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1. Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project

3. Novel Variants of the 'SMARCA4' Gene Associated with Autistic Features Rather than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients

6. Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project

17. Genetic Architecture of Childhood Kidney and Urological Diseases in China

18. Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype–Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.

19. Early diagnosis of WT1 nephropathy and follow up in a Chinese multicenter cohort

24. Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort

39. Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients

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

44. Aetiology and outcomes of prolonged neonatal jaundice in tertiary centres: data from the China Neonatal Genome Project

45. WDR62 variants contribute to congenital heart disease by inhibiting cardiomyocyte proliferation

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

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