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
期刊:Am J Hum Genet
影响因子:8.100
doi:10.1016/j.ajhg.2024.04.018.
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