Collopy Laura相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes

端粒蛋白TPP1的纯合OB折叠变异与先天性角化不良样表型相关

影响因子:23.1

doi:10.1182/blood-2018-03-837799

Tummala, Hemanth; Collopy, Laura C; Walne, Amanda J; Ellison, Alicia; Cardoso, Shirleny; Aksu, Tekin; Yarali, Nese; Aslan, Deniz; Fikret Akata, Rüştü; Teo, Juliana; Songyang, Zhou; Pontikos, Nikolas; Fitzgibbon, Jude; Tomita, Kazunori; Vulliamy, Tom; Dokal, Inderjeet

发表日期：2018

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The telomere bouquet facilitates meiotic prophase progression and exit in fission yeast

端粒束促进裂殖酵母减数分裂前期进程和结束。

期刊:Cell Discovery

影响因子:12.5

doi:10.1038/celldisc.2017.41

Moiseeva, Vera; Amelina, Hanna; Collopy, Laura C; Armstrong, Christine A; Pearson, Siân R; Tomita, Kazunori

发表日期：2017

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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

四种遗传综合征与先天性角化不良症有明显的重叠，这给临床诊断带来了困难

期刊:Haematologica

影响因子:7.9

doi:10.3324/haematol.2016.147769

Walne Amanda J, Collopy Laura, Cardoso Shirleny, Ellison Alicia, Plagnol Vincent, Albayrak Canan, Albayrak Davut, Kilic Sara Sebnem, PatÄ±roglu Turkan, Akar Haluk, Godfrey Keith, Carter Tina, Marafie Makia, Vora Ajay, Sundin Mikael, Vulliamy Thomas, Tummala Hemanth, Dokal Inderjeet

发表日期：2016

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Sequential and counter-selectable cassettes for fission yeast

裂殖酵母的顺序和反向选择盒式基因座

期刊:BMC Biotechnology

影响因子:3.4

doi:10.1186/s12896-016-0307-4

Amelina, Hanna; Moiseeva, Vera; Collopy, Laura Catharine; Pearson, Siân Rosanna; Armstrong, Christine Anne; Tomita, Kazunori

发表日期：2016

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Triallelic and epigenetic-like inheritance in human disorders of telomerase.

人类端粒酶疾病中的三等位基因和表观遗传样遗传

影响因子:23.1

doi:10.1182/blood-2015-03-633388

Collopy Laura C, Walne Amanda J, Cardoso Shirleny, de la Fuente Josu, Mohamed Mahfuzah, Toriello Helga, Tamary Hannah, Ling Adam J Y V, Lloyd Timothy, Kassam Rebecca, Tummala Hemanth, Vulliamy Thomas J, Dokal Inderjeet

发表日期：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

对再生障碍性贫血患者的52个骨髓衰竭基因进行靶向重测序，结果显示仅在SLX4基因中存在意义不明的新变异频率增加。

期刊:Haematologica

影响因子:7.9

doi:10.3324/haematol.2014.105320

Collopy, Laura C; Walne, Amanda J; Vulliamy, Tom J; Dokal, Inderjeet S

发表日期：2014

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