A citation-based method for searching scientific literature

Marena R Niewisch, Sharon A Savage. Expert Rev Hematol 2019
Times Cited: 32







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



Times Cited
  Times     Co-cited
Similarity



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
104
28


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
631
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
204
25

ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation.
Dustin L Gable, Valeriya Gaysinskaya, Christine C Atik, C Conover Talbot, Byunghak Kang, Susan E Stanley, Elizabeth W Pugh, Nuria Amat-Codina, Kara M Schenk, Murat O Arcasoy,[...]. Genes Dev 2019
32
25

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Amanda J Walne, Tom Vulliamy, Michael Kirwan, Vincent Plagnol, Inderjeet Dokal. Am J Hum Genet 2013
132
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
164
21

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
21

The telomere syndromes.
Mary Armanios, Elizabeth H Blackburn. Nat Rev Genet 2012
556
21

Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells.
Neha Nagpal, Jianing Wang, Jing Zeng, Emily Lo, Diane H Moon, Kevin Luk, Roman O Braun, Lauri M Burroughs, Sioban B Keel, Christopher Reilly,[...]. Cell Stem Cell 2020
16
43

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
21

Dyskeratosis congenita.
Inderjeet Dokal. Hematology Am Soc Hematol Educ Program 2011
169
21

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg. Haematologica 2018
94
21

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
74
18

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
295
18

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
99
18

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
142
18

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
238
18

Posttranscriptional manipulation of TERC reverses molecular hallmarks of telomere disease.
Baris Boyraz, Diane H Moon, Matthew Segal, Maud Z Muosieyiri, Asli Aykanat, Albert K Tai, Patrick Cahan, Suneet Agarwal. J Clin Invest 2016
34
18

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
15

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
72
15

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
160
15

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
15

Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.
Luis F Z Batista, Matthew F Pech, Franklin L Zhong, Ha Nam Nguyen, Kathleen T Xie, Arthur J Zaug, Sharon M Crary, Jinkuk Choi, Vittorio Sebastiano, Athena Cherry,[...]. Nature 2011
176
15

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
15

PAPD5/7 Are Host Factors That Are Required for Hepatitis B Virus RNA Stabilization.
Henrik Mueller, Anaïs Lopez, Philipp Tropberger, Steffen Wildum, Josephine Schmaler, Lykke Pedersen, Xingchun Han, Yongguang Wang, Søren Ottosen, Song Yang,[...]. Hepatology 2019
27
18

Posttranscriptional modulation of TERC by PAPD5 inhibition rescues hematopoietic development in dyskeratosis congenita.
Wilson Chun Fok, Siddharth Shukla, Alexandre Teixeira Vessoni, Kirsten Ann Brenner, Roy Parker, Christopher M Sturgeon, Luis Francisco Zirnberger Batista. Blood 2019
17
29

Human Telomerase RNA Processing and Quality Control.
Chi-Kang Tseng, Hui-Fang Wang, Allison M Burns, Morgan R Schroeder, Martina Gaspari, Peter Baumann. Cell Rep 2015
78
15

Telomere shortening and tumor formation by mouse cells lacking telomerase RNA.
M A Blasco, H W Lee, M P Hande, E Samper, P M Lansdorp, R A DePinho, C W Greider. Cell 1997
15

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
166
15


Structural and functional analyses of the mammalian TIN2-TPP1-TRF2 telomeric complex.
Chunyi Hu, Rekha Rai, Chenhui Huang, Cayla Broton, Juanjuan Long, Ying Xu, Jing Xue, Ming Lei, Sandy Chang, Yong Chen. Cell Res 2017
39
15

Clinical utility gene card for: Dyskeratosis congenita - update 2015.
Inderjeet Dokal, Tom Vulliamy, Philip Mason, Monica Bessler. Eur J Hum Genet 2015
37
15

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
90
15

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
321
12

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
12

Response to androgen therapy in patients with dyskeratosis congenita.
Payal P Khincha, Ingrid M Wentzensen, Neelam Giri, Blanche P Alter, Sharon A Savage. Br J Haematol 2014
55
12

A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus.
Hiroyuki Takai, Emma Jenkinson, Shaheen Kabir, Riyana Babul-Hirji, Nasrin Najm-Tehrani, David A Chitayat, Yanick J Crow, Titia de Lange. Genes Dev 2016
45
12

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
269
12

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.
Amos J Simon, Atar Lev, Yong Zhang, Batia Weiss, Anna Rylova, Eran Eyal, Nitzan Kol, Ortal Barel, Keren Cesarkas, Michalle Soudack,[...]. J Exp Med 2016
54
12

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
63
12

Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Laura C Collopy, Amanda J Walne, Shirleny Cardoso, Josu de la Fuente, Mahfuzah Mohamed, Helga Toriello, Hannah Tamary, Adam J Y V Ling, Timothy Lloyd, Rebecca Kassam,[...]. Blood 2015
27
14

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
84
12

Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1.
Adam Freund, Franklin L Zhong, Andrew S Venteicher, Zhaojing Meng, Timothy D Veenstra, Judith Frydman, Steven E Artandi. Cell 2014
73
12

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
340
12

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
150
12

A conserved WD40 protein binds the Cajal body localization signal of scaRNP particles.
Kazimierz T Tycowski, Mei-Di Shu, Abiodun Kukoyi, Joan A Steitz. Mol Cell 2009
143
12

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
88
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


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.