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

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

Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure

来自“十万基因组计划”的次要(补充)发现:疾病表现、医疗保健结果和信息披露成本

Nolan, Joshua; Buchanan, James; Taylor, John; Almeida, Joao; Bedenham, Tina; Blair, Edward; Broadgate, Suzanne; Butler, Samantha; Cazeaux, Angela; Craft, Judith; Cranston, Treena; Crawford, Gillian; Forrest, Jamie; Gabriel, Jessica; George, Elaine; Gillen, Donna; Haeger, Ash; Hastings Ward, Jillian; Hawkes, Lara; Hodgkiss, Claire; Hoffman, Jonathan; Jones, Alan; Karpe, Fredrik; Kasperaviciute, Dalia; Kovacs, Erika; Leigh, Sarah; Limb, Elizabeth; Lloyd-Jani, Anjali; Lopez, Javier; Lucassen, Anneke; McFarlane, Carlos; O'Rourke, Anthony W; Pond, Emily; Sherman, Catherine; Stewart, Helen; Thomas, Ellen; Thomas, Simon; Thomas, Tessy; Thomson, Kate; Wakelin, Hannah; Walker, Susan; Watson, Melanie; Williams, Eleanor; Ormondroyd, Elizabeth

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

Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records

1996-2020年英国国民医疗服务体系(NHS)区域分子基因组学实验室的种系错配修复(MMR)基因分析:建立国家级患者级基因组学实验室记录资源

Loong, Lucy; Huntley, Catherine; McRonald, Fiona; Santaniello, Francesco; Pethick, Joanna; Torr, Bethany; Allen, Sophie; Tulloch, Oliver; Goel, Shilpi; Shand, Brian; Rahman, Tameera; Luchtenborg, Margreet; Garrett, Alice; Barber, Richard; Bedenham, Tina; Bourn, David; Bradshaw, Kirsty; Brooks, Claire; Bruty, Jonathan; Burghel, George J; Butler, Samantha; Buxton, Chris; Callaway, Alison; Callaway, Jonathan; Drummond, James; Durkie, Miranda; Field, Joanne; Jenkins, Lucy; McVeigh, Terri P; Mountford, Roger; Nyanhete, Rodney; Petrides, Evgenia; Robinson, Rachel; Scott, Tracy; Stinton, Victoria; Tellez, James; Wallace, Andrew J; Yarram-Smith, Laura; Sahan, Kate; Hallowell, Nina; Eccles, Diana M; Pharoah, Paul; Tischkowitz, Marc; Antoniou, Antonis C; Evans, D Gareth; Lalloo, Fiona; Norbury, Gail; Morris, Eva; Burn, John; Hardy, Steven; Turnbull, Clare

Germline variant testing in serrated polyposis syndrome

锯齿状息肉综合征的种系变异检测

Murphy, Aisling; Solomons, Joyce; Risby, Peter; Gabriel, Jessica; Bedenham, Tina; Johnson, Michael; Atkinson, Nathan; Bailey, Adam A; Bird-Lieberman, Elizabeth; Leedham, Simon J; East, James E; Biswas, Sujata