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

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

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

The diagnostic accuracy of ultrasound and genomic tests for the diagnosis of autosomal-dominant polycystic kidney disease: a systematic mapping review

超声和基因组检测在常染色体显性多囊肾病诊断中的诊断准确性:一项系统性综述

Harnan, Sue; Gittus, Matthew; Falzon, Louise; Durkie, Miranda; Mandrik, Olena; Ong, Albert C; Fotheringham, James

MLH1 c.27G>A (p.Arg9=) is a synonymous likely/pathogenic variant underlying variably mosaic constitutional MLH1 methylation in Lynch syndrome

MLH1 c.27G>A (p.Arg9=) 是一个同义的可能致病性变异,是林奇综合征中 MLH1 基因甲基化呈不同程度嵌合状态的根本原因。

Alvarez, Rocio; Climent-Cantó, Paula; Shin, GiWon; Aguirre, Francesca Paola; Zhou, Lisa; Hazelett, Dennis J; Larson, Brent K; Vara, Covadonga; Capellá, Gabriel; Castellanos, Víctor Lorca; Rubio, Pilar Garre; Desseigne, Françoise; Ji, Hanlee; Cook, Jackie; Durkie, Miranda; Pineda, Marta; Leclerc, Julie; Hitchins, Megan P

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

一项全国基因组测序计划中,33924个罕见病家庭的倒位效应研究

Alistair T Pagnamenta ,Jing Yu ,Susan Walker ,Alexandra J Noble ,Jenny Lord ,Prasun Dutta ,Mona Hashim ,Carme Camps ,Hannah Green ,Smrithi Devaiah ,Lina Nashef ,Jason Parr ,Carl Fratter ,Rana Ibnouf Hussein ,Sarah J Lindsay ,Fiona Lalloo ,Benito Banos-Pinero ,David Evans ,Lucy Mallin ,Adrian Waite ,Julie Evans ,Andrew Newman ,Zoe Allen ,Cristina Perez-Becerril ,Gavin Ryan ,Rachel Hart ,John Taylor ,Tina Bedenham ,Emma Clement ,Ed Blair ,Eleanor Hay ,Francesca Forzano ,Jenny Higgs ,Natalie Canham ,Anirban Majumdar ,Meriel McEntagart ,Nayana Lahiri ,Helen Stewart ,Sarah Smithson ,Eduardo Calpena ,Adam Jackson ,Siddharth Banka ,Hannah Titheradge ,Ruth McGowan ,Julia Rankin ,Charles Shaw-Smith ,D Gareth Evans ,George J Burghel ,Miriam J Smith ,Emily Anderson ,Rajesh Madhu ,Helen Firth ,Sian Ellard ,Paul Brennan ,Claire Anderson ,Doug Taupin ,Mark T Rogers ,Jackie A Cook ,Miranda Durkie ,James E East ,Darren Fowler ,Louise Wilson ,Rebecca Igbokwe ,Alice Gardham ,Ian Tomlinson ,Diana Baralle ,Holm H Uhlig ,Jenny C Taylor

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

EMQN关于遗传性乳腺癌和卵巢癌基因检测的最佳实践指南

McDevitt, Trudi; Durkie, Miranda; Arnold, Norbert; Burghel, George J; Butler, Samantha; Claes, Kathleen B M; Logan, Peter; Robinson, Rachel; Sheils, Katie; Wolstenholme, Nicola; Hanson, Helen; Turnbull, Clare; Hume, Stacey

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

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access

英国和爱尔兰的罕见病基因组检测:促进及时和公平的获取

Ellard, Sian; Morgan, Sian; Wynn, Sarah L; Walker, Susan; Parrish, Andrew; Mein, Rachael; Juett, Ana; Ahn, Joo Wook; Berry, Ian; Cassidy, Emma-Jane; Durkie, Miranda; Fish, Louise; Hall, Richard; Howard, Emma; Rankin, Julia; Wright, Caroline F; Deans, Zandra C; Scott, Richard H; Hill, Sue L; Baple, Emma L; Taylor, Robert W

Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey

针对如何更好地支持基因组变异数据集中整合的实验室工作流程建议:来自 CanVIG-UK 国家分子实验室调查的结果

Allen, Sophie; Loong, Lucy; Garrett, Alice; Torr, Bethany; Durkie, Miranda; Drummond, James; Callaway, Alison; Robinson, Rachel; Burghel, George J; Hanson, Helen; Field, Joanne; McDevitt, Trudi; McVeigh, Terri P; Bedenham, Tina; Bowles, Christopher; Bradshaw, Kirsty; Brooks, Claire; Butler, Samantha; Del Rey Jimenez, Juan Carlos; Hawkes, Lorraine; Stinton, Victoria; MacMahon, Suzanne; Owens, Martina; Palmer-Smith, Sheila; Smith, Kenneth; Tellez, James; Valganon-Petrizan, Mikel; Waskiewicz, Erik; Yau, Michael; Eccles, Diana M; Tischkowitz, Marc; Goel, Shilpi; McRonald, Fiona; Antoniou, Antonis C; Morris, Eva; Hardy, Steven; Turnbull, Clare