A citation-based method for searching scientific literature

Katherine Abell, Robert J Hopkin, Patricia L Bender, Farrah Jackson, Kelly Smallwood, Bonnie Sullivan, Rolf W Stottmann, Howard M Saal, K Nicole Weaver. Am J Med Genet A 2021
Times Cited: 2







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



Times Cited
  Times     Co-cited
Similarity


Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
Kris P T Yu, Ho-Ming Luk, Christopher T Gordon, Genevieve Fung, Myriam Oufadem, Maria M Garcia-Barcelo, Jeanne Amiel, Brian H Y Chung, Ivan F M Lo, Yang Tan Tiong. Clin Dysmorphol 2018
11
100

A review of craniofacial disorders caused by spliceosomal defects.
D Lehalle, D Wieczorek, R M Zechi-Ceide, M R Passos-Bueno, S Lyonnet, J Amiel, C T Gordon. Clin Genet 2015
56
100

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
44
50

Spliceosome structure and function.
Cindy L Will, Reinhard Lührmann. Cold Spring Harb Perspect Biol 2011
862
50

The role of Snu114p during pre-mRNA splicing.
Lily Novak Frazer, Verity Nancollis, Raymond T O'Keefe. Biochem Soc Trans 2008
19
50

Non-alcoholic fatty liver disease in mice with heterozygous mutation in TMED2.
Wenyang Hou, Swati Gupta, Marie-Claude Beauchamp, Libin Yuan, Loydie A Jerome-Majewska. PLoS One 2017
15
50

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Lijia Huang, Megan R Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura Baker, Tabib A Dabir, Katrina M Dipple, William B Dobyns,[...]. Hum Mutat 2016
24
50


PH domain-only protein PHLDA3 is a p53-regulated repressor of Akt.
Tatsuya Kawase, Rieko Ohki, Tatsuhiro Shibata, Shuichi Tsutsumi, Naoko Kamimura, Johji Inazawa, Tsutomu Ohta, Hitoshi Ichikawa, Hiroyuki Aburatani, Fumio Tashiro,[...]. Cell 2009
141
50

Molecular architecture of the human U4/U6.U5 tri-snRNP.
Dmitry E Agafonov, Berthold Kastner, Olexandr Dybkov, Romina V Hofele, Wen-Ti Liu, Henning Urlaub, Reinhard Lührmann, Holger Stark. Science 2016
120
50

"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
50
50

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.
Katherine A Wood, Charlie F Rowlands, Huw B Thomas, Steven Woods, Julieta O'Flaherty, Sofia Douzgou, Susan J Kimber, William G Newman, Raymond T O'Keefe. PLoS One 2020
4
50

Creating reference gene annotation for the mouse C57BL6/J genome assembly.
Jonathan M Mudge, Jennifer Harrow. Mamm Genome 2015
128
50

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König,[...]. Orphanet J Rare Dis 2013
34
50

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
66
50

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo. Hum Genomics 2019
7
50

Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis.
S Rengasamy Venugopalan, E G Farrow, M Lypka. Orthod Craniofac Res 2017
7
50

Spliceosomopathies and neurocristopathies: Two sides of the same coin?
Marie-Claude Beauchamp, Sabrina Shameen Alam, Shruti Kumar, Loydie Anne Jerome-Majewska. Dev Dyn 2020
12
50

The trafficking protein Tmed2/p24beta(1) is required for morphogenesis of the mouse embryo and placenta.
Loydie A Jerome-Majewska, Tala Achkar, Li Luo, Floria Lupu, Elizabeth Lacy. Dev Biol 2010
39
50


Dgcr8 controls neural crest cells survival in cardiovascular development.
Elik Chapnik, Vered Sasson, Robert Blelloch, Eran Hornstein. Dev Biol 2012
36
50

The widely used Wnt1-Cre transgene causes developmental phenotypes by ectopic activation of Wnt signaling.
Ace E Lewis, Harish N Vasudevan, Audrey K O'Neill, Philippe Soriano, Jeffrey O Bush. Dev Biol 2013
136
50

The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome.
Cindy L Will, Claudia Schneider, Markus Hossbach, Henning Urlaub, Reinhard Rauhut, Sayda Elbashir, Thomas Tuschl, Reinhard Lührmann. RNA 2004
105
50


Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5' splice site strength.
Vihandha O Wickramasinghe, Mar Gonzàlez-Porta, David Perera, Arthur R Bartolozzi, Christopher R Sibley, Martina Hallegger, Jernej Ule, John C Marioni, Ashok R Venkitaraman. Genome Biol 2015
49
50

rMATS: robust and flexible detection of differential alternative splicing from replicate RNA-Seq data.
Shihao Shen, Juw Won Park, Zhi-xiang Lu, Lan Lin, Michael D Henry, Ying Nian Wu, Qing Zhou, Yi Xing. Proc Natl Acad Sci U S A 2014
667
50


