Ruolan Guo - Concepedia

Author

Ruolan Guo

Beijing Children’s Hospital ORCID

Also Known As

Ruo-Lan Guo, Ruolan Guo

Publications

563

Citations

H-Index

Concepts

All Affiliations

Beijing Children’s Hospital Capital Medical University Zhengzhou Children's Hospital Central South University National Center for Women and Children’s Health, China CDC

About

Ruolan Guo is an author at Beijing Children’s Hospital specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	134
2	Public Health	1	1	46
3	Epidemiology	1	1	46
4	Molecular Genetics	1	1	12
5	Neurology	1	1	15

Ruolan Guo

Publications

400

Citations

H-Index

Page 1

	Year	Citations
Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART) Weigang Lv, Xianda Wei, Ruolan Guo, Clinical Chemistry	2014	111
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy Ruolan Guo, Zhu Guo-sheng, Huimin Zhu, Journal of Human Genetics UrologyMendelian DisorderGenetic DisorderDifferential DiagnosisPathology	2015	61
Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China Chanjuan Hao, Ruolan Guo, Xuyun Hu, Journal of genetics and genomics/Journal of Genetics and Genomics Genetic TestingNeonatologyGeneticsGenetic EpidemiologyDiagnosis	2021	46
A novel de novo <i>CASZ1</i> heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy Jun Guo, Zheng Li, Chanjuan Hao, Molecular Genetics & Genomic Medicine	2019	26
A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies Ruiyu Ma, Linbei Deng, Yan Xia, Scientific Reports	2017	24
Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders Xuyun Hu, Ruolan Guo, Jun Guo, Frontiers in Genetics	2020	24
A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency Wenjun Mou, Yang Shen, Ruolan Guo, Frontiers in Immunology	2021	20
Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report Jun Liu, Xuyun Hu, Zhipeng Zhao, BMC Medical Genetics	2019	17
Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion tensor MR imaging Huiying Kang, Miao Zhang, Minhui Ouyang, European Journal of Radiology Gaucher DiseaseNeurological DisorderWhite MatterNeuroimagingNeuroscience	2018	15
<i>CASQ2</i> variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia Qirui Li, Ruolan Guo, Lu Gao, Molecular Genetics & Genomic Medicine	2019	12

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