What is he best known for?
The fields of study he is best known for:
His main research concerns Genetics, Genetic linkage, Locus, Linkage and Pedigree chart.
As part of his studies on Genetics, Jean-Louis Blouin often connects relevant subjects like Kartagener Syndrome.
His research investigates the link between Genetic linkage and topics such as Gene mapping that cross with problems in Chromosome 21.
The study incorporates disciplines such as Autosomal dominant trait and Locus heterogeneity in addition to Locus.
His Pedigree chart study integrates concerns from other disciplines, such as Genetic marker, Microsatellite and Chromosome.
His work carried out in the field of Genome Scan brings together such families of science as Susceptibility locus, Dinucleotide Repeat, Susceptibility gene, Lod score and Sib pairs.
His most cited work include:
- Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part II: Schizophrenia (1047 citations)
- Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. (536 citations)
- Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21 (517 citations)
What are the main themes of his work throughout his whole career to date?
His primary areas of study are Genetics, Genetic linkage, Locus, Gene and Gene mapping.
His research in Chromosome 21, Chromosome, Cilium, Allele and Genetic marker are components of Genetics.
His Genetic linkage research includes themes of Pedigree chart, Genome Scan, Genetic heterogeneity, Linkage and Haplotype.
His studies deal with areas such as Susceptibility locus, Dinucleotide Repeat, Susceptibility gene, Lod score and Sib pairs as well as Genome Scan.
His work on Positional cloning as part of general Locus research is often related to Population, thus linking different fields of science.
He has included themes like Gene duplication, Chromosome 22, Contig and Loss of heterozygosity in his Gene mapping study.
He most often published in these fields:
- Genetics (70.40%)
- Genetic linkage (18.40%)
- Locus (16.00%)
What were the highlights of his more recent work (between 2017-2021)?
- Diabetes mellitus (11.20%)
- Exome sequencing (8.00%)
- Internal medicine (10.40%)
In recent papers he was focusing on the following fields of study:
Jean-Louis Blouin mainly investigates Diabetes mellitus, Exome sequencing, Internal medicine, Candidate gene and Genetics.
His Diabetes mellitus study incorporates themes from Insulin, Lung, Exome and Bioinformatics.
His studies deal with areas such as Missense mutation, Diabetes mellitus genetics, Index case and FOXA2 as well as Exome sequencing.
His research integrates issues of Gastroenterology, HNF1A and ABCC8 in his study of Internal medicine.
The various areas that Jean-Louis Blouin examines in his Candidate gene study include Monogenic Diabetes, Quality of life and Metabolic control analysis.
Compound heterozygosity, Allele, Locus, Exon and Pseudogene are the subjects of his Genetics studies.
Between 2017 and 2021, his most popular works were:
- Circulating tumoral DNA: Preanalytical validation and quality control in a diagnostic laboratory (46 citations)
- Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother (6 citations)
- Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes (3 citations)
In his most recent research, the most cited papers focused on:
The scientist’s investigation covers issues in Bioinformatics, Index case, Neonatal hypoglycemia, Exome and Diabetes mellitus.
Jean-Louis Blouin has researched Bioinformatics in several fields, including genomic DNA, DNA and Amplicon.
His research in Index case intersects with topics in Exome sequencing, Missense mutation, Diabetes mellitus genetics and FOXA2.
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