What is she best known for?
The fields of study she is best known for:
Her primary areas of investigation include Genetics, Mutation, Frameshift mutation, Cilium and Exome sequencing.
Her research related to Gene, Microcephaly, Ciliopathies, Locus and Microphthalmia might be considered part of Genetics.
In her research on the topic of Locus, Comparative genomic hybridization is strongly related with Candidate gene.
Christel Thauvin-Robinet interconnects Phenotype, Age of onset and Exon in the investigation of issues within Mutation.
Her Exome sequencing research integrates issues from Intellectual disability, Ictal, Arachnodactyly, Subclinical infection and Pediatrics.
Her Missense mutation research incorporates themes from Camptodactyly, Molecular biology, Amyotrophic lateral sclerosis and Genotype.
Her most cited work include:
- SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations (222 citations)
- A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease (160 citations)
- KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes (160 citations)
What are the main themes of her work throughout her whole career to date?
The scientist’s investigation covers issues in Genetics, Exome sequencing, Intellectual disability, Gene and Pediatrics.
Her research links Bioinformatics with Genetics.
The various areas that Christel Thauvin-Robinet examines in her Bioinformatics study include Genetic counseling and Haploinsufficiency.
Her Exome sequencing research is multidisciplinary, incorporating perspectives in Genetic heterogeneity, Compound heterozygosity, Cohort and Candidate gene.
Her Intellectual disability study combines topics in areas such as Autism, Proband and Marfanoid.
Christel Thauvin-Robinet combines subjects such as Genotype and Pathology with her study of Phenotype.
She most often published in these fields:
- Genetics (48.05%)
- Exome sequencing (18.75%)
- Intellectual disability (16.02%)
What were the highlights of her more recent work (between 2019-2021)?
- Genetics (48.05%)
- Intellectual disability (16.02%)
- Exome sequencing (18.75%)
In recent papers she was focusing on the following fields of study:
Christel Thauvin-Robinet mainly focuses on Genetics, Intellectual disability, Exome sequencing, Phenotype and Missense mutation.
Her Genetics study is mostly concerned with Candidate gene and Genetic heterogeneity.
Her Intellectual disability research is multidisciplinary, incorporating elements of Proband, X-linked intellectual disability, Autism, Short stature and Human genetics.
She interconnects Reverse transcriptase, Compound heterozygosity and Clinical significance in the investigation of issues within Exome sequencing.
Her work in Phenotype addresses issues such as Fetus, which are connected to fields such as Pathology and Medical genetics.
Her Missense mutation study integrates concerns from other disciplines, such as Protein kinase B, Bioinformatics, Noonan syndrome, Microcephaly and Macrocephaly.
Between 2019 and 2021, her most popular works were:
- Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (27 citations)
- Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization (11 citations)
- Kosaki overgrowth syndrome: a novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications (8 citations)
In her most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Her scientific interests lie mostly in Genetics, Missense mutation, Intellectual disability, Genetic heterogeneity and Exome sequencing.
Her study in Genetics focuses on Candidate gene in particular.
In her research, Mutation, Haploinsufficiency, Corpus Callosum Agenesis, Neuroscience and Gene duplication is intimately related to Microcephaly, which falls under the overarching field of Missense mutation.
Her studies deal with areas such as Phenotype, Proband and Short stature as well as Intellectual disability.
Her Genetic heterogeneity study incorporates themes from Fetus, Fetal Presentation, Endocardial fibroelastosis and Medical genetics.
The concepts of her Exome sequencing study are interwoven with issues in Compound heterozygosity and Macrocephaly.
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