Yaqiong Wang

Shanghai, 201102, China

Last Updated: 09/26/2026

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Found 10 publications

Expert consensus on clinical genome sequencing interpretation and reporting.

Expert consensus on clinical genome sequencing interpretation and reporting.

Journal: Yi chuan = Hereditas

Published: March 11, 2025

Clinical and genetic risk factors associated with neonatal severe hyperbilirubinemia: a case-control study based on the China Neonatal Genomes Project.

Clinical and genetic risk factors associated with neonatal severe hyperbilirubinemia: a case-control study based on the China Neonatal Genomes Project.

Journal: Frontiers in genetics

Published: September 12, 2023

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Journal: medRxiv : the preprint server for health sciences

Published: August 14, 2023

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Journal: Human genomics

Published: August 11, 2023

Predicting the impact of rare variants on RNA splicing in CAGI6.

Predicting the impact of rare variants on RNA splicing in CAGI6.

Journal: Human genetics

Published: June 15, 2023

Neurodevelopmental Outcomes Prediction in Newborns with Seizures Caused by KCNQ2 Gene Defects.

Neurodevelopmental Outcomes Prediction in Newborns with Seizures Caused by KCNQ2 Gene Defects.

Journal: Neonatology

Published: March 28, 2023

Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay.

Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay.

Journal: Frontiers in pediatrics

Published: June 30, 2022

In the developing cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes.

In the developing cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes.

Journal: Pediatric research

Published: April 27, 2022

Overcoming the Pitfalls of Next-Generation Sequencing-Based Molecular Diagnosis of Shwachman-Diamond Syndrome.

Overcoming the Pitfalls of Next-Generation Sequencing-Based Molecular Diagnosis of Shwachman-Diamond Syndrome.

Journal: The Journal of molecular diagnostics : JMD

Published: December 06, 2021

Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.

Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.

Journal: Molecular genetics & genomic medicine

Published: May 29, 2021

Showing 1-10 of 10

Last Updated: 09/26/2026