8 Papers
3 Citations
Wei Li is an academic researcher from Capital Medical University. The author has contributed to research in topics: Exome sequencing & Compound heterozygosity. The author has an hindex of 3, co-authored 8 publications. Previous affiliations of Wei Li include Boston Children's Hospital.
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Papers
Whole-exome sequencing reveals two de novo variants in the RBM20 gene in two Chinese patients with left ventricular non-compaction cardiomyopathy.
Qiqing Sun,Jun Guo,Jun Guo,Chanjuan Hao,Chanjuan Hao,Ruolan Guo,Ruolan Guo,Xuyun Hu,Xuyun Hu,Yuanying Chen,Yuanying Chen,Weili Yang,Wei Li,Wei Li,Yingjun Feng +14 more
- 01 Mar 2020
TL;DR: Recently, RBM20 was found to be associated with left ventricular non‐compaction cardiomyopathy (LVNC), and it remains unknown whether the variants in R BM20 associated with DCM can also cause LVNC.
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Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.
Yuanying Chen,Boliang Fang,Xuyun Hu,Xuyun Hu,Ruolan Guo,Ruolan Guo,Jun Guo,Jun Guo,Kenan Fang,Jingwen Ni,Wei Li,Wei Li,Suyun Qian,Chanjuan Hao,Chanjuan Hao +14 more
TL;DR: In this paper, the authors reported three cases of encephalopathy from two unrelated pedigrees with basal ganglia signal changes after fever of unknown origin, and exome sequencing was performed, and four novel heterozygous variations, namely, c.169G>A (p.Ala57Thr), c.383C>T(p.Gly26Arg), and c.745T>A(phe249Ile), were identified in SLC25A19.
Whole-exome sequencing identifies a novel compound heterozygous mutation of ANKS6 gene in a Chinese nephronophthisis patient.
TL;DR: A patient with ANKS6 variants in the East-Asian population for the first time is identified and the usefulness of whole-exome sequencing for genetic diagnosis of kidney disease is emphasized.
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Novel HMGCS2 pathogenic variants in a Chinese family with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency.
Pengfei Zhang,Xuyun Hu,Xuyun Hu,Ruolan Guo,Ruolan Guo,Jun Guo,Jun Guo,Wei Li,Wei Li,Suyun Qian,Chanjuan Hao,Chanjuan Hao,Jun Liu +12 more
- 01 Jun 2019
TL;DR: In this article, the authors identify the genetic causes and evaluate the phenotype of mitochondrial HMG-CoA synthase deficiency in a pediatric patient with uncommon features that included ketosis and elevated lactate and ammonia.
4
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report.
Jun Liu,Xuyun Hu,Xuyun Hu,Zhipeng Zhao,Ruolan Guo,Ruolan Guo,Jun Guo,Jun Guo,Wei Li,Wei Li,Chanjuan Hao,Chanjuan Hao,Baoping Xu +12 more
TL;DR: Only a few cases with LPIN2 mutation have been reported, mainly in the Middle East with homozygous variants, and the patient exhibited a mild clinical phenotype and severe neutropenia, different from previous reports.