A citation-based method for searching scientific literature

N S Heiss, S W Knight, T J Vulliamy, S M Klauck, S Wiemann, P J Mason, A Poustka, I Dokal. Nat Genet 1998
Times Cited: 626







List of co-cited articles
1570 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity



Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
Amanda J Walne, Tom Vulliamy, Anna Marrone, Richard Beswick, Michael Kirwan, Yuka Masunari, Fat-Hia Al-Qurashi, Mahmoud Aljurf, Inderjeet Dokal. Hum Mol Genet 2007
201
29

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Tom Vulliamy, Richard Beswick, Michael Kirwan, Anna Marrone, Martin Digweed, Amanda Walne, Inderjeet Dokal. Proc Natl Acad Sci U S A 2008
202
28

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
T Vulliamy, A Marrone, F Goldman, A Dearlove, M Bessler, P J Mason, I Dokal. Nature 2001
679
24

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
Sharon A Savage, Neelam Giri, Gabriela M Baerlocher, Nick Orr, Peter M Lansdorp, Blanche P Alter. Am J Hum Genet 2008
266
24

Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.
Schraga Schwartz, Douglas A Bernstein, Maxwell R Mumbach, Marko Jovanovic, Rebecca H Herbst, Brian X León-Ricardo, Jesse M Engreitz, Mitchell Guttman, Rahul Satija, Eric S Lander,[...]. Cell 2014
415
22

Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.
Davide Ruggero, Silvia Grisendi, Francesco Piazza, Eduardo Rego, Francesca Mari, Pulivarthi H Rao, Carlos Cordon-Cardo, Pier Paolo Pandolfi. Science 2003
298
21

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.
Franklin Zhong, Sharon A Savage, Marina Shkreli, Neelam Giri, Lea Jessop, Timothy Myers, Renee Chen, Blanche P Alter, Steven E Artandi. Genes Dev 2011
162
21

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Bridget D Stuart, Jungmin Choi, Samir Zaidi, Chao Xing, Brody Holohan, Rui Chen, Mihwa Choi, Pooja Dharwadkar, Fernando Torres, Carlos E Girod,[...]. Nat Genet 2015
230
21

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.
Susan E Stanley, Dustin L Gable, Christa L Wagner, Thomas M Carlile, Vidya Sagar Hanumanthu, Joshua D Podlevsky, Sara E Khalil, Amy E DeZern, Maria F Rojas-Duran, Carolyn D Applegate,[...]. Sci Transl Med 2016
92
22

Pseudouridine profiling reveals regulated mRNA pseudouridylation in yeast and human cells.
Thomas M Carlile, Maria F Rojas-Duran, Boris Zinshteyn, Hakyung Shin, Kristen M Bartoli, Wendy V Gilbert. Nature 2014
449
20

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
Hemanth Tummala, Amanda Walne, Laura Collopy, Shirleny Cardoso, Josu de la Fuente, Sarah Lawson, James Powell, Nicola Cooper, Alison Foster, Shehla Mohammed,[...]. J Clin Invest 2015
101
19

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
Mary Armanios, Jiunn-Liang Chen, Yen-Pei Christy Chang, Robert A Brodsky, Anita Hawkins, Constance A Griffin, James R Eshleman, Alan R Cohen, Aravinda Chakravarti, Ada Hamosh,[...]. Proc Natl Acad Sci U S A 2005
291
18


Telomerase mutations in families with idiopathic pulmonary fibrosis.
Mary Y Armanios, Julian J-L Chen, Joy D Cogan, Jonathan K Alder, Roxann G Ingersoll, Cheryl Markin, William E Lawson, Mingyi Xie, Irma Vulto, John A Phillips,[...]. N Engl J Med 2007
776
18

Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita.
Andrew Yoon, Guang Peng, Yves Brandenburger, Ornella Zollo, Wei Xu, Eduardo Rego, Davide Ruggero. Science 2006
286
17

The telomere syndromes.
Mary Armanios, Elizabeth H Blackburn. Nat Rev Genet 2012
536
17

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
Hiroki Yamaguchi, Rodrigo T Calado, Hinh Ly, Sachiko Kajigaya, Gabriela M Baerlocher, Stephen J Chanock, Peter M Lansdorp, Neal S Young. N Engl J Med 2005
479
16

Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component.
Diane H Moon, Matthew Segal, Baris Boyraz, Eva Guinan, Inga Hofmann, Patrick Cahan, Albert K Tai, Suneet Agarwal. Nat Genet 2015
98
16

Loss of function of the tumor suppressor DKC1 perturbs p27 translation control and contributes to pituitary tumorigenesis.
Cristian Bellodi, Olya Krasnykh, Nikesha Haynes, Marily Theodoropoulou, Guang Peng, Lorenzo Montanaro, Davide Ruggero. Cancer Res 2010
99
15

A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.
Andrew S Venteicher, Eladio B Abreu, Zhaojing Meng, Kelly E McCann, Rebecca M Terns, Timothy D Veenstra, Michael P Terns, Steven E Artandi. Science 2009
336
15


Specific association of human telomerase activity with immortal cells and cancer.
N W Kim, M A Piatyszek, K R Prowse, C B Harley, M D West, P L Ho, G M Coviello, W E Wright, S L Weinrich, J W Shay. Science 1994
14

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
Tom J Vulliamy, Anna Marrone, Stuart W Knight, Amanda Walne, Philip J Mason, Inderjeet Dokal. Blood 2006
218
14

