ATP1A3 mosaicism in families with alternating hemiplegia of childhood-Reference-Cited by-同舟云学术

ATP1A3 mosaicism in families with alternating hemiplegia of childhood

Published:2019-04-03 Issue:1 Volume:96 Page:43-52
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Yang Xiaoling¹^ORCID,Yang Xiaoxu²^ORCID,Chen Jiaoyang¹,Li Shupin¹,Zeng Qi¹^ORCID,Huang August Y.²^ORCID,Ye Adam Y.²³⁴^ORCID,Yu Zhe³⁴,Wang Sheng⁵⁶,Jiang Yuwu¹,Wu Xiru¹,Wu Qixi⁴⁷^ORCID,Wei Liping²,Zhang Yuehua¹^ORCID

Affiliation:

1. Department of PediatricsPeking University First Hospital Beijing China

2. Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life SciencesPeking University Beijing China

3. Academy for Advanced Interdisciplinary StudiesPeking University Beijing China

4. Peking‐Tsinghua Center for Life Sciences Peking University, Beijing China

5. Dr Liping Wei's lab, National Institute of Biological Sciences Beijing China

6. College of Biological SciencesChina Agricultural University Beijing China

7. Human Genetic Resources Core Facility, School of Life SciencesPeking University Beijing China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13539

Reference33 articles.

1. Alternating hemiplegia of childhood

2. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

3. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

4. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

5. ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Parental germline mosaicism in genome-wide phased de novo variants: recurrence risk assessment and implications for precision genetic counselling;2024-08-13

2. Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder;International Journal of Molecular Sciences;2024-05-24

3. Assessment of parental mosaicism rates in neurodevelopmental disorders caused by apparent de novo pathogenic variants using deep sequencing;Scientific Reports;2024-03-04

4. Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation;Nature Communications;2023-02-15

5. A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia;Molecular Genetics & Genomic Medicine;2023-02-07