A citation-based method for searching scientific literature

Bari J Ballew, Meredith Yeager, Kevin Jacobs, Neelam Giri, Joseph Boland, Laurie Burdett, Blanche P Alter, Sharon A Savage. Hum Genet 2013
Times Cited: 141







List of co-cited articles
1410 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Amanda J Walne, Tom Vulliamy, Michael Kirwan, Vincent Plagnol, Inderjeet Dokal. Am J Hum Genet 2013
131
56

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
49

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
50

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
32

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
26

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
24

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
24

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
22

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
22

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
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
158
21

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
21

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
20

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
20

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
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
681
19


Cancer in dyskeratosis congenita.
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg. Blood 2009
288
19

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
19

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
18

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
18

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
19


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
16

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
16

How shelterin protects mammalian telomeres.
Wilhelm Palm, Titia de Lange. Annu Rev Genet 2008
16

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
16

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
16

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
16

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
19

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
15

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
15

Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.
Blanche P Alter, Neelam Giri, Sharon A Savage, June A Peters, Jennifer T Loud, Lisa Leathwood, Ann G Carr, Mark H Greene, Philip S Rosenberg. Br J Haematol 2010
194
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
62
22

Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
Galina Glousker, Fabien Touzot, Patrick Revy, Yehuda Tzfati, Sharon A Savage. Br J Haematol 2015
58
24

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
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
13


The telomere syndromes.
Mary Armanios, Elizabeth H Blackburn. Nat Rev Genet 2012
547
13

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
G S Sasa, A Ribes-Zamora, N D Nelson, A A Bertuch. Clin Genet 2012
50
26

Mutations in the telomere capping complex in bone marrow failure and related syndromes.
Amanda J Walne, Tanya Bhagat, Michael Kirwan, Cyril Gitiaux, Isabelle Desguerre, Norma Leonard, Elena Nogales, Tom Vulliamy, Inderjeet S Dokal. Haematologica 2013
69
17

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.
Jonathan K Alder, Erin M Parry, Srinivasan Yegnasubramanian, Christa L Wagner, Lawrence M Lieblich, Robert Auerbach, Arleen D Auerbach, Sarah J Wheelan, Mary Armanios. Hum Mutat 2013
57
21

RTEL1: functions of a disease-associated helicase.
Jean-Baptiste Vannier, Grzegorz Sarek, Simon J Boulton. Trends Cell Biol 2014
68
17

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
A M Fedick, L Shi, C Jalas, N R Treff, J Ekstein, R Kornreich, L Edelmann, L Mehta, S A Savage. Clin Genet 2015
16
75

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
12


RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination.
Evert-Jan Uringa, Jillian L Youds, Kathleen Lisaingo, Peter M Lansdorp, Simon J Boulton. Nucleic Acids Res 2011
68
16

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
11

TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends.
Franklin L Zhong, Luis F Z Batista, Adam Freund, Matthew F Pech, Andrew S Venteicher, Steven E Artandi. Cell 2012
184
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.