Hua F. Wang

NO.53 Xiangchun Road
Changsha, 410008, China

Last Updated: 09/26/2026

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Found 99 publications

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Integrating LNA-qPCR and full-length SMN1 sequencing for precision SMA carrier screening: large-scale validation in 30,849 individuals.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: July 08, 2026

Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.

Expert consensus on the combined screening of genes and biomarkers for neonatal diseases.

Journal: World journal of pediatrics : WJP

Published: July 07, 2025

AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases.

AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases.

Journal: Journal of medical genetics

Published: April 29, 2025

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 14, 2025

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

Caregiver burden and associated factors among primary caregivers of children with congenital disorders: a comparative cross-sectional study in Hunan Province, China.

Caregiver burden and associated factors among primary caregivers of children with congenital disorders: a comparative cross-sectional study in Hunan Province, China.

Journal: BMC nursing

Published: December 23, 2024

Mossy fiber expression of αSMA in human hippocampus and its relevance to brain evolution and neuronal development.

Mossy fiber expression of αSMA in human hippocampus and its relevance to brain evolution and neuronal development.

Journal: Scientific reports

Published: November 20, 2024

Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome.

Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome.

Journal: Journal of genetics and genomics = Yi chuan xue bao

Published: October 29, 2024

CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.

CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.

Journal: EMBO molecular medicine

Published: October 28, 2024

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

Journal: The Journal of clinical investigation

Published: August 20, 2024

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Journal: Innovation (Cambridge (Mass.))

Published: July 11, 2024

Familial pancreatitis associated with a splice-site variant in CPA1.

Familial pancreatitis associated with a splice-site variant in CPA1.

Journal: Gut

Published: May 10, 2024

Showing 1-12 of 99

Last Updated: 09/26/2026