What is she best known for?
The fields of study she is best known for:
Carmen Ayuso mostly deals with Genetics, Mutation, Retinitis pigmentosa, Gene and Point mutation.
Usher syndrome, Frameshift mutation, Gene mapping, Locus and Familial exudative vitreoretinopathy are the subjects of her Genetics studies.
Her Mutation research focuses on Missense mutation in particular.
Her Missense mutation research includes themes of Mutation testing and Exon.
Her Retinitis pigmentosa course of study focuses on Genetic heterogeneity and Genetic marker, Sequence and Polymorphism.
Her Point mutation research is multidisciplinary, relying on both SOX9, Conserved sequence and Pathology.
Her most cited work include:
- OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes (382 citations)
- Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR (345 citations)
- Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa (309 citations)
What are the main themes of her work throughout her whole career to date?
Her primary scientific interests are in Genetics, Gene, Mutation, Retinitis pigmentosa and Missense mutation.
Her Allele, Exon, Haplotype, Genetic heterogeneity and Phenotype study are her primary interests in Genetics.
Her research in Gene tackles topics such as Mutation which are related to areas like Sendai virus, Reprogramming and KLF4.
Her study focuses on the intersection of Mutation and fields such as Molecular biology with connections in the field of Point mutation and Denaturing high performance liquid chromatography.
Carmen Ayuso combines subjects such as Retinal degeneration, PRPF31 and ABCA4 with her study of Retinitis pigmentosa.
The Missense mutation study combines topics in areas such as Gene mutation, Disease, Frameshift mutation and Null allele.
She most often published in these fields:
- Genetics (83.46%)
- Gene (29.32%)
- Mutation (29.32%)
What were the highlights of her more recent work (between 2017-2021)?
- Genetics (83.46%)
- Missense mutation (24.06%)
- Disease (12.03%)
In recent papers she was focusing on the following fields of study:
Genetics, Missense mutation, Disease, Gene and Aniridia are her primary areas of study.
Her Genetics study focuses mostly on Microphthalmia, Genetic analysis, Allele, Phenotype and Retinitis pigmentosa.
Her Missense mutation study is related to the wider topic of Mutation.
Her studies deal with areas such as Cohort, ABCA4 and Somatic cell as well as Disease.
Her Gene study frequently intersects with other fields, such as Mutation.
Her Reprogramming research incorporates elements of Molecular biology and Usher syndrome.
Between 2017 and 2021, her most popular works were:
- Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families (29 citations)
- Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly. (25 citations)
- Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly. (25 citations)
In her most recent research, the most cited papers focused on:
The scientist’s investigation covers issues in Genetics, Missense mutation, Vascular Disorder, Microphthalmia and Mutation.
Her Genetics study is mostly concerned with Gene, Proband, splice, Sanger sequencing and Compound heterozygosity.
Her work deals with themes such as Genetic analysis, Copy-number variation, Anophthalmia, PRPF31 and Gene mutation, which intersect with Missense mutation.
Her research on Vascular Disorder also deals with topics like
- Somatic cell and related Natural history, Pathology, Deep sequencing and Capillary malformation,
- Lymphatic system that intertwine with fields like Phenotype.
Her Microphthalmia study combines topics from a wide range of disciplines, such as Nonsense mutation, Genetic counseling, Aniridia and PAX6.
Her Mutation research includes elements of Cataracts, Coloboma, Eye development, Etiology and Sclerocornea.
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