What is she best known for?
The fields of study she is best known for:
- Mutation
- Gene
- Internal medicine
Valérie Cormier-Daire mostly deals with Genetics, Mutation, Gene, Frameshift mutation and Missense mutation.
Valérie Cormier-Daire combines subjects such as Molecular biology and Short stature with her study of Genetics.
She has included themes like Endocrinology, Phenotype, Ciliopathy, Intellectual disability and Internal medicine in her Mutation study.
In her study, Proband is inextricably linked to Genotype, which falls within the broad field of Phenotype.
Her Internal medicine research incorporates themes from Haploinsufficiency and Scoliosis.
Her Missense mutation study combines topics from a wide range of disciplines, such as Sotos syndrome, Genetic predisposition and Bioinformatics.
Her most cited work include:
- Nosology and classification of genetic skeletal disorders : 2010 revision (539 citations)
- Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells (367 citations)
- Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells (367 citations)
What are the main themes of her work throughout her whole career to date?
Her primary areas of study are Genetics, Mutation, Internal medicine, Pediatrics and Dysplasia.
Her work on Short stature expands to the thematically related Genetics.
Her Mutation study incorporates themes from Molecular biology, Pathology and Exon.
Her work carried out in the field of Internal medicine brings together such families of science as Gastroenterology, Endocrinology and Respiratory chain.
Her studies deal with areas such as Acromicric dysplasia and Anatomy as well as Dysplasia.
She studies Exome sequencing, focusing on Exome in particular.
She most often published in these fields:
- Genetics (53.41%)
- Mutation (21.08%)
- Internal medicine (15.86%)
What were the highlights of her more recent work (between 2018-2021)?
- Genetics (53.41%)
- Pediatrics (14.86%)
- Missense mutation (14.86%)
In recent papers she was focusing on the following fields of study:
Valérie Cormier-Daire mainly focuses on Genetics, Pediatrics, Missense mutation, Dysplasia and Phenotype.
Her Gene, Proband, Sanger sequencing, Exon and Intellectual disability investigations are all subjects of Genetics research.
The concepts of her Pediatrics study are interwoven with issues in Airway obstruction, Acromicric dysplasia, Sleep apnea, Disease and Obstructive sleep apnea.
The various areas that Valérie Cormier-Daire examines in her Missense mutation study include Cilium, Centriole, Intraflagellar transport and Germline.
Valérie Cormier-Daire interconnects Achondroplasia, Spondyloepimetaphyseal dysplasia and Short stature in the investigation of issues within Dysplasia.
As a part of the same scientific family, Valérie Cormier-Daire mostly works in the field of Short stature, focusing on Exome sequencing and, on occasion, Internal medicine, Pathology and Genetic heterogeneity.
Between 2018 and 2021, her most popular works were:
- Nosology and classification of genetic skeletal disorders: 2019 revision. (126 citations)
- C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia (45 citations)
- Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions. (45 citations)
In her most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Her primary scientific interests are in Cell biology, Missense mutation, Haploinsufficiency, Intellectual disability and Genetics.
Valérie Cormier-Daire combines topics linked to Intraflagellar transport with her work on Cell biology.
Her research in Missense mutation intersects with topics in Cilium, Ciliopathies, Centriole and Ciliopathy.
Her Haploinsufficiency research includes elements of Mucocutaneous zone, MAPK8, Connective tissue, Connective Tissue Disorder and Chronic mucocutaneous candidiasis.
Her biological study spans a wide range of topics, including Proband, Craniofacial and Exon.
Valérie Cormier-Daire integrates many fields, such as Genetics and H3K4me3, in her works.
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