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

Association of Y-chromosomal gr/gr deletions with testicular germ cell tumor: whole-genome analysis of 198,306 individuals

Y染色体gr/gr缺失与睾丸生殖细胞肿瘤的关联:198,306名个体的全基因组分析

Choi, Subin; Rocca, Maria Santa; Vinanzi, Cinzia; Pluta, John; Kuzbari, Zeid; Loveday, Chey; Allen, Sophie; Torr, Beth; Weathers, Benita; Anson-Cartwright, Lynn; Feldman, Darren R; Gietema, Jourik A; Gonzalez-Neira, Anna; Hamilton, Robert J; Krausz, Csilla; Moirano, Giovenale; Nead, Kevin T; Nsengimana, Jérémie; Poynter, Jenny N; Vaughn, David J; Kanetsky, Peter A; Nathanson, Katherine L; Ferlin, Alberto; Turnbull, Clare; Rowlands, Charlie F

Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists

验证来自多重变异效应检测的数据:CanVIG-UK 对 NHS 临床科学家的全国性调查

Allen, Sophie; Garrett, Alice; Rowlands, Charlie F; Durkie, Miranda; Burghel, George J; Robinson, Rachel; Callaway, Alison; Field, Joanne; Frugtniet, Bethan; Palmer-Smith, Sheila; Grant, Jonathan; Pagan, Judith; McDevitt, Trudi; Snape, Katie; Hanson, Helen; McVeigh, Terri; Adams, David J; Findlay, Gregory M; Villani, Rehan M; Spurdle, Amanda B; Turnbull, Clare

Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach

用于验证功能性检测的良性错义变异“真值集”的可用性:现状及系统方法

Rowlands, Charlie F; Allen, Sophie; Garrett, Alice; Durkie, Miranda; Burghel, George J; Robinson, Rachel; Callaway, Alison; Field, Joanne; Frugtniet, Bethan; Palmer-Smith, Sheila; Grant, Jonathan; Pagan, Judith; McDevitt, Trudi; Snape, Katie; Hanson, Helen; McVeigh, Terri; Turnbull, Clare

Meta-analysis of Germline Whole-exome Sequencing in 1435 Cases of Testicular Germ Cell Tumour to Evaluate Disruptive Mutations Under Dominant, Recessive, and X-linked Inheritance Models

对 1435 例睾丸生殖细胞肿瘤患者的生殖系全外显子组测序进行荟萃分析,以评估显性、隐性和 X 连锁遗传模型下的破坏性突变

Kuzbari, Zeid; Rowlands, Charlie F; Wade, Isaac; Garrett, Alice; Loveday, Chey; Choi, Subin; Torr, Beth; Litchfield, Kevin; Reid, Alison; Huddart, Robert; Broderick, Peter; Houlston, Richard S; Turnbull, Clare

APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites

APC I1307K 和临床管理:来自英国生物银行对阿什肯纳兹犹太人和非阿什肯纳兹犹太人结直肠癌和其他癌症风险关联分析的启示

Allen, Sophie; Rowlands, Charlie F; Latchford, Andrew; Turnbull, Clare; Valle, Laura

The RNA splicing factor PRPF8 is required for left-right organiser cilia function and determination of cardiac left-right asymmetry via regulation of Arl13b splicing.

RNA 剪接因子 PRPF8 是左右组织纤毛功能所必需的,它通过调节 Arl13b 剪接来决定心脏左右不对称性

Jiang Fangfei, Boylan Michael, Maxwell Dale W, Qureshi Wasay Mohiuddin Shaikh, Rowlands Charlie F, Tenin Gennadiy, Mitchell Karen, Stephen Louise A, Vasconcelos Elton J R, Wang Dapeng, Chen Tong, Zha Junzhe, Liu Jingshu, Althali Nouf, Leordean Dragos V, Gallagher Meurig T, Basu Basudha, Szymanska Katarzyna, Veeraghanta Advait, Keavney Bernard, Humphries Martin J, Ellingford Jamie, Smith David, Johnson Colin A, O'Keefe Raymond T, Roy Sudipto, Hentges Kathryn E

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification

PS4似然比计算器:变异分类中病例对照数据证据权重的灵活分配

Rowlands, Charlie F; Garrett, Alice; Allen, Sophie; Durkie, Miranda; Burghel, George J; Robinson, Rachel; Callaway, Alison; Field, Joanne; Frugtniet, Bethan; Palmer-Smith, Sheila; Grant, Jonathan; Pagan, Judith; McDevitt, Trudi; McVeigh, Terri P; Hanson, Helen; Whiffin, Nicola; Jones, Michael; Turnbull, Clare

Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.

全基因组关联分析确定了 9p21 处散发性前庭神经鞘瘤的易感基因位点

Sadler Katherine V, Bowes John, Rowlands Charlie F, Perez-Becerril Cristina, van der Meer C Mwee, King Andrew T, Rutherford Scott A, Pathmanaban Omar N, Hammerbeck-Ward Charlotte, Lloyd Simon K W, Freeman Simon R, Williams Ricky, Hannan Cathal John, Lewis Daniel, Eyre Steve, Evans D Gareth, Smith Miriam J

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

MRSD:一种用于评估RNA测序在孟德尔疾病中剪接错误研究中适用性的定量方法

Rowlands, Charlie F; Taylor, Algy; Rice, Gillian; Whiffin, Nicola; Hall, Hildegard Nikki; Newman, William G; Black, Graeme C M; O'Keefe, Raymond T; Hubbard, Simon; Douglas, Andrew G L; Baralle, Diana; Briggs, Tracy A; Ellingford, Jamie M

Re-evaluation of missense variant classifications in NF2

NF2错义变异分类的重新评估

Sadler, Katherine V; Rowlands, Charlie F; Smith, Philip T; Hartley, Claire L; Bowers, Naomi L; Roberts, Nicola Y; Harris, Jade L; Wallace, Andrew J; Evans, D Gareth; Messiaen, Ludwine M; Smith, Miriam J