Marena R Niewisch, Sharon A Savage. Expert Rev Hematol 2019
Times Cited: 47
Times Cited: 47
Times Cited
Times Co-cited
Similarity
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
23
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
Blanche P Alter, Philip S Rosenberg, Neelam Giri, Gabriela M Baerlocher, Peter M Lansdorp, Sharon A Savage. Haematologica 2012
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
N S Heiss, S W Knight, T J Vulliamy, S M Klauck, S Wiemann, P J Mason, A Poustka, I Dokal. Nat Genet 1998
19
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
19
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
19
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
21
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
19
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
14
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
14
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
14
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
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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
14
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
12
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
12
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
12
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
12
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
31
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
12
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
16
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
12
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
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
12
Cancer in dyskeratosis congenita.
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg. Blood 2009
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg. Blood 2009
12
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline,[...]. Blood 2018
Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline,[...]. Blood 2018
12
Pathophysiology and management of inherited bone marrow failure syndromes.
Akiko Shimamura, Blanche P Alter. Blood Rev 2010
Akiko Shimamura, Blanche P Alter. Blood Rev 2010
12
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
12
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
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
12
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
12
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
10
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
10
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
10
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
10
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
10
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
10
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
10
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
10
The genetics and clinical manifestations of telomere biology disorders.
Sharon A Savage, Alison A Bertuch. Genet Med 2010
Sharon A Savage, Alison A Bertuch. Genet Med 2010
10
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
10
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Marjolijn C J Jongmans, Eugene T P Verwiel, Yvonne Heijdra, Tom Vulliamy, Eveline J Kamping, Jayne Y Hehir-Kwa, Ernie M H F Bongers, Rolph Pfundt, Liesbeth van Emst, Frank N van Leeuwen,[...]. Am J Hum Genet 2012
Marjolijn C J Jongmans, Eugene T P Verwiel, Yvonne Heijdra, Tom Vulliamy, Eveline J Kamping, Jayne Y Hehir-Kwa, Ernie M H F Bongers, Rolph Pfundt, Liesbeth van Emst, Frank N van Leeuwen,[...]. Am J Hum Genet 2012
10
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
10
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Graeme R B Boocock, Jodi A Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R Durie, Johanna M Rommens. Nat Genet 2003
Graeme R B Boocock, Jodi A Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R Durie, Johanna M Rommens. Nat Genet 2003
10
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
11
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.
Shahinaz M Gadalla, Carmem Sales-Bonfim, Jeanette Carreras, Blanche P Alter, Joseph H Antin, Mouhab Ayas, Prasad Bodhi, Jeffrey Davis, Stella M Davies, Eric Deconinck,[...]. Biol Blood Marrow Transplant 2013
Shahinaz M Gadalla, Carmem Sales-Bonfim, Jeanette Carreras, Blanche P Alter, Joseph H Antin, Mouhab Ayas, Prasad Bodhi, Jeffrey Davis, Stella M Davies, Eric Deconinck,[...]. Biol Blood Marrow Transplant 2013
10
Cancer spectrum and outcomes in the Mendelian short telomere syndromes.
Kristen E Schratz, Lisa Haley, Sonye K Danoff, Amanda L Blackford, Amy E DeZern, Christopher D Gocke, Amy S Duffield, Mary Armanios. Blood 2020
Kristen E Schratz, Lisa Haley, Sonye K Danoff, Amanda L Blackford, Amy E DeZern, Christopher D Gocke, Amy S Duffield, Mary Armanios. Blood 2020
13
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
8
Pathogenic TERT promoter variants in telomere diseases.
Fernanda Gutierrez-Rodrigues, Flávia S Donaires, André Pinto, Alana Vicente, Laura W Dillon, Diego V Clé, Barbara A Santana, Mehdi Pirooznia, Maria Del Pilar F Ibanez, Danielle M Townsley,[...]. Genet Med 2019
Fernanda Gutierrez-Rodrigues, Flávia S Donaires, André Pinto, Alana Vicente, Laura W Dillon, Diego V Clé, Barbara A Santana, Mehdi Pirooznia, Maria Del Pilar F Ibanez, Danielle M Townsley,[...]. Genet Med 2019
22
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.