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Yaqiong Wang
Yaqiong Wang
Children's Hospital of Fudan University
在 fudan.edu.cn 的电子邮件经过验证
标题
引用次数
引用次数
年份
The role of exome sequencing in newborn screening for inborn errors of metabolism
AN Adhikari, RC Gallagher, Y Wang, RJ Currier, G Amatuni, ...
Nature medicine 26 (9), 1392-1397, 2020
1682020
Step‐wise and lineage‐specific diversification of plant RNA polymerase genes and origin of the largest plant‐specific subunits
Y Wang, H Ma
New Phytologist 207 (4), 1198-1212, 2015
372015
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge
M Carraro, AM Monzon, L Chiricosta, F Reggiani, MC Aspromonte, ...
Human mutation 40 (9), 1330-1345, 2019
152019
Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay
X Zhao, B Wu, H Chen, P Zhang, Y Qian, X Peng, X Dong, Y Wang, G Li, ...
Frontiers in Pediatrics 10, 982361, 2022
72022
Using secondary structure to predict the effects of genetic variants on alternative splicing
R Wang, Y Wang, Z Hu
Human mutation 40 (9), 1270-1279, 2019
62019
Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family
P Zhang, B Wu, Y Wang, Y Ren, G Li, Y Qan, C Lei, H Wang
Reproductive Sciences 29 (8), 2200-2207, 2022
52022
Comparative analysis of neural transcriptomes and functional implication of unannotated intronic expression
Y Sun, Y Wang, Y Hu, G Chen, H Ma
BMC genomics 12, 1-23, 2011
42011
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project
SL Stenton, MC O’Leary, G Lemire, GE VanNoy, S DiTroia, VS Ganesh, ...
Human Genomics 18 (1), 44, 2024
32024
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
N Null, S Jain, C Bakolitsa, SE Brenner, P Radivojac, J Moult, S Repo, ...
Genome Biology 25 (1), 1-46, 2024
32024
In the developing cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes
Q Guo, Y Wang, Q Wang, Y Qian, Y Jiang, X Dong, H Chen, X Chen, X Liu, ...
Pediatric Research 93 (6), 1519-1527, 2023
32023
Overcoming the pitfalls of next-generation sequencing–based molecular diagnosis of Shwachman-Diamond Syndrome
X Peng, X Dong, Y Wang, B Wu, H Wang, W Lu, F Xiao, L Yang, G Li, ...
The Journal of Molecular Diagnostics 24 (12), 1240-1253, 2022
32022
Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family
Q Guo, P Zhang, W Ying, Y Wang, J Zhu, G Li, H Wang, X Wang, C Lei, ...
Molecular Genetics & Genomic Medicine 10 (6), e1934, 2022
32022
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods
Genome Interpretation Consortium
arXiv e-prints, arXiv: 2205.05897, 2022
22022
An automatic diagnostic system for pediatric genetic disorders by linking genotype and phenotype information
X Dong, B Wu, H Wang, L Yang, X Chen, Q Ni, Y Wang, B Liu, Y Lu, ...
medRxiv, 2021.08. 26.21261185, 2021
22021
Perturbation robustness analyses reveal important parameters in variant interpretation pipelines
Y Wang, AN Adhikari, U Sunderam, MN Kvale, RJ Currier, RC Gallagher, ...
bioRxiv, 2020.06. 29.173815, 2020
22020
Predicting the impact of rare variants on RNA splicing in CAGI6
J Lord, CJ Oquendo, HA Wai, AGL Douglas, DJ Bunyan, Y Wang, Z Hu, ...
Human Genetics, 1-9, 2024
12024
Next generation sequencing data analysis pipeline of Children's Hospital of Fudan University and its clinical application
C Bin, D Xinran, W Huijun, WU Bingbing, Y Lin, W Xiao, W Yaqiong, NI Qi, ...
Chinese Journal of Evidence-Based Pediatrics 17 (3), 202, 2022
12022
Overcoming the pitfalls of NGS-based molecular diagnosis of Shwachman-Diamond syndrome
X Peng, X Dong, Y Wang, B Wu, H Wang, W Lu, F Xiao, L Yang, G Li, ...
medRxiv, 2021.08. 22.21262444, 2021
12021
Neurodevelopmental Outcomes Prediction in Newborns with Seizures Caused by KCNQ2 Gene Defects
Z Huang, B Liu, T Xiao, Y Wang, Y Lu, L Hu, G Cheng, Z Li, L Wang, ...
Neonatology 121 (2), 178-186, 2024
2024
Clinical and genetic risk factors associated with neonatal severe hyperbilirubinemia: a case–control study based on the China Neonatal Genomes Project
X Wang, T Xiao, J Wang, B Wu, H Wang, Y Lu, Y Wang, B Chen, L Hu, ...
Frontiers in Genetics 14, 1292921, 2024
2024
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