What is he best known for?
The fields of study he is best known for:
His primary areas of study are Exome sequencing, Exome, Cell biology, Genetics and Kinase.
His Exome sequencing study incorporates themes from Mendelian inheritance, Bioinformatics, Allele, Pediatrics and Genetic testing.
His studies deal with areas such as Genetic disorder, Internal medicine and Medical genetics as well as Allele.
His Exome research incorporates elements of Proband and Disease, Pathology.
His work on Phenotype, Gene and Mitochondrial Membrane Protein as part of general Genetics research is frequently linked to Non-allelic homologous recombination and MFN2, thereby connecting diverse disciplines of science.
His research integrates issues of GTPase, Mitosis, Phosphorylation and Polo-like kinase in his study of Kinase.
His most cited work include:
- Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (1343 citations)
- Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing (861 citations)
- Mst1 and Mst2 maintain hepatocyte quiescence and suppress hepatocellular carcinoma development through inactivation of the Yap1 oncogene. (634 citations)
What are the main themes of his work throughout his whole career to date?
Fan Xia focuses on Genetics, Exome sequencing, Intellectual disability, Exome and Missense mutation.
Phenotype, Neurodevelopmental disorder, Gene, Hypotonia and Allele are the core of his Genetics study.
His Allele study deals with Disease intersecting with Genetic testing and Human Phenotype Ontology.
Fan Xia has included themes like Proband, Bioinformatics, Copy-number variation, Microcephaly and Human genetics in his Exome sequencing study.
His Proband study integrates concerns from other disciplines, such as Genetic counseling and Pathology.
His Exome research includes elements of Computational biology, Pediatrics, Compound heterozygosity and Candidate gene.
He most often published in these fields:
- Genetics (102.48%)
- Exome sequencing (59.50%)
- Intellectual disability (37.19%)
What were the highlights of his more recent work (between 2018-2021)?
- Genetics (102.48%)
- Exome sequencing (59.50%)
- Intellectual disability (37.19%)
In recent papers he was focusing on the following fields of study:
His primary scientific interests are in Genetics, Exome sequencing, Intellectual disability, Gene and Missense mutation.
His study on Phenotype, Mendelian inheritance and Loss of function mutation is often connected to Cell-free fetal DNA and NAA15 as part of broader study in Genetics.
His research in Exome sequencing is mostly concerned with Exome.
His work carried out in the field of Intellectual disability brings together such families of science as Hypotonia, Haploinsufficiency, Proband and Loss function.
Fan Xia interconnects Protein subunit, Frameshift mutation and Epilepsy in the investigation of issues within Missense mutation.
His Allele research integrates issues from Disease and Human genetics.
Between 2018 and 2021, his most popular works were:
- Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA (69 citations)
- Reanalysis of Clinical Exome Sequencing Data (58 citations)
- Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases (20 citations)
In his most recent research, the most cited papers focused on:
Fan Xia mostly deals with Exome sequencing, Genetics, Allele, Exome and Gene.
His Exome sequencing research includes themes of Computational biology, Postsynaptic potential, Proband and Sequence.
Fan Xia is studying Frameshift mutation, which is a component of Genetics.
Fan Xia has included themes like Missense mutation and Microphthalmia in his Allele study.
The study incorporates disciplines such as Structural variation, Copy-number variation, Compound heterozygosity and Single-nucleotide polymorphism, Runs of Homozygosity in addition to Exome.
His work in the fields of Gene, such as Human genetics, overlaps with other areas such as CpG site, Mosaic and Diagnostic test.
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