Payal P Khincha, Ingrid M Wentzensen, Neelam Giri, Blanche P Alter, Sharon A Savage. Br J Haematol 2014
Times Cited: 58
Times Cited: 58
Times Cited
Times Co-cited
Similarity
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
55
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
37
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
34
Haematological recovery in dyskeratosis congenita patients treated with danazol.
Amin Islam, Shafquat Rafiq, Mike Kirwan, Amanda Walne, Jamie Cavenagh, Tom Vulliamy, Inderjeet Dokal. Br J Haematol 2013
Amin Islam, Shafquat Rafiq, Mike Kirwan, Amanda Walne, Jamie Cavenagh, Tom Vulliamy, Inderjeet Dokal. Br J Haematol 2013
56
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
29
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
29
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
27
Sex hormones, acting on the TERT gene, increase telomerase activity in human primary hematopoietic cells.
Rodrigo T Calado, William T Yewdell, Keisha L Wilkerson, Joshua A Regal, Sachiko Kajigaya, Constantine A Stratakis, Neal S Young. Blood 2009
Rodrigo T Calado, William T Yewdell, Keisha L Wilkerson, Joshua A Regal, Sachiko Kajigaya, Constantine A Stratakis, Neal S Young. Blood 2009
27
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
25
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.
Bari J Ballew, Sharon A Savage. Expert Rev Hematol 2013
Bari J Ballew, Sharon A Savage. Expert Rev Hematol 2013
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
Tom Vulliamy, Anna Marrone, Richard Szydlo, Amanda Walne, Philip J Mason, Inderjeet Dokal. Nat Genet 2004
24
Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.
A C Dietz, P J Orchard, K S Baker, R H Giller, S A Savage, B P Alter, J Tolar. Bone Marrow Transplant 2011
A C Dietz, P J Orchard, K S Baker, R H Giller, S A Savage, B P Alter, J Tolar. Bone Marrow Transplant 2011
24
Lung transplantation for pulmonary fibrosis in dyskeratosis congenita: Case Report and systematic literature review.
Neelam Giri, Rees Lee, Albert Faro, Charles B Huddleston, Frances V White, Blanche P Alter, Sharon A Savage. BMC Blood Disord 2011
Neelam Giri, Rees Lee, Albert Faro, Charles B Huddleston, Frances V White, Blanche P Alter, Sharon A Savage. BMC Blood Disord 2011
30
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
22
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
22
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
22
Survival after Hematopoietic Stem Cell Transplant in Patients with Dyskeratosis Congenita: Systematic Review of the Literature.
Pasquale Barbaro, Aditi Vedi. Biol Blood Marrow Transplant 2016
Pasquale Barbaro, Aditi Vedi. Biol Blood Marrow Transplant 2016
36
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
20
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
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
20
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
18
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
18
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
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
18
Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor.
Neelam Giri, Paul A Pitel, David Green, Blanche P Alter. Br J Haematol 2007
Neelam Giri, Paul A Pitel, David Green, Blanche P Alter. Br J Haematol 2007
40
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
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
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
18
Reduced intensity conditioning is effective for hematopoietic SCT in dyskeratosis congenita-related BM failure.
M Ayas, A Nassar, A A Hamidieh, M Kharfan-Dabaja, T B Othman, A Elhaddad, A Seraihy, F Hussain, K Alimoghaddam, S Ladeb,[...]. Bone Marrow Transplant 2013
M Ayas, A Nassar, A A Hamidieh, M Kharfan-Dabaja, T B Othman, A Elhaddad, A Seraihy, F Hussain, K Alimoghaddam, S Ladeb,[...]. Bone Marrow Transplant 2013
26
Bone marrow failure and the telomeropathies.
Danielle M Townsley, Bogdan Dumitriu, Neal S Young. Blood 2014
Danielle M Townsley, Bogdan Dumitriu, Neal S Young. Blood 2014
18
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
18
Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.
Payal P Khincha, Alison A Bertuch, Shahinaz M Gadalla, Neelam Giri, Blanche P Alter, Sharon A Savage. Blood Adv 2018
Payal P Khincha, Alison A Bertuch, Shahinaz M Gadalla, Neelam Giri, Blanche P Alter, Sharon A Savage. Blood Adv 2018
57
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
17
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA.
Patrick F Fogarty, Hiroki Yamaguchi, Adrian Wiestner, Gabriela M Baerlocher, Elaine Sloand, Weihua S Zeng, Elizabeth J Read, Peter M Lansdorp, Neal S Young. Lancet 2003
Patrick F Fogarty, Hiroki Yamaguchi, Adrian Wiestner, Gabriela M Baerlocher, Elaine Sloand, Weihua S Zeng, Elizabeth J Read, Peter M Lansdorp, Neal S Young. Lancet 2003
17
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
17
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
17
Reduced-intensity conditioning for alternative donor hematopoietic stem cell transplantation in patients with dyskeratosis congenita.
Nobuhiro Nishio, Yoshiyuki Takahashi, Haruhiko Ohashi, Sayoko Doisaki, Hideki Muramatsu, Asahito Hama, Akira Shimada, Hiroshi Yagasaki, Seiji Kojima. Pediatr Transplant 2011
Nobuhiro Nishio, Yoshiyuki Takahashi, Haruhiko Ohashi, Sayoko Doisaki, Hideki Muramatsu, Asahito Hama, Akira Shimada, Hiroshi Yagasaki, Seiji Kojima. Pediatr Transplant 2011
35
Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita.
L G Vuong, P G Hemmati, S Neuburger, T H Terwey, T Vulliamy, I Dokal, P le Coutre, B Dörken, R Arnold. Acta Haematol 2010
L G Vuong, P G Hemmati, S Neuburger, T H Terwey, T Vulliamy, I Dokal, P le Coutre, B Dörken, R Arnold. Acta Haematol 2010
43
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
17
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
17
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
17
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
17
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
17
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
17
Therapeutic effect of androgen therapy in a mouse model of aplastic anemia produced by short telomeres.
Christian Bär, Nicolas Huber, Fabian Beier, Maria A Blasco. Haematologica 2015
Christian Bär, Nicolas Huber, Fabian Beier, Maria A Blasco. Haematologica 2015
20
17
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
Telomere length measurement-caveats and a critical assessment of the available technologies and tools.
Geraldine Aubert, Mark Hills, Peter M Lansdorp. Mutat Res 2012
Geraldine Aubert, Mark Hills, Peter M Lansdorp. Mutat Res 2012
15
15
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
15
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
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
15
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.