Marena R Niewisch, Sharon A Savage. Expert Rev Hematol 2019
Times Cited: 32
Times Cited: 32
Times Cited
Times Co-cited
Similarity
A telomerase component is defective in the human disease dyskeratosis congenita.
J R Mitchell, E Wood, K Collins. Nature 1999
J R Mitchell, E Wood, K Collins. Nature 1999
28
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
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
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
N S Heiss, S W Knight, T J Vulliamy, S M Klauck, S Wiemann, P J Mason, A Poustka, I Dokal. Nat Genet 1998
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
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
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
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
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
Amanda J Walne, Tom Vulliamy, Michael Kirwan, Vincent Plagnol, Inderjeet Dokal. Am J Hum Genet 2013
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
Franklin Zhong, Sharon A Savage, Marina Shkreli, Neelam Giri, Lea Jessop, Timothy Myers, Renee Chen, Blanche P Alter, Steven E Artandi. Genes Dev 2011
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
Tom Vulliamy, Richard Beswick, Michael Kirwan, Anna Marrone, Martin Digweed, Amanda Walne, Inderjeet Dokal. Proc Natl Acad Sci U S A 2008
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
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
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
Diane H Moon, Matthew Segal, Baris Boyraz, Eva Guinan, Inga Hofmann, Patrick Cahan, Albert K Tai, Suneet Agarwal. Nat Genet 2015
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
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg. Haematologica 2018
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
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
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
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
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
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
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
Bari J Ballew, Meredith Yeager, Kevin Jacobs, Neelam Giri, Joseph Boland, Laurie Burdett, Blanche P Alter, Sharon A Savage. Hum Genet 2013
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
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
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
Baris Boyraz, Diane H Moon, Matthew Segal, Maud Z Muosieyiri, Asli Aykanat, Albert K Tai, Patrick Cahan, Suneet Agarwal. J Clin Invest 2016
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
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
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
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
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
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
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
T Vulliamy, A Marrone, F Goldman, A Dearlove, M Bessler, P J Mason, I Dokal. Nature 2001
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
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
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
Galina Glousker, Fabien Touzot, Patrick Revy, Yehuda Tzfati, Sharon A Savage. Br J Haematol 2015
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
Henrik Mueller, Anaïs Lopez, Philipp Tropberger, Steffen Wildum, Josephine Schmaler, Lykke Pedersen, Xingchun Han, Yongguang Wang, Søren Ottosen, Song Yang,[...]. Hepatology 2019
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
Wilson Chun Fok, Siddharth Shukla, Alexandre Teixeira Vessoni, Kirsten Ann Brenner, Roy Parker, Christopher M Sturgeon, Luis Francisco Zirnberger Batista. Blood 2019
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
Chi-Kang Tseng, Hui-Fang Wang, Allison M Burns, Morgan R Schroeder, Martina Gaspari, Peter Baumann. Cell Rep 2015
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
M A Blasco, H W Lee, M P Hande, E Samper, P M Lansdorp, R A DePinho, C W Greider. Cell 1997
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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
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
15
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
Amanda J Walne, Tom Vulliamy, Richard Beswick, Michael Kirwan, Inderjeet Dokal. Blood 2008
Amanda J Walne, Tom Vulliamy, Richard Beswick, Michael Kirwan, Inderjeet Dokal. Blood 2008
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
Chunyi Hu, Rekha Rai, Chenhui Huang, Cayla Broton, Juanjuan Long, Ying Xu, Jing Xue, Ming Lei, Sandy Chang, Yong Chen. Cell Res 2017
15
Clinical utility gene card for: Dyskeratosis congenita - update 2015.
Inderjeet Dokal, Tom Vulliamy, Philip Mason, Monica Bessler. Eur J Hum Genet 2015
Inderjeet Dokal, Tom Vulliamy, Philip Mason, Monica Bessler. Eur J Hum Genet 2015
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
Jonathan K Alder, Susan E Stanley, Christa L Wagner, Makenzie Hamilton, Vidya Sagar Hanumanthu, Mary Armanios. Chest 2015
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
Tom Vulliamy, Anna Marrone, Richard Szydlo, Amanda Walne, Philip J Mason, Inderjeet Dokal. Nat Genet 2004
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
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
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
Payal P Khincha, Ingrid M Wentzensen, Neelam Giri, Blanche P Alter, Sharon A Savage. Br J Haematol 2014
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
Hiroyuki Takai, Emma Jenkinson, Shaheen Kabir, Riyana Babul-Hirji, Nasrin Najm-Tehrani, David A Chitayat, Yanick J Crow, Titia de Lange. Genes Dev 2016
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
Sharon A Savage, Neelam Giri, Gabriela M Baerlocher, Nick Orr, Peter M Lansdorp, Blanche P Alter. Am J Hum Genet 2008
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
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
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
Yiran Guo, Melissa Kartawinata, Jiankang Li, Hilda A Pickett, Juliana Teo, Tatjana Kilo, Pasquale M Barbaro, Brendan Keating, Yulan Chen, Lifeng Tian,[...]. Blood 2014
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
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
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
Rachel B Keller, Katelyn E Gagne, G Naheed Usmani, George K Asdourian, David A Williams, Inga Hofmann, Suneet Agarwal. Pediatr Blood Cancer 2012
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
Adam Freund, Franklin L Zhong, Andrew S Venteicher, Zhaojing Meng, Timothy D Veenstra, Judith Frydman, Steven E Artandi. Cell 2014
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
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
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
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
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
Kazimierz T Tycowski, Mei-Di Shu, Abiodun Kukoyi, Joan A Steitz. Mol Cell 2009
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
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
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
Anna Marrone, Amanda Walne, Hannah Tamary, Yuka Masunari, Michael Kirwan, Richard Beswick, Tom Vulliamy, Inderjeet Dokal. Blood 2007
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.