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Ruen Yao
Observed names:
RUEN YAO,
Ru-En Yao,
Ru-en Yao,
RuEn Yao,
Ru’en Yao,
Yao, Ru-en
show all 6
Institutions:
Shanghai Jiao Tong University,
Shanghai Children's Medical Center
Observed institutions:
Shanghai Jiao Tong University,
Shanghai Children's Medical Center,
Shanghai Clinical Research Center,
Shanghai Children's Hospital
OpenAlex ID:
A5101188891
Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data
2017
·
Ruen Yao
, Cheng Zhang
, et al.
·
Molecular Cytogenetics
·
108
PDF
Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience
2017
·
Xuyun Hu
, Niu Li
, et al.
·
Genetics in Medicine
·
82
PDF
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development
2017
·
Yanjie Fan
, Xia Zhang
, et al.
·
Scientific Reports
·
60
PDF
Molecular and phenotypic spectrum of Noonan syndrome in Chinese patients
2019
·
Xin Li
, Ruen Yao
, et al.
·
Clinical Genetics
·
53
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients
2018
·
Niu Li
, Yirou Wang
, et al.
·
Orphanet Journal of Rare Diseases
·
48
PDF
Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay
2017
·
Niu Li
, Yufei Xu
, et al.
·
Medicine
·
47
Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature
2021
·
Xin Li
, Ruen Yao
, et al.
·
The Journal of Clinical Endocrinology & Metabolism
·
38
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature
2015
·
Yongguo Yu
, RuEn Yao
, et al.
·
BMC Genomics
·
35
PDF
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal
2015
·
Jian Wang
, Tingting Yu
, et al.
·
Journal of Bone and Mineral Research
·
34
PDF
CNV profiles of Chinese pediatric patients with developmental disorders
2021
·
Haiming Yuan
, Shaofang Shangguan
, et al.
·
Genetics in Medicine
·
32
PDF
Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis
2021
·
Xinyao Zhou
, Jia Zhou
, et al.
·
Frontiers in Genetics
·
26
PDF
Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature
2017
·
Niu Li
, Guoying Chang
, et al.
·
American Journal of Medical Genetics Part A
·
26
Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study
2022
·
Wenxiu Chan
, Shiwei Yang
, et al.
·
EClinicalMedicine
·
25
PDF
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
2019
·
Yufei Xu
, Yirou Wang
, et al.
·
European Journal of Endocrinology
·
24
Screening for Coding Variants in FTO and SH2B1 Genes in Chinese Patients with Obesity
2013
·
Zhaojing Zheng
, Li Hong
, et al.
·
PLoS ONE
·
23
PDF
Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia
2013
·
Haiou Yang
, Lili Wang
, et al.
·
Cellular Physiology and Biochemistry
·
22
PDF
Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease
2022
·
Tingting Yu
, Yi Zhang
, et al.
·
Nucleic Acids Research
·
21
PDF
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)
2018
·
Guoqiang Li
, Yufei Xu
, et al.
·
European Journal of Medical Genetics
·
21
Molecular defects identified by whole exome sequencing in a child with Fanconi anemia
2013
·
Zhaojing Zheng
, Juan Geng
, et al.
·
Gene
·
19
Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray
2016
·
Guorui Hu
, Yanjie Fan
, et al.
·
Molecular Cytogenetics
·
17
PDF
Diagnostic value of multiple café‐au‐lait macules for neurofibromatosis 1 in Chinese children
2015
·
Ruen Yao
, Lili Wang
, et al.
·
The Journal of Dermatology
·
17
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay
2016
·
Samantha LP Schilit
, Benjamin B Currall
, et al.
·
European Journal of Human Genetics
·
16
NEIL3 contributes to the Fanconi anemia/BRCA pathway by promoting the downstream double-strand break repair step
2022
·
Niu Li
, Yufei Xu
, et al.
·
Cell Reports
·
15
Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort
2021
·
Wei Long
, Fang Guo
, et al.
·
Frontiers in Endocrinology
·
14
PDF
Novel compound heterozygous variant of TOE1 results in a mild type of pontocerebellar hypoplasia type 7: an expansion of the clinical phenotype
2021
·
Hongzhu Chen
, Niu Li
, et al.
·
Neurogenetics
·
12
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Works count:
93
Citation count:
1,068
H-index:
19
I10-index:
30
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