What is he best known for?
The fields of study he is best known for:
The scientist’s investigation covers issues in Genetics, Facioscapulohumeral muscular dystrophy, DUX4, Muscular dystrophy and Subtelomere.
His work deals with themes such as Chromosome 4, Chromosome, Molecular biology, Allele and Gene silencing, which intersect with Facioscapulohumeral muscular dystrophy.
The subject of his DUX4 research is within the realm of Epigenetics.
His Epigenetics study combines topics in areas such as DNMT3B, DNA methylation, Pathology and Bioinformatics.
His study on Muscular dystrophy is covered under Internal medicine.
His Regulation of gene expression study incorporates themes from Myogenesis and Gene expression profiling.
His most cited work include:
- A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy (488 citations)
- Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 (386 citations)
- Facioscapulohumeral muscular dystrophy (323 citations)
What are the main themes of his work throughout his whole career to date?
Silvère M. van der Maarel focuses on Facioscapulohumeral muscular dystrophy, Genetics, DUX4, Muscular dystrophy and Molecular biology.
Silvère M. van der Maarel has included themes like Allele, Haplotype, Disease and Bioinformatics in his Facioscapulohumeral muscular dystrophy study.
His research on DUX4 concerns the broader Epigenetics.
Silvère M. van der Maarel focuses mostly in the field of Epigenetics, narrowing it down to topics relating to Epigenetic Repression and, in certain cases, Germline.
The Muscular dystrophy study combines topics in areas such as Phenotype, Dystrophy and Weakness.
Within one scientific family, he focuses on topics pertaining to Antibody under Molecular biology, and may sometimes address concerns connected to Neuromuscular junction and Acetylcholine receptor.
He most often published in these fields:
- Facioscapulohumeral muscular dystrophy (46.15%)
- Genetics (41.83%)
- DUX4 (32.69%)
What were the highlights of his more recent work (between 2018-2021)?
- Facioscapulohumeral muscular dystrophy (46.15%)
- DUX4 (32.69%)
- Muscular dystrophy (22.12%)
In recent papers he was focusing on the following fields of study:
His scientific interests lie mostly in Facioscapulohumeral muscular dystrophy, DUX4, Muscular dystrophy, Gene and Cell biology.
Internal medicine covers Silvère M. van der Maarel research in Facioscapulohumeral muscular dystrophy.
Epigenetics and Genetics are closely tied to his DUX4 research.
His study in the field of Phenotype, Locus, Chromosome 4 and Methylation is also linked to topics like Context.
Silvère M. van der Maarel combines subjects such as Reprogramming and MEDLINE with his study of Muscular dystrophy.
His Gene research integrates issues from Dystrophy and Bioinformatics.
Between 2018 and 2021, his most popular works were:
- MuSK myasthenia gravis monoclonal antibodies: Valency dictates pathogenicity. (29 citations)
- Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development (27 citations)
- Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. (17 citations)
In his most recent research, the most cited papers focused on:
His primary areas of investigation include DUX4, Facioscapulohumeral muscular dystrophy, Epigenetics, Muscular dystrophy and Genetics.
Silvère M. van der Maarel has researched DUX4 in several fields, including Exome sequencing, Missense mutation, Intronic Mutation, Chromosome 4 and Sanger sequencing.
His biological study spans a wide range of topics, including Cohort study, Oncology and DNA methylation.
His Epigenetics research incorporates elements of Chromatin, Transcriptome, Computational biology and Skeletal muscle.
His Muscular dystrophy research integrates issues from Gene expression profiling, Disease, Allele, Haplotype and Severity of illness.
His work on ATPase expands to the thematically related Genetics.
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