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

Functional annotation of breast cancer risk loci: current progress and future directions

乳腺癌风险位点的功能注释:当前进展与未来方向

Romualdo Cardoso, Shirleny; Gillespie, Andrea; Haider, Syed; Fletcher, Olivia

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

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants

基因组不稳定是携带双等位基因ERCC6L2变异的骨髓衰竭患者转录缺陷的结果。

Tummala, Hemanth; Dokal, Arran D; Walne, Amanda; Ellison, Alicia; Cardoso, Shirleny; Amirthasigamanipillai, Saranha; Kirwan, Michael; Browne, Isobel; Sidhu, Jasmin K; Rajeeve, Vinothini; Rio-Machin, Ana; Seraihi, Ahad Al; Duncombe, Andrew S; Jenner, Matthew; Smith, Owen P; Enright, Helen; Norton, Alice; Aksu, Tekin; Özbek, Namık Yaşar; Pontikos, Nikolas; Cutillas, Pedro; Dokal, Inderjeet; Vulliamy, Tom

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease

扩大桡尺骨融合相关血液疾病的表型和遗传谱

Walne, Amanda; Tummala, Hemanth; Ellison, Alicia; Cardoso, Shirleny; Sidhu, Jasmin; Sciuccati, Gabriela; 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