What is she best known for?
The fields of study she is best known for:
- Gene
- Mutation
- Internal medicine
The scientist’s investigation covers issues in Genetics, Mutation, Gene, Missense mutation and Phenotype.
Her research on Genetics frequently connects to adjacent areas such as Bioinformatics.
Annick Toutain combines subjects such as Molecular genetics, Cell signaling, Homeostasis and Genotype with her study of Mutation.
Her study explores the link between Missense mutation and topics such as Short stature that cross with problems in Skewed X-inactivation, X-inactivation, Frameshift mutation, Polycystic kidney disease and Hypoplasia.
The concepts of her Phenotype study are interwoven with issues in Sensorineural hearing loss, Mitochondrion and SOX10.
As a part of the same scientific study, Annick Toutain usually deals with the Locus, concentrating on Meckel syndrome and frequently concerns with Compound heterozygosity.
Her most cited work include:
- Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism (312 citations)
- SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) (295 citations)
- Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation (253 citations)
What are the main themes of her work throughout her whole career to date?
Her primary areas of investigation include Genetics, Gene, Phenotype, Mutation and Pathology.
Genetics is a component of her Missense mutation, Intellectual disability, Exon, Locus and Candidate gene studies.
Her studies link Compound heterozygosity with Missense mutation.
Her work deals with themes such as Corpus callosum, Autism, Bioinformatics and Microcephaly, which intersect with Intellectual disability.
Her study in X chromosome and Chromosome are all subfields of Gene.
Her Mutation study frequently draws parallels with other fields, such as Genotype.
She most often published in these fields:
- Genetics (52.04%)
- Gene (20.07%)
- Phenotype (16.73%)
What were the highlights of her more recent work (between 2017-2021)?
- Genetics (52.04%)
- Phenotype (16.73%)
- Gene (20.07%)
In recent papers she was focusing on the following fields of study:
Her scientific interests lie mostly in Genetics, Phenotype, Gene, Missense mutation and Intellectual disability.
As part of her studies on Genetics, Annick Toutain often connects relevant subjects like Nosology.
The various areas that Annick Toutain examines in her Phenotype study include Histone, Dissection and Epilepsy.
Her study looks at the relationship between Gene and fields such as Autism spectrum disorder, as well as how they intersect with chemical problems.
The Missense mutation study combines topics in areas such as Nonsense, Coding region, Molecular biology, Cell biology and Spondyloepimetaphyseal dysplasia.
Her Intellectual disability study combines topics from a wide range of disciplines, such as Bioinformatics, Neurite, Neurodevelopmental disorder, Craniofacial and Gene isoform.
Between 2017 and 2021, her most popular works were:
- Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. (36 citations)
- Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. (30 citations)
- Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. (28 citations)
In her most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Her primary areas of study are Genetics, Phenotype, Missense mutation, Gene and Candidate gene.
Annick Toutain incorporates Genetics and Small nuclear RNA in her research.
Her Phenotype study integrates concerns from other disciplines, such as Epileptic spasms and Functional studies.
Her research investigates the connection with Missense mutation and areas like Genotype which intersect with concerns in Overgrowth syndrome, Nonsense mutation, Coding region, Frameshift mutation and Simpson–Golabi–Behmel syndrome.
Her Transcription, Histone, Chromatin and Gene expression study in the realm of Gene interacts with subjects such as Histone acetyltransferase complex.
Her Candidate gene study also includes
- Consanguinity which intersects with area such as Oculomotor apraxia, Genetic heterogeneity, BRAT1 and Cerebellar ataxia,
- Ataxia and related Exome, Internal medicine and Gene mutation.
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