Publication & Citation Trends
Most Cited Works
Publications
26 total
Cross-Sectional Study on the Gut Microbiome of Parkinson’s Disease Patients in Central China PDF
Cited by 40
OpenAlex
Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China PDF
Cited by 5
OpenAlex
Panel-based NGS reveals disease-causing mutations in hearing loss patients using BGISEQ-500 platform PDF
Cited by 21
OpenAlex
Novel missense variant in TTN cosegregating with familial atrioventricular block
Cited by 15
OpenAlex
Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report PDF
Cited by 11
OpenAlex
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study PDF
Cited by 22
OpenAlex
Targeted next‐generation sequencing identifies nine novel filaggrin gene variants in Chinese Han patients with ichthyosis vulgaris
Cited by 6
OpenAlex
Two Novel Mutations in the C-Terminal Region of Centrosomal Protein 290 (<i>CEP290</i>) Result in Classic Joubert Syndrome
Cited by 7
OpenAlex
Research Topics
Genomic variations and chromosomal abnormalities
(6)
Genomics and Rare Diseases
(5)
Biofuel production and bioconversion
(4)
Enzyme Production and Characterization
(4)
Prenatal Screening and Diagnostics
(3)
Frequent Co-Authors
Affiliations
BGI Group (China)
Wuhan College
Botswana Geoscience Institute
BGI Genomics
Hubei University