Baoheng Gui
Guangxi Medical University(CN)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomics and Rare Diseases, Mitochondrial Function and Pathology, Hemoglobinopathies and Related Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Biparental Inheritance of Mitochondrial DNA in Humans(2018)445 cited
- → Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis(2019)140 cited
- → A prospective study of non-invasive preimplantation genetic testing for aneuploidies (NiPGT-A) using next-generation sequencing (NGS) on spent culture media (SCM)(2019)91 cited
- → Long-Molecule Sequencing(2020)80 cited
- → Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy(2017)53 cited
- → Novel pathogenic ACAN variants in non-syndromic short stature patients(2017)41 cited
- → Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature(2021)39 cited
- → Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients(2016)33 cited
- → New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype–phenotype profiling of SRD5A2 in 190 Chinese patients(2019)25 cited
- → Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?(2017)21 cited