What is he best known for?
The fields of study he is best known for:
Peter De Jonghe mainly focuses on Genetics, Mutation, Epilepsy, Missense mutation and Dravet syndrome.
His study in Genetics concentrates on Gene, Gene duplication, Genetic heterogeneity, Haploinsufficiency and Chromosome.
Peter De Jonghe interconnects Hereditary sensory and autonomic neuropathy, Epilepsy syndromes, Neuroscience and Hereditary spastic paraplegia in the investigation of issues within Mutation.
His work deals with themes such as Endocrinology, Bioinformatics, Intellectual disability, Internal medicine and Pediatrics, which intersect with Epilepsy.
In his study, which falls under the umbrella issue of Missense mutation, Haplotype is strongly linked to Molecular biology.
The concepts of his Dravet syndrome study are interwoven with issues in SCN1B and Myoclonic epilepsy.
His most cited work include:
- A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study (486 citations)
- Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. (219 citations)
- Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. (217 citations)
What are the main themes of his work throughout his whole career to date?
Peter De Jonghe mostly deals with Genetics, Mutation, Gene, Epilepsy and Pathology.
As part of his studies on Genetics, he frequently links adjacent subjects like Bioinformatics.
His Mutation study also includes fields such as
- Internal medicine that connect with fields like Oncology,
- Ataxia that intertwine with fields like Myoclonus.
His study explores the link between Epilepsy and topics such as Pediatrics that cross with problems in Age of onset.
His Missense mutation study combines topics from a wide range of disciplines, such as Molecular biology and Frameshift mutation.
The Amyotrophic lateral sclerosis study combines topics in areas such as C9orf72 and Frontotemporal lobar degeneration.
He most often published in these fields:
- Genetics (50.40%)
- Mutation (23.79%)
- Gene (20.56%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (50.40%)
- Missense mutation (17.74%)
- Pathology (22.58%)
In recent papers he was focusing on the following fields of study:
Genetics, Missense mutation, Pathology, Epilepsy and Gene are his primary areas of study.
His study in Phenotype, Exome sequencing, Mutation, Exome and Candidate gene is carried out as part of his studies in Genetics.
His Mutation research is multidisciplinary, incorporating elements of Ataxia and Cerebellar ataxia.
His study in Missense mutation is interdisciplinary in nature, drawing from both Aminoacylation, Transfer RNA, Amyotrophic lateral sclerosis and Cohort.
His research integrates issues of Bioinformatics, Intellectual disability, Genetic heterogeneity, Genetic testing and Disease Association in his study of Epilepsy.
His studies in Gene integrate themes in fields like Computational biology and Disease.
Between 2015 and 2021, his most popular works were:
- Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. (219 citations)
- Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies (140 citations)
- STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy (131 citations)
In his most recent research, the most cited papers focused on:
His main research concerns Genetics, Epilepsy, Missense mutation, Mutation and Exome sequencing.
His study in Gene, Phenotype and Frameshift mutation are all subfields of Genetics.
His Epilepsy study also includes
- Pediatrics and related Genetic heterogeneity, Ohtahara syndrome, Age of onset, Seizure types and Proband,
- Bioinformatics and related Neurodegeneration.
His biological study spans a wide range of topics, including C9orf72, Frontotemporal dementia, Trinucleotide repeat expansion, Amyotrophic lateral sclerosis and Intellectual disability.
His Mutation research incorporates elements of Ataxia and Cerebellar ataxia.
In his research, Synaptic vesicle endocytosis, Endocrinology, Polyphosphoinositide Phosphatase and Heterozygote advantage is intimately related to Compound heterozygosity, which falls under the overarching field of Exome sequencing.
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