What is he best known for?
The fields of study he is best known for:
- Gene
- Mutation
- Internal medicine
His primary areas of investigation include Genetics, Mutation, Locus, Candidate gene and Missense mutation.
His work on Genetics is being expanded to include thematically relevant topics such as Molecular biology.
He combines subjects such as Methylation, DNA methylation, Pathogenesis, Weill–Marchesani syndrome and Short stature with his study of Mutation.
His work carried out in the field of Locus brings together such families of science as Bardet–Biedl syndrome, Oligogenic Inheritance, Zebrafish and Haplotype.
His studies in Candidate gene integrate themes in fields like Nonsense mutation, Chromosome 21, Chromosomal Abnormality and Gene mapping.
His Missense mutation study also includes
- Endocrinology and related Protein subunit,
- Internal medicine that connect with fields like Genetic linkage and Coloboma.
His most cited work include:
- Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. (563 citations)
- Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism (312 citations)
- Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. (248 citations)
What are the main themes of his work throughout his whole career to date?
Genetics, Short stature, Internal medicine, Mutation and Gene are his primary areas of study.
His research related to Missense mutation, Locus, Consanguinity, Genetic heterogeneity and Disease gene identification might be considered part of Genetics.
The concepts of his Locus study are interwoven with issues in Gene mapping, Haplotype and Candidate gene.
His Short stature study deals with Microcephaly intersecting with Exome sequencing.
His Internal medicine research is multidisciplinary, incorporating elements of Endocrinology and Pathology.
His Gene study often links to related topics such as Molecular biology.
He most often published in these fields:
- Genetics (52.03%)
- Short stature (13.55%)
- Internal medicine (12.47%)
What were the highlights of his more recent work (between 2014-2020)?
- Genetics (52.03%)
- Exome sequencing (6.50%)
- Missense mutation (11.11%)
In recent papers he was focusing on the following fields of study:
The scientist’s investigation covers issues in Genetics, Exome sequencing, Missense mutation, Internal medicine and Gene.
His study in Human genetics, Consanguinity, Sanger sequencing, Whole genome sequencing and Ciliopathies is done as part of Genetics.
His Whole genome sequencing study integrates concerns from other disciplines, such as Mutation and Proband.
His research integrates issues of Genetic heterogeneity, Microcephaly and Short stature in his study of Exome sequencing.
André Mégarbané has included themes like Endocrinology, Oncology, Mutation and Pathology in his Internal medicine study.
His Gene research incorporates elements of Pediatrics and Epilepsy.
Between 2014 and 2020, his most popular works were:
- Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation (171 citations)
- Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production (156 citations)
- The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. (100 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
André Mégarbané mostly deals with Genetics, Missense mutation, Human genetics, Internal medicine and Intellectual disability.
His study connects Family history and Genetics.
His Missense mutation study combines topics from a wide range of disciplines, such as Molecular biology, PSMA3, PSMB8 and Proteasome.
His Human genetics research includes themes of Phenotype, Disease and Bioinformatics.
The various areas that he examines in his Internal medicine study include Exome sequencing, Endocrinology and Single-nucleotide polymorphism.
His work in Intellectual disability tackles topics such as Cohort which are related to areas like Genetic heterogeneity.
This overview was generated by a machine learning system which analysed the scientist’s
body of work. If you have any feedback, you can
contact us
here.
