A citation-based method for searching scientific literature

Hemanth Tummala, Amanda Walne, Laura Collopy, Shirleny Cardoso, Josu de la Fuente, Sarah Lawson, James Powell, Nicola Cooper, Alison Foster, Shehla Mohammed, Vincent Plagnol, Thomas Vulliamy, Inderjeet Dokal. J Clin Invest 2015
Times Cited: 102



T Vulliamy, A Marrone, F Goldman, A Dearlove, M Bessler, P J Mason, I Dokal. Nature 2001
Times Cited: 681




List of shared articles



Times cited

Molecular mechanisms of telomere biology disorders.
Sherilyn Grill, Jayakrishnan Nandakumar. J Biol Chem 2021
3

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.
Sofie Bergstrand, Stefanie Böhm, Helena Malmgren, Anna Norberg, Mikael Sundin, Ann Nordgren, Marianne Farnebo. Cell Death Dis 2020
2

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
15


Dyskeratosis congenita: a literature review.
Manahel Mahmood AlSabbagh. J Dtsch Dermatol Ges 2020
4

Dyskeratosis congenita: ein Literaturüberblick.
Manahel Mahmood AlSabbagh. J Dtsch Dermatol Ges 2020
1

Molecular mechanisms of telomere biology disorders.
Sherilyn Grill, Jayakrishnan Nandakumar. J Biol Chem 2020
4

TOE1 acts as a 3' exonuclease for telomerase RNA and regulates telomere maintenance.
Tingting Deng, Yan Huang, Kai Weng, Song Lin, Yujing Li, Guang Shi, Yali Chen, Junjiu Huang, Dan Liu, Wenbin Ma,[...]. Nucleic Acids Res 2019
19

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

Disruption of Telomerase RNA Maturation Kinetics Precipitates Disease.
Caitlin M Roake, Lu Chen, Ananya L Chakravarthy, James E Ferrell, Grazia D Raffa, Steven E Artandi. Mol Cell 2019
20


Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.
Anna Norberg, Anna Rosén, Klas Raaschou-Jensen, Lars Kjeldsen, Jukka S Moilanen, Ylva Paulsson-Karlsson, Panagiotis Baliakas, Olli Lohi, Aymen Ahmed, Astrid O Kittang,[...]. Eur J Hum Genet 2018
8

A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family.
Yingqi Shao, Sizhou Feng, Jinbo Huang, Jiali Huo, Yahong You, Yizhou Zheng. BMC Med Genet 2018
3


The wide-ranging clinical implications of the short telomere syndromes.
P M Barbaro, D S Ziegler, R R Reddel. Intern Med J 2016
16


Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.
Larisa Pereboeva, Meredith Hubbard, Frederick D Goldman, Erik R Westin. PLoS One 2016
5

Inhibition of telomerase RNA decay rescues telomerase deficiency caused by dyskerin or PARN defects.
Siddharth Shukla, Jens C Schmidt, Katherine C Goldfarb, Thomas R Cech, Roy Parker. Nat Struct Mol Biol 2016
61

Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes.
Siddharth Shukla, Roy Parker. Trends Mol Med 2016
40

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
33

mRNA deadenylation and telomere disease.
Philip J Mason, Monica Bessler. J Clin Invest 2015
8

The short and long telomere syndromes: paired paradigms for molecular medicine.
Susan E Stanley, Mary Armanios. Curr Opin Genet Dev 2015
67

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

Understanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed Lungs.
Coline H M van Moorsel, Thijs W Hoffman, Aernoud A van Batenburg, Dymph Klay, Joanne J van der Vis, Jan C Grutters. Biomed Res Int 2015
10

Molecular basis of telomere dysfunction in human genetic diseases.
Grzegorz Sarek, Paulina Marzec, Pol Margalef, Simon J Boulton. Nat Struct Mol Biol 2015
52