What is she best known for?
The fields of study she is best known for:
Her main research concerns Genetics, Mutation, Gene, Missense mutation and Internal medicine.
Her study in Haploinsufficiency, Proto-Oncogene Proteins c-ret, Candidate gene, Penetrance and Genome-wide association study is carried out as part of her Genetics studies.
In her work, Endothelin 3 and Hirschsprung's disease is strongly intertwined with Neurocristopathy, which is a subfield of Penetrance.
Her research in Mutation intersects with topics in Enzyme, Optic disk and Congenital central hypoventilation syndrome.
Her Missense mutation research is multidisciplinary, incorporating elements of Heterozygote advantage, Encephalopathy and Frameshift mutation.
Her Internal medicine research incorporates elements of Endocrinology, Low birth weight and Overgrowth syndrome.
Her most cited work include:
- Lamin a truncation in hutchinson-gilford progeria (1073 citations)
- Hirschsprung disease, associated syndromes and genetics: a review (898 citations)
- SOX10 mutations in patients with Waardenburg-Hirschsprung disease. (684 citations)
What are the main themes of her work throughout her whole career to date?
Jeanne Amiel mostly deals with Genetics, Internal medicine, Missense mutation, Phenotype and Mutation.
Her Genetics study is mostly concerned with Gene, Haploinsufficiency, Allele, Exome sequencing and Microcephaly.
Her primary area of study in Gene is in the field of Candidate gene.
Jeanne Amiel focuses mostly in the field of Internal medicine, narrowing it down to topics relating to Endocrinology and, in certain cases, Congenital central hypoventilation syndrome.
Her Phenotype study typically links adjacent topics like Craniofacial.
Mutation and Pathology are commonly linked in her work.
She most often published in these fields:
- Genetics (71.54%)
- Internal medicine (30.26%)
- Missense mutation (27.66%)
What were the highlights of her more recent work (between 2016-2021)?
- Genetics (71.54%)
- Missense mutation (27.66%)
- Phenotype (25.25%)
In recent papers she was focusing on the following fields of study:
Jeanne Amiel mainly investigates Genetics, Missense mutation, Phenotype, Mutation and Intellectual disability.
Her study involves Allele, Haploinsufficiency, Exome sequencing, Loss function and Point mutation, a branch of Genetics.
Missense mutation is a subfield of Gene that she studies.
Her Phenotype research includes themes of Bioinformatics, Zebrafish, Gene knockdown and Pathology.
Her Mutation study integrates concerns from other disciplines, such as Endocrinology, Facioscapulohumeral muscular dystrophy, Chromatin, Microcephaly and Epigenetics.
Her Intellectual disability study also includes fields such as
- Exon and related Cerebellar vermis, Perisylvian polymicrogyria and Proband,
- Craniofacial which connect with Rare disease.
Between 2016 and 2021, her most popular works were:
- Targeted therapy in patients with PIK3CA-related overgrowth syndrome (142 citations)
- Targeted therapy in patients with PIK3CA-related overgrowth syndrome (142 citations)
- NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation (62 citations)
In her most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Her primary areas of investigation include Genetics, Mutation, Allele, Phenotype and Missense mutation.
Her Genetics study focuses mostly on Chromatin, Pulmonary hypoplasia, Hypotonia, Candidate gene and Sanger sequencing.
Her study in Mutation is interdisciplinary in nature, drawing from both Prenatal diagnosis, Endocrinology, Epigenetics and Internal medicine.
Her Allele study incorporates themes from Retinal degeneration, Fryns syndrome, Brachydactyly and Retinitis pigmentosa.
Her work on Exome sequencing as part of general Phenotype research is frequently linked to Histone acetyltransferase complex, bridging the gap between disciplines.
Her Missense mutation study introduces a deeper knowledge of Gene.
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