Whole-mount skeletal staining.
Diana Rigueur, Karen M Lyons. Methods Mol Biol 2014
73
50

Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse.
Marie-Claude Beauchamp, Anissa Djedid, Kevin Daupin, Kayla Clokie, Shruti Kumar, Jacek Majewski, Loydie Anne Jerome-Majewska. PLoS One 2019
8
50

The DAVID Gene Functional Classification Tool: a novel biological module-centric algorithm to functionally analyze large gene lists.
Da Wei Huang, Brad T Sherman, Qina Tan, Jack R Collins, W Gregory Alvord, Jean Roayaei, Robert Stephens, Michael W Baseler, H Clifford Lane, Richard A Lempicki. Genome Biol 2007
50

Development and tissue origins of the mammalian cranial base.
B McBratney-Owen, S Iseki, S D Bamforth, B R Olsen, G M Morriss-Kay. Dev Biol 2008
143
50

Spliceosomopathies: Diseases and mechanisms.
Casey Griffin, Jean-Pierre Saint-Jeannet. Dev Dyn 2020
4
50

STAR: ultrafast universal RNA-seq aligner.
Alexander Dobin, Carrie A Davis, Felix Schlesinger, Jorg Drenkow, Chris Zaleski, Sonali Jha, Philippe Batut, Mark Chaisson, Thomas R Gingeras. Bioinformatics 2013
50


A chemical inhibitor of p53 that protects mice from the side effects of cancer therapy.
P G Komarov, E A Komarova, R V Kondratov, K Christov-Tselkov, J S Coon, M V Chernov, A V Gudkov. Science 1999
50

Tumor protein 53-induced nuclear protein 1 is a major mediator of p53 antioxidant function.
Carla E Cano, Julien Gommeaux, Sylvia Pietri, Marcel Culcasi, Stéphane Garcia, Mylène Seux, Sarah Barelier, Sophie Vasseur, Rose P Spoto, Marie-Josèphe Pébusque,[...]. Cancer Res 2009
112
50

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.
Brett Deml, Linda M Reis, Sanaa Muheisen, David Bick, Elena V Semina. Birth Defects Res A Clin Mol Teratol 2015
18
50

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
283
50

Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
Mari Matsuo, Akemi Yamauchi, Yasushi Ito, Masako Sakauchi, Toshiyuki Yamamoto, Nobuhiko Okamoto, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Kayoko Saito. Brain Dev 2017
10
50


Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
Arindam Sarkar, Lisa T Emrick, Eboni M Smith, Elise G Austin, Yaping Yang, Jill V Hunter, Fernando Scaglia, Seema R Lalani. Am J Med Genet A 2015
11
50

Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors.
Lei Lei, Shou-Yu Yan, Ran Yang, Jia-Yu Chen, Yumei Li, Ye Bu, Nannan Chang, Qinchao Zhou, Xiaojun Zhu, Chuan-Yun Li,[...]. Nucleic Acids Res 2017
36
50


Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
Katherine A Wood, Charlie F Rowlands, Wasay Mohiuddin Shaikh Qureshi, Huw B Thomas, Weronika A Buczek, Tracy A Briggs, Simon J Hubbard, Kathryn E Hentges, William G Newman, Raymond T O'Keefe. Hum Mol Genet 2019
9
50

Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.
Yuri A Zarate, Carla Bell, G Bradley Schaefer. Cleft Palate Craniofac J 2015
10
50

Electroporation and RNA interference in the rodent retina in vivo and in vitro.
Takahiko Matsuda, Constance L Cepko. Proc Natl Acad Sci U S A 2004
723
50

Culturing and Manipulation of O9-1 Neural Crest Cells.
Bao H Nguyen, Mamoru Ishii, Robert E Maxson, Jun Wang. J Vis Exp 2018
1
100

The Spliceosome: The Ultimate RNA Chaperone and Sculptor.
Panagiotis Papasaikas, Juan Valcárcel. Trends Biochem Sci 2016
133
50


IRFinder: assessing the impact of intron retention on mammalian gene expression.
Robert Middleton, Dadi Gao, Aubin Thomas, Babita Singh, Amy Au, Justin J-L Wong, Alexandra Bomane, Bertrand Cosson, Eduardo Eyras, John E J Rasko,[...]. Genome Biol 2017
82
50


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.