What is he best known for?
The fields of study he is best known for:
Hubert J.M. Smeets mostly deals with Genetics, Mutation, Alport syndrome, Endocrinology and Internal medicine.
Many of his studies on Genetics apply to Molecular biology as well.
His Mutation research incorporates elements of Gene duplication, Holoprosencephaly and Cytochrome b, Mitochondrial DNA.
His research brings together the fields of Missense mutation and Alport syndrome.
His Endocrinology study combines topics in areas such as QT interval, Long QT syndrome and Sudden cardiac death.
In the subject of general Internal medicine, his work in Physical exercise, Insulin resistance and Skeletal muscle is often linked to Context, thereby combining diverse domains of study.
His most cited work include:
- Identification of Mutations in the Alpha-3(iv) and Alpha-4(iv) Collagen Genes in Autosomal Recessive Alport Syndrome (420 citations)
- X-linked Alport Syndrome Natural History in 195 Families and Genotype- Phenotype Correlations in Males (355 citations)
- X-Linked Alport Syndrome: Natural History and Genotype-Phenotype Correlations in Girls and Women Belonging to 195 Families: A "European Community Alport Syndrome Concerted Action" study (283 citations)
What are the main themes of his work throughout his whole career to date?
Hubert J.M. Smeets mainly focuses on Genetics, Mitochondrial DNA, Mutation, Internal medicine and Molecular biology.
His study in Gene, Genetic marker, Preimplantation genetic diagnosis, Locus and Mutation falls within the category of Genetics.
Hubert J.M. Smeets has researched Mitochondrial DNA in several fields, including Embryo, Mitochondrion and Point mutation.
Hubert J.M. Smeets usually deals with Mutation and limits it to topics linked to Alport syndrome and Glomerular basement membrane.
His Internal medicine research is multidisciplinary, relying on both Endocrinology, Cardiology, Single-nucleotide polymorphism, Genotype and Type 2 diabetes.
His Molecular biology research incorporates elements of DNA sequencing and Exon.
He most often published in these fields:
- Genetics (56.94%)
- Mitochondrial DNA (26.85%)
- Mutation (26.85%)
What were the highlights of his more recent work (between 2013-2021)?
- Mitochondrial DNA (26.85%)
- Genetics (56.94%)
- Mutation (26.85%)
In recent papers he was focusing on the following fields of study:
His primary scientific interests are in Mitochondrial DNA, Genetics, Mutation, Mitochondrial disease and Internal medicine.
His Mitochondrial DNA research also works with subjects such as
- Morphant which intersects with area such as Embryo,
- Gene knockdown which connect with Mitochondrion.
His work is connected to Preimplantation genetic diagnosis, Gene, Mutation, Exome sequencing and Population bottleneck, as a part of Genetics.
His work on Point mutation and Missense mutation as part of general Mutation research is frequently linked to Dorsal root ganglion and Pain disorder, bridging the gap between disciplines.
Hubert J.M. Smeets has researched Internal medicine in several fields, including Gastroenterology, Endocrinology and Oncology.
In his research on the topic of Endocrinology, External ophthalmoplegia is strongly related with Mitochondrial myopathy.
Between 2013 and 2021, his most popular works were:
- How do changes in the mtDNA and mitochondrial dysfunction influence cancer and cancer therapy? Challenges, opportunities and models. (114 citations)
- Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options (55 citations)
- Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers (42 citations)
In his most recent research, the most cited papers focused on:
Hubert J.M. Smeets spends much of his time researching Genetics, Mutation, Mitochondrial DNA, Point mutation and Mitochondrial disease.
Much of his study explores Genetics relationship to Hypertrophic cardiomyopathy.
His work deals with themes such as Endocrinology, Exercise intolerance and Internal medicine, Muscle weakness, which intersect with Mutation.
His Mitochondrial DNA research integrates issues from Population bottleneck and Mitochondrial respiratory chain.
His study in Point mutation is interdisciplinary in nature, drawing from both Prenatal diagnosis and Preimplantation genetic diagnosis.
As a part of the same scientific study, Hubert J.M. Smeets usually deals with the Mitochondrial disease, concentrating on Genetic heterogeneity and frequently concerns with Exome sequencing, Nuclear gene, DNA sequencing and Peripheral neuropathy.
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