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

A New GlyT2 Variant Associated with Hyperekplexia

一种与惊厥症相关的新的 GlyT2 变异体

Jorge Sarmiento-Jiménez ,Raquel Felipe ,Enrique Núñez ,Alejandro Ferrando-Muñoz ,Cristina Benito-Muñoz ,Federico Gago ,Jesús Vázquez ,Emilio Camafeita ,Emma Clement ,Brian Wilson ,Beatriz López-Corcuera

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

A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

新的 ELP1 突变会损害 Elongator 复合体的功能并导致严重的神经发育表型

Marija Kojic #, Nour E H Abbassi #, Ting-Yu Lin, Alun Jones, Emma L Wakeling, Emma Clement, Vasiliki Nakou, Matthew Singleton, Dominika Dobosz, Marios Kaliakatsos, Sebastian Glatt, Brandon J Wainwright

Contribution of retrotransposition to developmental disorders

逆转录转座对发育障碍的贡献

Eugene J Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E Samocha, Juliet Handsaker, Sebastian S Gerety, Holly Ironfield, Patrick J Short, Alejandro Sifrim, Tarjinder Singh, Kate E Chandler, Emma Clement, Katherine L Lachlan, Katrina Prescott, Elisabeth Rosser, David R FitzPatrick,