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

The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland

英国和爱尔兰遗传性血色素沉着症风险和诊断概况

Kerr, Shona M; Fletcher, Benjamin S; Tzoneva, Gannie; Shuldiner, Alan R; Gilbert, Edmund; Wilson, James F

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.

对来自奥克尼和设得兰群岛创始人群的 4,198 名苏格兰参与者进行了可操作的基因变异分析,并实施了结果反馈机制

Kerr Shona M, Klaric Lucija, Muckian Marisa D, Johnston Kiera, Drake Camilla, Halachev Mihail, Cowan Emma, Snadden Lesley, Dean John, Zheng Sean L, Thami Prisca K, Ware James S, Tzoneva Gannie, Shuldiner Alan R, Miedzybrodzka Zosia, Wilson James F

Regionally enriched rare deleterious exonic variants in the UK and Ireland

英国和爱尔兰区域性富集的罕见有害外显子变异

Halachev, Mihail; Gountouna, Viktoria-Eleni; Meynert, Alison; Tzoneva, Gannie; Shuldiner, Alan R; Semple, Colin A; Wilson, James F

NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke

NOTCH3 p.Arg1231Cys 突变在南亚人群中显著富集,且与中风相关。

Rodriguez-Flores, Juan Lorenzo; Khalid, Shareef; Parikshak, Neelroop; Rasheed, Asif; Ye, Bin; Kapoor, Manav; Backman, Joshua; Sepehrband, Farshid; Gioia, Silvio Alessandro Di; Gelfman, Sahar; De, Tanima; Banerjee, Nilanjana; Sharma, Deepika; Martinez, Hector; Castaneda, Sofia; D'Ambrosio, David; Zhang, Xingmin A; Xun, Pengcheng; Tsai, Ellen; Tsai, I-Chun; Khan, Maleeha Zaman; Jahanzaib, Muhammad; Mian, Muhammad Rehan; Liaqat, Muhammad Bilal; Mahmood, Khalid; Salam, Tanvir Us; Hussain, Muhammad; Iqbal, Javed; Aslam, Faizan; Cantor, Michael N; Tzoneva, Gannie; Overton, John; Marchini, Jonathan; Reid, Jeffrey G; Baras, Aris; Verweij, Niek; Lotta, Luca A; Coppola, Giovanni; Karalis, Katia; Economides, Aris; Fazio, Sergio; Liedtke, Wolfgang; Danesh, John; Kamal, Ayeesha; Frossard, Philippe; Coleman, Thomas; Shuldiner, Alan R; Saleheen, Danish

Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.

在苏格兰的奥克尼群岛和设得兰群岛,两个创始变异体占致病性 BRCA 等位基因的 90% 以上

Kerr Shona M, Klaric Lucija, Muckian Marisa D, Cowan Emma, Snadden Lesley, Tzoneva Gannie, Shuldiner Alan R, Miedzybrodzka Zosia, Wilson James F

Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians

临床病例研究与人群队列研究相结合:在奥克尼群岛居民中发现 BRCA1 致病性创始变异

Kerr, Shona M; Cowan, Emma; Klaric, Lucija; Bell, Christine; O'Sullivan, Dawn; Buchanan, David; Grzymski, Joseph J; van Hout, Cristopher V; Tzoneva, Gannie; Shuldiner, Alan R; Wilson, James F; Miedzybrodzka, Zosia

Structure and Mechanisms of NT5C2 Mutations Driving Thiopurine Resistance in Relapsed Lymphoblastic Leukemia

NT5C2突变驱动复发性淋巴母细胞白血病硫嘌呤耐药的结构和机制

Dieck, Chelsea L; Tzoneva, Gannie; Forouhar, Farhad; Carpenter, Zachary; Ambesi-Impiombato, Alberto; Sánchez-Martín, Marta; Kirschner-Schwabe, Renate; Lew, Scott; Seetharaman, Jayaraman; Tong, Liang; Ferrando, Adolfo A