill, Peter Ayliffe, Timothy W Lloyd, Neil Bulstrode, David J Dunaway. Br J Oral Maxillofac Surg 2014
21
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.