What is he best known for?
The fields of study he is best known for:
- Gene
- Mutation
- Internal medicine
His scientific interests lie mostly in Genetics, Mutation, Internal medicine, Missense mutation and Endocrinology.
Gene, Genetic heterogeneity, Mitochondrial DNA, Frameshift mutation and Mutant are among the areas of Genetics where the researcher is concentrating his efforts.
His Mutation research is multidisciplinary, incorporating elements of Protein subunit, Respiratory chain, Microcephaly and Encephalopathy.
His studies deal with areas such as Proband, Sleep onset and Smith–Magenis syndrome as well as Internal medicine.
His Missense mutation research includes elements of Penetrance and Proto-Oncogene Proteins c-ret.
His Endocrinology study combines topics in areas such as Neonatal onset, Ataxia, Pediatrics and Epilepsy.
His most cited work include:
- Lamin a truncation in hutchinson-gilford progeria (1073 citations)
- Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. (850 citations)
- X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. (660 citations)
What are the main themes of his work throughout his whole career to date?
His main research concerns Genetics, Gene, Internal medicine, Endocrinology and Mutation.
His Genetics study frequently draws connections between related disciplines such as Molecular biology.
He is interested in Exon, which is a branch of Gene.
His Internal medicine study incorporates themes from Gastroenterology and Pathology.
His biological study spans a wide range of topics, including Respiratory chain and Mitochondrial DNA.
His Locus research is multidisciplinary, relying on both Allele, Haplotype, Genetic linkage and Gene mapping.
He most often published in these fields:
- Genetics (57.80%)
- Gene (20.63%)
- Internal medicine (18.41%)
What were the highlights of his more recent work (between 2013-2021)?
- Genetics (57.80%)
- Missense mutation (15.47%)
- Gene (20.63%)
In recent papers he was focusing on the following fields of study:
His primary scientific interests are in Genetics, Missense mutation, Gene, Exome sequencing and Intellectual disability.
Mitochondrial DNA, Sanger sequencing, Compound heterozygosity, Phenotype and Mutation are the core of his Genetics study.
His Missense mutation research integrates issues from Endocrinology, Bioinformatics, Internal medicine, X-inactivation and Epilepsy.
He has researched Gene in several fields, including Molecular biology and Cell biology.
The study incorporates disciplines such as Genetic heterogeneity and Proband in addition to Exome sequencing.
His Intellectual disability course of study focuses on Pediatrics and Genetic counseling, Ataxia and Disease.
Between 2013 and 2021, his most popular works were:
- Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy (83 citations)
- Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy (83 citations)
- A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium (82 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
The scientist’s investigation covers issues in Genetics, Exome sequencing, Mutation, Gene and Missense mutation.
His works in Cilium, Ciliopathies, Microcephaly, Mitochondrial DNA and Phenotype are all subjects of inquiry into Genetics.
His Exome sequencing research also works with subjects such as
- Compound heterozygosity and related ACO2, Respiratory enzyme, Nuclear gene, Optic neuropathy and Frameshift mutation,
- Sanger sequencing which intersects with area such as Proband and Molecular biology,
- mitochondrial fusion that connect with fields like MT-RNR1 and Heteroplasmy.
Arnold Munnich has included themes like Endothelin receptor, Endothelin receptor type A, Endothelin 1, Medical genetics and Internal medicine in his Mutation study.
His work on Mitochondrial disease, Novel mutation and X-inactivation as part of general Gene research is frequently linked to Large group, thereby connecting diverse disciplines of science.
His Missense mutation research includes themes of MED12, Founder effect, Point mutation, Signal transduction and Genetic heterogeneity.
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