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

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

泛硫乙胺可改善 PPCS 缺乏症患者和细胞系模型中的扩张型心肌病特征

Zhang Fangfang, Dorn Tatjana, Gnutti Barbara, Anikster Yair, Kuebler Sarah, Ahrens-Nicklas Rebecca, Gosselin Rachel, Rahman Shamima, Durst Ronen, Zanuttigh Enrica, Güra Miriam A, Poch Christine M, Meier Anna B, Laugwitz Karl-Ludwig, Schüller Hans-Joachim, Messias Ana C, Sibon Ody C, Finazzi Dario, Rippert Alyssa, Li Dong, Truxal Kristen, Nandi Deipanjan, Lampert Brent C, Yeo Mildrid, Gardham Alice, Nissan Batel, Horowitz Cederboim Smadar, Moretti Alessandra, Iuso Arcangela

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

Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q(10) Biosynthesis Disorders

单中心队列中辅酶Q(10)生物合成障碍患者的临床特征、生化、影像学和治疗反应

Wahedi, Azizia; Sudhakar, Sniya; Lam, Amanda; Ciancio, Jose Ignacio Rodriguez; Mills, Philippa; Gissen, Paul; Gardham, Alice; Kapadia, Jogesh; Hassell, Jane; Heales, Simon; Rahman, Shamima

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders

对患有严重发育障碍的儿童进行基因诊断后的大规模结果评估

Copeland, Harriet; Low, Karen J; Wynn, Sarah L; Ahmed, Ayesha; Arthur, Victoria; Balasubramanian, Meena; Bennett, Katya; Berg, Jonathan; Bertoli, Marta; Bryson, Lisa; Bucknall, Catrin; Campbell, Jamie; Chandler, Kate; Chauhan, Jaynee; Clarkson, Amy; Coles, Rachel; Conti, Hector; Costello, Philandra; Coupar, Tessa; Craig, Amy; Dean, John; Dillon, Amy; Dixit, Abhijit; Drew, Kathryn; Eason, Jacqueline; Forzano, Francesca; Foulds, Nicola; Gardham, Alice; Ghali, Neeti; Green, Andrew; Hanna, William; Harrison, Rachel; Hegarty, Mairead; Higgs, Jenny; Holder, Muriel; Irving, Rachel; Jain, Vani; Johnson, Katie; Jolley, Rachel; Jones, Wendy D; Jones, Gabriela; Joss, Shelagh; Kalinauskiene, Ruta; Kanani, Farah; Kavanagh, Karl; Khan, Mahmudur; Khan, Naz; Kivuva, Emma; Lahiri, Nayana; Lakhani, Neeta; Lampe, Anne; Lynch, Sally Ann; Mansour, Sahar; Marsden, Alice; Massey, Hannah; McKee, Shane; Mohammed, Shehla; Naik, Swati; Nesarajah, Mithushanaa; Newbury-Ecob, Ruth; Osborne, Fiona; Parker, Michael J; Patterson, Jenny; Pottinger, Caroline; Prapa, Matina; Prescott, Katrina; Quinn, Shauna; Radley, Jessica A; Robart, Sarah; Ross, Alison; Rosti, Giulia; Sansbury, Francis H; Sarkar, Ajoy; Searle, Claire; Shannon, Nora; Shears, Debbie; Smithson, Sarah; Stewart, Helen; Suri, Mohnish; Tadros, Shereen; Theobald, Rachel; Thomas, Rhian; Tsoulaki, Olga; Vasudevan, Pradeep; Rodriguez, Maribel Verdesoto; Vittery, Emma; Whyte, Sinead; Woods, Emily; Wright, Thomas; Zocche, David; Firth, Helen V; Wright, Caroline F

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

对携带致病性新生突变的婴儿出生后进行个性化复发风险评估

Bernkopf, Marie; Abdullah, Ummi B; Bush, Stephen J; Wood, Katherine A; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J; Thibaut, Loïc M; Williams, Jonathan; Blair, Edward M; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A; Johnson, Diana; Jones, Wendy D; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M; Leitch, Harry G; Morton, Jenny E V; Németh, Andrea H; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W; Wilkie, Andrew O M; Goriely, Anne

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 #

Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome

HNRNPU基因的种系致病变异与血液甲基化组的改变相关。

Lee, Sunwoo; Ochoa, Eguzkine; Badura-Stronka, Magdalena; Donnelly, Deirdre; Lederer, Damien; Lynch, Sally A; Gardham, Alice; Morton, Jenny; Stewart, Helen; Docquier, France; Rodger, Fay; Martin, Ezequiel; Toribio, Ana; Maher, Eamonn R; Balasubramanian, Meena

Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea

KCNK3基因的功能获得性突变会导致一种伴有睡眠呼吸暂停的发育障碍

Sörmann, Janina; Schewe, Marcus; Proks, Peter; Jouen-Tachoire, Thibault; Rao, Shanlin; Riel, Elena B; Agre, Katherine E; Begtrup, Amber; Dean, John; Descartes, Maria; Fischer, Jan; Gardham, Alice; Lahner, Carrie; Mark, Paul R; Muppidi, Srikanth; Pichurin, Pavel N; Porrmann, Joseph; Schallner, Jens; Smith, Kirstin; Straub, Volker; Vasudevan, Pradeep; Willaert, Rebecca; Carpenter, Elisabeth P; Rödström, Karin E J; Hahn, Michael G; Müller, Thomas; Baukrowitz, Thomas; Hurles, Matthew E; Wright, Caroline F; Tucker, Stephen J

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

利用“十万基因组计划”的数据来解决对复发性TUBB2A突变的不同解读

Ragoussis, Vassilis; Pagnamenta, Alistair T; Haines, Rebecca L; Giacopuzzi, Edoardo; McClatchey, Martin A; Sampson, Julian R; Suri, Mohnish; Gardham, Alice; Cobben, Jan-Maarten; Osio, Deborah; Fry, Andrew E; Taylor, Jenny C