日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes

遗传性骨髓衰竭亚型的全血转录组全基因组分析

Walne, Amanda J; Vulliamy, Tom; Bewicke-Copley, Findlay; Wang, Jun; Alnajar, Jenna; Bridger, Maria G; Ma, Bernard; Tummala, Hemanth; Dokal, Inderjeet

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

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

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

骨髓增生异常综合征和肝病扩大了RTEL1相关端粒病的谱系。

Cardoso, Shirleny R; Ellison, Alicia C M; Walne, Amanda J; Cassiman, David; Raghavan, Manoj; Kishore, Bhuvan; Ancliff, Philip; Rodríguez-Vigil, Carmen; Dobbels, Bieke; Rio-Machin, Ana; Al Seraihi, Ahad F H; Pontikos, Nikolas; Tummala, Hemanth; Vulliamy, Tom; Dokal, Inderjeet

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

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

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

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

Long tails, short telomeres: Dyskeratosis congenita

长尾,短端粒:先天性角化不良

Tummala, Hemanth; Walne, Amanda J

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。

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

Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

RTEL1 基因突变导致严重先天性角化不良

Walne, Amanda J; Vulliamy, Tom; Kirwan, Michael; Plagnol, Vincent; Dokal, Inderjeet

Mutations in the telomere capping complex in bone marrow failure and related syndromes

骨髓衰竭及相关综合征中端粒加帽复合物的突变

Walne, Amanda J; Bhagat, Tanya; Kirwan, Michael; Gitiaux, Cyril; Desguerre, Isabelle; Leonard, Norma; Nogales, Elena; Vulliamy, Tom; Dokal, Inderjeet S

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

外显子组测序鉴定出MPL是家族性再生障碍性贫血的致病基因

Walne, Amanda J; Dokal, Arran; Plagnol, Vincent; Beswick, Richard; Kirwan, Michael; de la Fuente, Josu; Vulliamy, Tom; Dokal, Inderjeet