What is he best known for?
The fields of study he is best known for:
His main research concerns Genetics, Molecular biology, Gene, Cell biology and Allele. His Genetics research focuses on Locus, X chromosome, Trinucleotide repeat expansion, Fragile X syndrome and Spinocerebellar ataxia. He interconnects Hybridization probe, Point mutation, Ciliopathy, Zebrafish and Gene mapping in the investigation of issues within Locus.
The Molecular biology study combines topics in areas such as Gene expression, X-linked myotubular myopathy, DNA, Expression vector and Alternative splicing. His studies deal with areas such as Peroxisome, Neurite, Biochemistry and Translation as well as Cell biology. His Allele research incorporates themes from Ataxia, Genetic linkage and Myotonic dystrophy.
His most cited work include:
- Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion (2181 citations)
- Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome (1295 citations)
- Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters (964 citations)
What are the main themes of his work throughout his whole career to date?
Genetics, Gene, Molecular biology, X chromosome and Fragile X syndrome are his primary areas of study. His study in Locus, Genetic linkage, Gene mapping, Mutation and Missense mutation are all subfields of Genetics. His research in Mutation intersects with topics in Phenotype and Bardet–Biedl syndrome.
His studies in Missense mutation integrate themes in fields like Genetic heterogeneity and Point mutation. His Molecular biology study incorporates themes from RNA, Biochemistry, DNA and Gene expression. His Fragile X syndrome research is multidisciplinary, incorporating elements of Fragile x, Allele, FMR1, Mutation and Chromosomal fragile site.
He most often published in these fields:
- Genetics (68.09%)
- Gene (26.13%)
- Molecular biology (25.13%)
What were the highlights of his more recent work (between 2009-2021)?
- Genetics (68.09%)
- Mutation (13.82%)
- Gene (26.13%)
In recent papers he was focusing on the following fields of study:
Jean-Louis Mandel mostly deals with Genetics, Mutation, Gene, Genetic heterogeneity and Missense mutation. His study in Bardet–Biedl syndrome, Intellectual disability, BBS1, Molecular genetics and Phenotype is carried out as part of his studies in Genetics. The various areas that Jean-Louis Mandel examines in his Mutation study include Hypotonia, Molecular biology, Bioinformatics and Dynamin.
His Gene research integrates issues from Genetic counseling and Computational biology. His Missense mutation research integrates issues from Neurodevelopmental disorder, Disease gene identification and Cellular localization. His study looks at the relationship between Indel and fields such as Diabetes mellitus, as well as how they intersect with chemical problems.
Between 2009 and 2021, his most popular works were:
- A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 (426 citations)
- XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing (186 citations)
- XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing (186 citations)
In his most recent research, the most cited papers focused on:
Jean-Louis Mandel spends much of his time researching Genetics, Gene, Genetic heterogeneity, Intellectual disability and BBS1. In most of his Genetics studies, his work intersects topics such as Congenital myopathy. His work in Gene covers topics such as Genetic counseling which are related to areas like Diabetes mellitus genetics, Diabetes mellitus, Sanger sequencing, Computational biology and Locus.
His biological study spans a wide range of topics, including Autism and FMR1. The concepts of his BBS1 study are interwoven with issues in Molecular genetics, Joubert syndrome, Alström syndrome and Genetic testing. His Exome sequencing research is multidisciplinary, relying on both X-linked intellectual disability, Gene panel and X chromosome.
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