Ru-En Yao (Ruen Yao)

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 13

Top Topics

Top Venues

Molecular genetics & genomic medicine

BMC medical genomics

BMC medical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru-En Yao, Tingting Yu, Yu Ding, Xiumin Wang
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review. Molecular genetics & genomic medicine (2023)
Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Jie Tang, Niu Li, Guoqiang Li, Jian Wang, Tingting Yu, Ru-En Yao
Assessment of Rare Genetic Variants to Identify Candidate Modifier Genes Underlying Neurological Manifestations in Neurofibromatosis 1 Patients. Genes 13 (12) (2022)
Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang, Ru-En Yao
Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report. BMC medical genomics 14 (1) (2021)
Huanhuan Liang, Niu Li, Ru-En Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis. Molecular genetics & genomic medicine 9 (11) (2021)
Ru-En Yao, Yi Zhang, Jie Liu, Jiwen Wang, Yufei Xu, Niu Li, Jian Wang, Tingting Yu
Clinical and Molecular Characterization of Three Novel ARHGEF9 Mutations in Patients with Developmental Delay and Epilepsy. Journal of molecular neuroscience : MN 70 (6) (2020)
Yi Zhang, Tingting Yu, Niu Li, Jiwen Wang, Jian Wang, Yihua Ge, Ru-En Yao
Psychomotor development and attention problems caused by a splicing variant of CNKSR2. BMC medical genomics 13 (1) (2020)
Chen Wang, Yufei Xu, Yanrong Qing, Ru-En Yao, Niu Li, Xiumin Wang, Tingting Yu, Jian Wang
TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations. Molecular genetics & genomic medicine 8 (10) (2020)
Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang, Ru-En Yao
De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype. BMC medical genetics 20 (1) (2019)
Ru-En Yao, Tingting Yu, Yufei Xu, Li Yu, Jiwen Wang, Xiumin Wang, Jian Wang, Yiping Shen
Clinical Presentation and Novel Pathogenic Variants among 68 Chinese Neurofibromatosis 1 Children. Genes 10 (11) (2019)
Ru-En Yao, Tingting Yu, Yanrong Qing, Jian Wang, Yiping Shen
Evaluation of copy number variant detection from panel-based next-generation sequencing data. Molecular genetics & genomic medicine 7 (1) (2018)