Concepedia

Jiaxi Yu

JY

12

Publications

694

Citations

11

H-Index

2019

Active since

Affiliations

Peking University First Hospital(Current)

Peking University

Nanchang University

First Affiliated Hospital of Nanchang University

Grandomics (China)

Jiaxi Yu is an author at Peking University First Hospital specializing in medicine, genetics, and neuromuscular pathology.

Top concepts

MedicineGeneticsPathologyNeuromuscular PathologyCell BiologyMolecular GeneticsUrologyRadiologyNeuropathologyAutoimmune Disease

Publications per year

2019–2023

12

Publications

12

Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy

Jianwen Deng, Jiaxi Yu, Pidong Li et al. · The American Journal of Human Genetics · 2020 · 150 citations · Full text

Oculopharyngodistal Myopathy, Medicine, Genetics +6

Long-read sequencing identified repeat expansions in the 5′UTR of the <i>NOTCH2NLC</i> gene from Chinese patients with neuronal intranuclear inclusion disease

Jianwen Deng, Muliang Gu, Yu Miao et al. · Journal of Medical Genetics · 2019 · 136 citations

The GGC repeat expansion in<i>NOTCH2NLC</i>is associated with oculopharyngodistal myopathy type 3

Jiaxi Yu, Jianwen Deng, Xueyu Guo et al. · Brain · 2021 · 130 citations · Full text

Ggc Repeat Expansions, Signal Transduction, Opdm Type 3 +13

The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4

Jiaxi Yu, Jingli Shan, Meng Yu et al. · The American Journal of Human Genetics · 2022 · 77 citations · Full text

Cgg Repeat Expansion, Autoimmune Disease, Genetic Disorder +4

Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease

Jianwen Deng, Binbin Zhou, Jiaxi Yu et al. · Journal of Medical Genetics · 2021 · 57 citations

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