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

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

扩大 ANO10 相关常染色体隐性小脑共济失调的等位基因异质性

Sean Massey, Yiran Guo, Lisa G Riley, Nicole J Van Bergen, Sarah A Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M S Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder

复合杂合TERT突变之间的功能相互作用会导致严重的端粒生物学紊乱

Aram Niaz,Jia Truong,Annabel Manoleras,Lucy C Fox,Piers Blombery,Raja S Vasireddy,Hilda A Pickett,Julie A Curtin,Pasquale M Barbaro,Jonathan Rodgers,John Roy,Lisa G Riley,Jessica K Holien,Scott B Cohen,Tracy M Bryan

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy

COX11 的双等位基因致病变异与婴儿期发病的线粒体脑病有关

Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, Lisa G Riley, Zafer Yüksel, Luke E Formosa, Alison G Compton, Russell C Dale, Mark J Cowley, Velimir Gayevskiy, Saeed M Al Tala, Abdulrahman A Almehery, Michael T Ryan, David R Thorburn, Ken Nakamura, John Christodoulou

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

CRLS1 中的有害变异会导致心磷脂缺乏,并引发常染色体隐性多系统线粒体疾病

Richard G Lee, Shanti Balasubramaniam, Maike Stentenbach, Tom Kralj, Tim McCubbin, Benjamin Padman, Janine Smith, Lisa G Riley, Archana Priyadarshi, Liuyu Peng, Madison R Nuske, Richard Webster, Ken Peacock, Philip Roberts, Zornitza Stark, Gabrielle Lemire, Yoko A Ito; Care4Rare Canada Consortium; K

Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability

人类 iPSC 衍生的视网膜类器官和视网膜色素上皮用于新型内含子 RPGR 变体的治疗适用性评估

Fidelle Chahine Karam, To Ha Loi, Alan Ma, Benjamin M Nash, John R Grigg, Darshan Parekh, Lisa G Riley, Elizabeth Farnsworth, Bruce Bennetts, Anai Gonzalez-Cordero, Robyn V Jamieson

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

LARS2 和 KARS 的双等位基因变异会导致耳聋和(卵巢)白质营养不良

Marjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, Lisa G Riley, Desiree E C Smith, Joëlle Rudinger-Thirion, Magali Frugier, Marjolein Breur, Joanna Crawford, Judith van Gaalen, Meyke Schouten, Marjolaine Willems, Quinten Waisfisz, Frederic Tran Mau-Them, Richard J Rodenburg, Ryan J Taft, Bor

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

双等位基因致病性 PNPT1 变异相关的临床表现和功能后果

Rocio Rius, Nicole J Van Bergen, Alison G Compton, Lisa G Riley, Maina P Kava, Shanti Balasubramaniam, David J Amor, Miriam Fanjul-Fernandez, Mark J Cowley, Michael C Fahey, Mary K Koenig, Gregory M Enns, Simon Sadedin, Meredith J Wilson, Tiong Y Tan, David R Thorburn, John Christodoulou

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

甘氨酰-tRNA合成酶(GARS)复合杂合突变导致线粒体呼吸链功能障碍

Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

全外显子组测序确定了一名 MRI 患者晚发型 Leigh 综合征的遗传基础,但几乎没有线粒体疾病的生化证据

Michael Nafisinia, Yiran Guo, Xiao Dang, Jiankang Li, Yulan Chen, Jianguo Zhang, Nicole J Lake, Wendy A Gold, Lisa G Riley, David R Thorburn, Brendan Keating, Xun Xu, Hakon Hakonarson, John Christodoulou

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

MECR 突变导致儿童期肌张力障碍和视神经萎缩(一种线粒体脂肪酸合成障碍)

Gali Heimer, Juha M Kerätär, Lisa G Riley, Shanti Balasubramaniam, Eran Eyal, Laura P Pietikäinen, J Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Fl