What is she best known for?
The fields of study she is best known for:
Her scientific interests lie mostly in Genetics, Mutation, Connexin, Genetic linkage and Allele.
Her Palmoplantar keratoderma study in the realm of Genetics interacts with subjects such as Gene dosage.
Her biological study spans a wide range of topics, including Tumoral calcinosis and Pathology.
The various areas that she examines in her Connexin study include Anatomy, Function and Second messenger system.
The concepts of her Allele study are interwoven with issues in Actin, Nemaline myopathy, Skeletal muscle and Myosin.
Her study in the fields of Frameshift mutation under the domain of Gene overlaps with other disciplines such as Autosomal dominant hypophosphatemic rickets and Gene mapping.
Her most cited work include:
- Mutations in GALNT3 , encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis (453 citations)
- Clinical application of whole-exome sequencing across clinical indications. (441 citations)
- Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009 (440 citations)
What are the main themes of her work throughout her whole career to date?
Gabriele Richard focuses on Genetics, Pathology, Mutation, Missense mutation and Connexin.
Her research related to Gene, Palmoplantar keratoderma, Phenotype, Epidermolysis bullosa and Mitochondrial disease might be considered part of Genetics.
The study incorporates disciplines such as Oculodentodigital dysplasia, Fetus and Allele in addition to Pathology.
Gabriele Richard combines subjects such as Erythrokeratodermia variabilis, Genetic heterogeneity, Tumoral calcinosis and Internal medicine with her study of Mutation.
She has included themes like Genodermatosis, Endocrinology, Compound heterozygosity and Mutation in her Missense mutation study.
Her work in the fields of Connexin, such as Keratitis–ichthyosis–deafness syndrome, overlaps with other areas such as Immunostaining.
She most often published in these fields:
- Genetics (50.00%)
- Pathology (30.70%)
- Mutation (24.56%)
What were the highlights of her more recent work (between 2015-2021)?
- Exome sequencing (8.77%)
- Genetics (50.00%)
- Proband (3.51%)
In recent papers she was focusing on the following fields of study:
Gabriele Richard spends much of her time researching Exome sequencing, Genetics, Proband, Genetic testing and Computational biology.
When carried out as part of a general Exome sequencing research project, her work on Exome is frequently linked to work in Specialty board and Board certification, therefore connecting diverse disciplines of study.
Gabriele Richard merges many fields, such as Genetics and Identification, in her writings.
Her research investigates the connection between Genetic testing and topics such as Allele frequency that intersect with issues in Molecular diagnostics.
Mutation covers Gabriele Richard research in Missense mutation.
Her Candidate gene study also includes
- Genetic heterogeneity which is related to area like Internal medicine,
- Pregnancy which is related to area like Pathology.
Between 2015 and 2021, her most popular works were:
- Clinical application of whole-exome sequencing across clinical indications. (441 citations)
- Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel (153 citations)
- Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. (82 citations)
In her most recent research, the most cited papers focused on:
Exome sequencing, Genetic testing, Medical genetics, Proband and Candidate gene are her primary areas of study.
Her Genetic testing research is multidisciplinary, relying on both CDKL5, MECP2 and Allele frequency.
Her work investigates the relationship between Medical genetics and topics such as Genetic heterogeneity that intersect with problems in Internal medicine.
Her Internal medicine research includes elements of Gene and Epilepsy.
Her Proband research is classified as research in Genetics.
The Candidate gene study combines topics in areas such as Pregnancy, Prenatal diagnosis, Etiology, Pathology and Exome.
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