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

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program

从维多利亚州未确诊疾病计划前150个家庭的多方面诊断方法中汲取的经验教训

Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S; Tan, Natalie B; Yeung, Alison; Stark, Zornitza; Brown, Natasha J; McGillivray, George; Delatycki, Martin B; de Silva, Michelle G; Downie, Lilian; Stutterd, Chloe A; Elliott, Justine; Compton, Alison G; Lovgren, Alysia; Oertel, Ralph; Francis, David; Bell, Katrina M; Sadedin, Simon; Lim, Sze Chern; Helman, Guy; Simons, Cas; Macarthur, Daniel G; Thorburn, David R; O'Donnell-Luria, Anne H; Christodoulou, John; White, Susan M; Tan, Tiong Yang

Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion

由新型ATAD3A复合杂合缺失引起的严重脊髓发育不全

Ebihara, Tomohiro; Nagatomo, Taro; Sugiyama, Yohei; Tsuruoka, Tomoko; Osone, Yoshiteru; Shimura, Masaru; Tajika, Makiko; Ichimoto, Keiko; Naruke, Yuki; Akiyama, Nana; Lim, Sze Chern; Yatsuka, Yukiko; Nitta, Kazuhiro R; Kishita, Yoshihito; Fushimi, Takuya; Okazaki, Atsuko; Ohtake, Akira; Okazaki, Yasushi; Murayama, Kei

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

STT3A活性位点变异会导致一种显性遗传的I型先天性糖基化障碍,并伴有神经肌肉骨骼系统症状。

Wilson, Matthew P; Garanto, Alejandro; Pinto E Vairo, Filippo; Ng, Bobby G; Ranatunga, Wasantha K; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupré, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Susan M; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodríguez-Palmero, Agustí; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C H; Jaeken, Jaak; Freeze, Hudson H; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J

Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function

线粒体脂肪酸 β-氧化蛋白中链酰基辅酶 A 脱氢酶的缺失会破坏氧化磷酸化蛋白复合物的稳定性和功能

Sze Chern Lim, Makiko Tajika, Masaru Shimura, Kirstyn T Carey, David A Stroud, Kei Murayama, Akira Ohtake, Matthew McKenzie

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

PET100 的创始突变导致患有 Leigh 综合征的黎巴嫩患者出现单独的复合物 IV 缺陷

Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Ayan Dasvarma, Luke C Gandolfo, Justine E Marum, Matthew McKenzie, Heidi L Peters, David Mowat, Peter G Procopis, Bridget Wilcken, John Christodoulou, Garry K Brown, Michael T Ryan, Melanie Bahlo, David R Thorburn

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

LYRM4 基因突变(编码铁硫簇生物合成因子 ISD11)导致多种呼吸链复合物缺乏

Sze Chern Lim, Martin Friemel, Justine E Marum, Elena J Tucker, Damien L Bruno, Lisa G Riley, John Christodoulou, Edwin P Kirk, Avihu Boneh, Christine M DeGennaro, Michael Springer, Vamsi K Mootha, Tracey A Rouault, Silke Leimkühler, David R Thorburn, Alison G Compton

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

利用靶向新一代测序技术对婴儿线粒体疾病进行分子诊断

Sarah E Calvo, Alison G Compton, Steven G Hershman, Sze Chern Lim, Daniel S Lieber, Elena J Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B Jaffe, John Christodoulou, Janice M Fletcher, Damien L Bruno, Jack Goldblatt, Salvatore Dimauro, David R Thorburn, Vamsi K Mootha

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

线粒体酪氨酰tRNA合成酶基因YARS2的突变会导致肌病、乳酸性酸中毒和铁粒幼细胞性贫血——MLASA综合征。

Riley, Lisa G; Cooper, Sandra; Hickey, Peter; Rudinger-Thirion, Joëlle; McKenzie, Matthew; Compton, Alison; Lim, Sze Chern; Thorburn, David; Ryan, Michael T; Giegé, Richard; Bahlo, Melanie; Christodoulou, John