Publications by authors named "Laura Collopy"

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Selective Elimination of Osteosarcoma Cell Lines with Short Telomeres by Ataxia Telangiectasia and Rad3-Related Inhibitors.
Tomas Goncalves, Georgia Zoumpoulidou, Carlos Alvarez-Mendoza, Caterina Mancusi, Laura C Collopy

ACS Pharmacol Transl Sci· December 2020

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Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
Hemanth Tummala, Laura C Collopy, Amanda J Walne, Alicia Ellison, Shirleny Cardoso

Blood· September 2018

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LARP7 family proteins have conserved function in telomerase assembly.
Laura C Collopy, Tracy L Ware, Tomas Goncalves, Sunnvør Í Kongsstovu, Qian Yang

Nat Commun· February 2018

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Fission yeast Ccq1 is a modulator of telomerase activity.
Christine A Armstrong, Vera Moiseeva, Laura C Collopy, Siân R Pearson, Tomalika R Ullah

Nucleic Acids Res· January 2018

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The telomere bouquet facilitates meiotic prophase progression and exit in fission yeast.
Vera Moiseeva, Hanna Amelina, Laura C Collopy, Christine A Armstrong, Siân R Pearson

Cell Discov· November 2017

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DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype.
Rodolphe Dard, Bérénice Herve, Thierry Leblanc, Jean-Pierre de Villartay, Laura Collopy

Pediatr Allergy Immunol· May 2017

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Sequential and counter-selectable cassettes for fission yeast.
Hanna Amelina, Vera Moiseeva, Laura Catharine Collopy, Siân Rosanna Pearson, Christine Anne Armstrong

BMC Biotechnol· November 2016

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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Amanda J Walne, Laura Collopy, Shirleny Cardoso, Alicia Ellison, Vincent Plagnol

Haematologica· October 2016

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DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Hemanth Tummala, Amanda J Walne, Mike Williams, Nicholas Bockett, Laura Collopy

Am J Hum Genet· July 2016

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Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Laura C Collopy, Amanda J Walne, Shirleny Cardoso, Josu de la Fuente, Mahfuzah Mohamed

Blood· July 2015

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Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
Hemanth Tummala, Amanda Walne, Laura Collopy, Shirleny Cardoso, Josu de la Fuente

J Clin Invest· May 2015

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Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4.
Laura C Collopy, Amanda J Walne, Tom J Vulliamy, Inderjeet S Dokal

Haematologica· July 2014

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