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

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

由回文序列介导的16p13.3三倍体可导致一种可识别的神经退行性疾病,并伴有共济失调。

Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M; Bell, Katrina M; Wakeling, Matthew N; Mallin, Lucy J; Shah, Alex; de Silva, Michelle G; Francis, David I; Walsh, Maie; Jones, Emily E; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H; Te Water Naudé, Johann; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H; Tofaris, George K; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S; Bamford, Rosemary A; Jeffries, Aaron R; Lord, Jenny; Walker, Susan; van Ham, Tjakko J; Hill, Sue L; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H; Baple, Emma L; Pagnamenta, Alistair T

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

致病性 PDE12 变异会损害线粒体 RNA 处理,从而导致新生儿线粒体疾病

Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petril

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

mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node

mTOR通路疾病:从实验室到临床的挑战与机遇以及mTOR节点

Mantoan Ritter, Laura; Annear, Nicholas M P; Baple, Emma L; Ben-Chaabane, Leila Y; Bodi, Istvan; Brosson, Lauren; Cadwgan, Jill E; Coslett, Bryn; Crosby, Andrew H; Davies, D Mark; Daykin, Nicola; Dedeurwaerdere, Stefanie; Dühring Fenger, Christina; Dunlop, Elaine A; Elmslie, Frances V; Girodengo, Marie; Hambleton, Sophie; Jansen, Anna C; Johnson, Simon R; Kearley, Kelly C; Kingswood, John C; Laaniste, Liisi; Lachlan, Katherine; Latchford, Andrew; Madsen, Ralitsa R; Mansour, Sahar; Mihaylov, Simeon R; Muhammed, Louwai; Oliver, Claire; Pepper, Tom; Rawlins, Lettie E; Schim van der Loeff, Ina; Siddiqui, Ata; Takhar, Pooja; Tatton-Brown, Katrina; Tee, Andrew R; Tibarewal, Priyanka; Tye, Charlotte; Ultanir, Sila K; Vanhaesebroeck, Bart; Zare, Benjamin; Pal, Deb K; Bateman, Joseph M

Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder

HERC2 相关神经发育障碍中通过 USP20-ULK1 轴导致的自噬失调

Joan Sala-Gaston, Eva M Pérez-Villegas, José A Armengol, Lettie E Rawlins, Emma L Baple, Andrew H Crosby, Francesc Ventura, Jose Luis Rosa

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

Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations

对MUTYH变异携带者的伴侣进行携带者检测:英国癌症遗传学小组的建议

McVeigh, Terri Patricia; Lalloo, Fiona; Monahan, Kevin J; Latchford, Andrew; Durkie, Miranda; Mein, Rachael; Baple, Emma L; Hanson, Helen

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences

在英国开展全国性产前外显子组测序服务:一项探索医疗保健专业人员观点和经验的混合方法研究

Peter, Michelle; Mellis, Rhiannon; McInnes-Dean, Hannah; Daniel, Morgan; Walton, Holly; Fisher, Jane; Leeson-Beevers, Kerry; Allen, Stephanie; Baple, Emma L; Beleza-Meireles, Ana; Bertoli, Marta; Campbell, Jennifer; Canham, Natalie; Cilliers, Deirdre; Cobben, Jan; Eason, Jacqueline; Harrison, Victoria; Holder-Espinasse, Muriel; Male, Alison; Mansour, Sahar; McEwan, Alec; Park, Soo-Mi; Smith, Audrey; Stewart, Alison; Tapon, Dagmar; Vasudevan, Pradeep; Williams, Denise; Wu, Wing Han; Chitty, Lyn S; Hill, Melissa

Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families

调查巴基斯坦家族遗传性痉挛性截瘫和小脑性共济失调的遗传基础

Azeem, Arfa; Ahmed, Asif Naveed; Khan, Niamat; Voutsina, Nikol; Ullah, Irfan; Ubeyratna, Nishanka; Yasin, Muhammad; Baple, Emma L; Crosby, Andrew H; Rawlins, Lettie E; Saleha, Shamim

Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan

扩大巴基斯坦遗传性运动感觉神经病的遗传谱

Ahmed, Asif Naveed; Rawlins, Lettie E; Khan, Niamat; Jan, Zakir; Ubeyratna, Nishanka; Voutsina, Nikol; Azeem, Arfa; Khan, Saadullah; Baple, Emma L; Crosby, Andrew H; Saleha, Shamim