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

Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement

MNS1 中的双等位基因变异与侧向性缺陷和呼吸系统受累相关

Rim Hjeij, Joseph Leslie, Hoda Rizk, Bernd Dworniczak, Heike Olbrich, Johanna Raidt, Sebastian Felix Nepomuk Bode, Alice Gardham, Karen Stals, Mohammad Al-Haggar, Engy Osman, Andrew Crosby, Tarek Eldesoky, Emma Baple, Heymut Omran

Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP

人类内质网分子伴侣 BiP AMPylation 失调导致婴儿期发病的糖尿病

Luke A Perera #, Andrew T Hattersley #, Heather P Harding #, Matthew N Wakeling #, Sarah E Flanagan, Ibrahim Mohsina, Jamal Raza, Alice Gardham, David Ron #, Elisa De Franco #

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor

THOC2 mRNA 核输出因子变异导致临床表现不断扩展

Raman Kumar ,Elizabeth Palmer ,Alison E Gardner ,Renee Carroll ,Siddharth Banka ,Ola Abdelhadi ,Dian Donnai ,Ype Elgersma ,Cynthia J Curry ,Alice Gardham ,Mohnish Suri ,Rishikesh Malla ,Lauren Ilana Brady ,Mark Tarnopolsky ,Dimitar N Azmanov ,Vanessa Atkinson ,Michael Black ,Gareth Baynam ,Lauren Dreyer ,Robin Z Hayeems ,Christian R Marshall ,Gregory Costain ,Marja W Wessels ,Julia Baptista ,James Drummond ,Melanie Leffler ,Michael Field ,Jozef Gecz

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development

EIF4A3 5' 非翻译区的复杂性是颅面和神经发育的关键因素

Gabriella S P Hsia, Camila M Musso, Lucas Alvizi, Luciano A Brito, Gerson S Kobayashi, Rita C M Pavanello, Mayana Zatz, Alice Gardham, Emma Wakeling, Roseli M Zechi-Ceide, Debora Bertola, Maria Rita Passos-Bueno

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

染色质调节基因 BRPF1 突变导致综合征性智力障碍和组蛋白乙酰化缺陷

Kezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, Courtney Kiss, Anna Lehman, Jill A Rosenfeld, Constance T R Stumpel, Alexander P A Stegmann, Laurie Robak, Fernando Scaglia, Thi Tuyet Mai Nguyen, He Fu, Norbert F Ajeawung, Maria Vittoria Camurri, Lin Li, Alice Gardham, Bianca Panis, Mohammed

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

CDC45基因突变(该基因编码起始前复合物的关键组分)会导致梅尔-戈林综合征和颅缝早闭症。

Aimee L Fenwick ,Maciej Kliszczak ,Fay Cooper ,Jennie Murray ,Luis Sanchez-Pulido ,Stephen R F Twigg ,Anne Goriely ,Simon J McGowan ,Kerry A Miller ,Indira B Taylor ,Clare Logan ,Sumita Danda ,Joanne Dixon ,Solaf M Elsayed ,Ezzat Elsobky ,Alice Gardham ,Mariette J V Hoffer ,Marije Koopmans ,Donna M McDonald-McGinn ,Gijs W E Santen ,Ravi Savarirayan ,Deepthi de Silva ,Olivier Vanakker ,Steven A Wall ,Louise C Wilson ,Ozge Ozalp Yuregir ,Elaine H Zackai ,Chris P Ponting ,Andrew P Jackson ,Andrew O M Wilkie ,Wojciech Niedzwiedz ,Louise S Bicknell