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
Yiran Guo, Melissa Kartawinata, Jiankang Li, Hilda A Pickett, Juliana Teo, Tatjana Kilo, Pasquale M Barbaro, Brendan Keating, Yulan Chen, Lifeng Tian,[...]. Blood 2014
61
22

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Beverley H Anderson, Paul R Kasher, Josephine Mayer, Marcin Szynkiewicz, Emma M Jenkinson, Sanjeev S Bhaskar, Jill E Urquhart, Sarah B Daly, Jonathan E Dickerson, James O'Sullivan,[...]. Nat Genet 2012
154
14

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Amanda J Walne, Tom Vulliamy, Michael Kirwan, Vincent Plagnol, Inderjeet Dokal. Am J Hum Genet 2013
130
14

Cancer in dyskeratosis congenita.
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg. Blood 2009
283
14

Adult-onset pulmonary fibrosis caused by mutations in telomerase.
Kalliopi D Tsakiri, Jennifer T Cronkhite, Phillip J Kuan, Chao Xing, Ganesh Raghu, Jonathan C Weissler, Randall L Rosenblatt, Jerry W Shay, Christine Kim Garcia. Proc Natl Acad Sci U S A 2007
543
14


Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.
Blanche P Alter, Gabriela M Baerlocher, Sharon A Savage, Stephen J Chanock, Babette B Weksler, Judith P Willner, June A Peters, Neelam Giri, Peter M Lansdorp. Blood 2007
231
13

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.
Tom Vulliamy, Anna Marrone, Richard Szydlo, Amanda Walne, Philip J Mason, Inderjeet Dokal. Nat Genet 2004
313
13

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
S W Knight, N S Heiss, T J Vulliamy, C M Aalfs, C McMahon, P Richmond, A Jones, R C Hennekam, A Poustka, P J Mason,[...]. Br J Haematol 1999
149
13

Diagnostic utility of telomere length testing in a hospital-based setting.
Jonathan K Alder, Vidya Sagar Hanumanthu, Margaret A Strong, Amy E DeZern, Susan E Stanley, Clifford M Takemoto, Ludmila Danilova, Carolyn D Applegate, Stephen G Bolton, David W Mohr,[...]. Proc Natl Acad Sci U S A 2018
67
19

rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells.
Karen Jack, Cristian Bellodi, Dori M Landry, Rachel O Niederer, Arturas Meskauskas, Sharmishtha Musalgaonkar, Noam Kopmar, Olya Krasnykh, Alison M Dean, Sunnie R Thompson,[...]. Mol Cell 2011
160
12


Chemical pulldown reveals dynamic pseudouridylation of the mammalian transcriptome.
Xiaoyu Li, Ping Zhu, Shiqing Ma, Jinghui Song, Jinyi Bai, Fangfang Sun, Chengqi Yi. Nat Chem Biol 2015
221
12

Danazol Treatment for Telomere Diseases.
Danielle M Townsley, Bogdan Dumitriu, Delong Liu, Angélique Biancotto, Barbara Weinstein, Christina Chen, Nathan Hardy, Andrew D Mihalek, Shilpa Lingala, Yun Ju Kim,[...]. N Engl J Med 2016
159
12

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Anna Marrone, Amanda Walne, Hannah Tamary, Yuka Masunari, Michael Kirwan, Richard Beswick, Tom Vulliamy, Inderjeet Dokal. Blood 2007
105
12

DKC1 overexpression associated with prostate cancer progression.
P Sieron, C Hader, J Hatina, R Engers, A Wlazlinski, M Müller, W A Schulz. Br J Cancer 2009
62
19

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.
Alberto Diaz de Leon, Jennifer T Cronkhite, Anna-Luise A Katzenstein, J David Godwin, Ganesh Raghu, Craig S Glazer, Randall L Rosenblatt, Carlos E Girod, Edward R Garrity, Chao Xing,[...]. PLoS One 2010
204
12

Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.
Amany I Gorgy, Naudia L Jonassaint, Susan E Stanley, Ayman Koteish, Amy E DeZern, Jolan E Walter, Sabrina C Sopha, James P Hamilton, Julie Hoover-Fong, Allen R Chen,[...]. Chest 2015
47
25



Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Hande Kocak, Bari J Ballew, Kamlesh Bisht, Rebecca Eggebeen, Belynda D Hicks, Shalabh Suman, Adri O'Neil, Neelam Giri, Ivan Maillard, Blanche P Alter,[...]. Genes Dev 2014
70
15

Telomeres shorten during ageing of human fibroblasts.
C B Harley, A B Futcher, C W Greider. Nature 1990
11

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
S W Knight, N S Heiss, T J Vulliamy, S Greschner, G Stavrides, G S Pai, G Lestringant, N Varma, P J Mason, I Dokal,[...]. Am J Hum Genet 1999
157
11

The gastrointestinal manifestations of telomere-mediated disease.
Naudia L Jonassaint, Nini Guo, Joseph A Califano, Elizabeth A Montgomery, Mary Armanios. Aging Cell 2013
54
20

A spectrum of severe familial liver disorders associate with telomerase mutations.
Rodrigo T Calado, Joshua A Regal, David E Kleiner, David S Schrump, Nathan R Peterson, Veronica Pons, Stephen J Chanock, Peter M Lansdorp, Neal S Young. PLoS One 2009
120
11

Tuning the ribosome: The influence of rRNA modification on eukaryotic ribosome biogenesis and function.
Katherine E Sloan, Ahmed S Warda, Sunny Sharma, Karl-Dieter Entian, Denis L J Lafontaine, Markus T Bohnsack. RNA Biol 2017
188
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.