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List of works by Huijun Wang

COQ8B nephropathy: Early detection and optimal treatment

scientific article published on 16 June 2020

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort

scientific article published on 31 January 2020

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly

scientific article published on 22 October 2019

Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants

scientific article published on 05 May 2020

Early-onset infant epileptic encephalopathy associated with a de novo gene mutation

article

First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant

scientific article published on 27 January 2020

Genetic aetiology of early infant deaths in a neonatal intensive care unit

scientific article published on 09 September 2019

Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project

scientific article published in 2022

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report

scientific article published on 12 February 2020

Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria

scientific article published on 10 March 2020

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