What is he best known for?
The fields of study he is best known for:
- Gene
- Mutation
- Internal medicine
His primary scientific interests are in Genetics, Mutation, Pathology, Atrophy and Mitochondrion.
His study in Locus, Missense mutation, Mitochondrial DNA, BBS12 and Allele falls under the purview of Genetics.
His research in Mitochondrial DNA intersects with topics in Phenotype and Optic neuropathy.
His biological study spans a wide range of topics, including Molecular biology, Alström syndrome, Neuroscience and Clinical significance.
Dominique Bonneau has researched Neuroscience in several fields, including Point mutation and MFN2.
The study incorporates disciplines such as Endocrinology, Visual acuity and Optic nerve in addition to Atrophy.
His most cited work include:
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. (774 citations)
- Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome (467 citations)
- OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes (382 citations)
What are the main themes of his work throughout his whole career to date?
His primary areas of investigation include Genetics, Mutation, Pathology, Gene and Atrophy.
His work in Locus, Genetic heterogeneity, Missense mutation, Phenotype and Mitochondrial DNA is related to Genetics.
His Locus research focuses on Gene mapping and how it relates to Genetic linkage.
The Mutation study combines topics in areas such as Molecular biology, Mitochondrion and Exon.
His Mitochondrion study incorporates themes from Oxidative phosphorylation, Neuroscience and Retinal ganglion.
Dominique Bonneau has included themes like Optic Atrophy 1 and Optic nerve in his Atrophy study.
He most often published in these fields:
- Genetics (41.35%)
- Mutation (19.73%)
- Pathology (15.95%)
What were the highlights of his more recent work (between 2017-2021)?
- Genetics (41.35%)
- Gene (15.14%)
- Missense mutation (7.57%)
In recent papers he was focusing on the following fields of study:
Dominique Bonneau mainly focuses on Genetics, Gene, Missense mutation, Cell biology and Intellectual disability.
His study in DNA sequencing, Phenotype, RNA splicing, Proband and Exome sequencing is done as part of Genetics.
His Gene study combines topics from a wide range of disciplines, such as Proteostasis and Computational biology.
His research integrates issues of Neurodevelopmental disorder, Speech delay, Cerebellar hypoplasia and Ventriculomegaly in his study of Missense mutation.
His study on TFAM is often connected to Proinflammatory cytokine, Nicotinamide riboside and Premature aging as part of broader study in Cell biology.
His Intellectual disability research incorporates elements of Human genetics, Hypotonia, Pediatrics, Craniofacial and Epilepsy.
Between 2017 and 2021, his most popular works were:
- AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders (40 citations)
- Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing (27 citations)
- Nicotinamide Deficiency in Primary Open-Angle Glaucoma. (20 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Dominique Bonneau mainly investigates Gene, DNA sequencing, Genetics, Biochemistry and Metabolomics.
His DNA sequencing research is multidisciplinary, incorporating elements of Proband and Mitochondrial DNA, Heteroplasmy, Mitochondrial disease.
His study in Mitochondrial DNA is interdisciplinary in nature, drawing from both Phenotype, Computational biology, Genotype and Breakpoint.
Genetics is closely attributed to Nosology in his research.
His work in the fields of Spermidine, Metabolome, Hypoxanthine and OMIM : Online Mendelian Inheritance in Man overlaps with other areas such as Phosphocholine.
The various areas that Dominique Bonneau examines in his Metabolomics study include Optic Atrophy 1, Purine metabolism, Inosine and Atrophy.
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