A citation-based method for searching scientific literature

Amanda J Walne, Tom Vulliamy, Michael Kirwan, Vincent Plagnol, Inderjeet Dokal. Am J Hum Genet 2013
Times Cited: 131







List of co-cited articles
1291 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
Bari J Ballew, Meredith Yeager, Kevin Jacobs, Neelam Giri, Joseph Boland, Laurie Burdett, Blanche P Alter, Sharon A Savage. Hum Genet 2013
141
59

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Tangui Le Guen, Laurent Jullien, Fabien Touzot, Michael Schertzer, Laetitia Gaillard, Mylène Perderiset, Wassila Carpentier, Patrick Nitschke, Capucine Picard, Gérard Couillault,[...]. Hum Mol Genet 2013
100
58

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
Zhong Deng, Galina Glousker, Aliah Molczan, Alan J Fox, Noa Lamm, Jayaraju Dheekollu, Orr-El Weizman, Michael Schertzer, Zhuo Wang, Olga Vladimirova,[...]. Proc Natl Acad Sci U S A 2013
87
51

A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Bari J Ballew, Vijai Joseph, Saurav De, Grzegorz Sarek, Jean-Baptiste Vannier, Travis Stracker, Kasmintan A Schrader, Trudy N Small, Richard O'Reilly, Chris Manschreck,[...]. PLoS Genet 2013
79
49

RTEL1 dismantles T loops and counteracts telomeric G4-DNA to maintain telomere integrity.
Jean-Baptiste Vannier, Visnja Pavicic-Kaltenbrunner, Mark I R Petalcorin, Hao Ding, Simon J Boulton. Cell 2012
290
35

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
235
34

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
267
29

RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication.
Jean-Baptiste Vannier, Sumit Sandhu, Mark I R Petalcorin, Xiaoli Wu, Zinnatun Nabi, Hao Ding, Simon J Boulton. Science 2013
121
28

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
163
27

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
N S Heiss, S W Knight, T J Vulliamy, S M Klauck, S Wiemann, P J Mason, A Poustka, I Dokal. Nat Genet 1998
628
27

Regulation of murine telomere length by Rtel: an essential gene encoding a helicase-like protein.
Hao Ding, Mike Schertzer, Xiaoli Wu, Marina Gertsenstein, Sara Selig, Makoto Kammori, Reza Pourvali, Steven Poon, Irma Vulto, Elizabeth Chavez,[...]. Cell 2004
234
26

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
681
25

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
203
25

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
205
25

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
102
25

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
791
24

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
482
23

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
158
23


The telomere syndromes.
Mary Armanios, Elizabeth H Blackburn. Nat Rev Genet 2012
547
22

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
31


Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.
Caroline Kannengiesser, Raphael Borie, Christelle Ménard, Marion Réocreux, Patrick Nitschké, Steven Gazal, Hervé Mal, Camille Taillé, Jacques Cadranel, Hilario Nunes,[...]. Eur Respir J 2015
85
24

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
317
20

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
20

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
552
20

Rare variants in RTEL1 are associated with familial interstitial pneumonia.
Joy D Cogan, Jonathan A Kropski, Min Zhao, Daphne B Mitchell, Lynette Rives, Cheryl Markin, Errine T Garnett, Keri H Montgomery, Wendi R Mason, David F McKean,[...]. Am J Respir Crit Care Med 2015
105
20

CTC1 Mutations in a patient with dyskeratosis congenita.
Rachel B Keller, Katelyn E Gagne, G Naheed Usmani, George K Asdourian, David A Williams, Inga Hofmann, Suneet Agarwal. Pediatr Blood Cancer 2012
83
22

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
292
19

Cancer in dyskeratosis congenita.
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg. Blood 2009
288
18

Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication.
Agnel Sfeir, Settapong T Kosiyatrakul, Dirk Hockemeyer, Sheila L MacRae, Jan Karlseder, Carl L Schildkraut, Titia de Lange. Cell 2009
636
17

RTEL1 maintains genomic stability by suppressing homologous recombination.
Louise J Barber, Jillian L Youds, Jordan D Ward, Michael J McIlwraith, Nigel J O'Neil, Mark I R Petalcorin, Julie S Martin, Spencer J Collis, Sharon B Cantor, Melissa Auclair,[...]. Cell 2008
251
17

Dyskeratosis congenita.
Inderjeet Dokal. Hematology Am Soc Hematol Educ Program 2011
168
17

Mammalian telomeres end in a large duplex loop.
J D Griffith, L Comeau, S Rosenfield, R M Stansel, A Bianchi, H Moss, T de Lange. Cell 1999
16

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.
Blanche P Alter, Philip S Rosenberg, Neelam Giri, Gabriela M Baerlocher, Peter M Lansdorp, Sharon A Savage. Haematologica 2012
115
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
99
16

The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity.
Jayakrishnan Nandakumar, Caitlin F Bell, Ina Weidenfeld, Arthur J Zaug, Leslie A Leinwand, Thomas R Cech. Nature 2012
200
15

How shelterin protects mammalian telomeres.
Wilhelm Palm, Titia de Lange. Annu Rev Genet 2008
15

RTEL1 contributes to DNA replication and repair and telomere maintenance.
Evert-Jan Uringa, Kathleen Lisaingo, Hilda A Pickett, Julie Brind'Amour, Jan-Hendrik Rohde, Alex Zelensky, Jeroen Essers, Peter M Lansdorp. Mol Biol Cell 2012
74
20


TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
Grzegorz Sarek, Jean-Baptiste Vannier, Stephanie Panier, John H J Petrini, Simon J Boulton. Mol Cell 2015
89
16

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
234
14

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
206
14

RTEL1: functions of a disease-associated helicase.
Jean-Baptiste Vannier, Grzegorz Sarek, Simon J Boulton. Trends Cell Biol 2014
68
20

Telomere shortening in familial and sporadic pulmonary fibrosis.
Jennifer T Cronkhite, Chao Xing, Ganesh Raghu, Kelly M Chin, Fernando Torres, Randall L Rosenblatt, Christine Kim Garcia. Am J Respir Crit Care Med 2008
314
14

Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis.
Jonathan K Alder, Susan E Stanley, Christa L Wagner, Makenzie Hamilton, Vidya Sagar Hanumanthu, Mary Armanios. Chest 2015
88
15

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
62
22

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
Tom J Vulliamy, Amanda Walne, Aroon Baskaradas, Philip J Mason, Anna Marrone, Inderjeet Dokal. Blood Cells Mol Dis 2005
140
14

Telomeres shorten during ageing of human fibroblasts.
C B Harley, A B Futcher, C W Greider. Nature 1990
14

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


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.