Carmen Ayuso - Genetic Mutations

Author Information

Carmen Ayuso is a distinguished researcher affiliated with the Department of Genetics at the Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM) in Madrid, Spain. Additionally, she is associated with the Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. Her extensive work in the field of genetics, particularly in the areas of inherited diseases and genetic mutations, has significantly advanced our understanding of these complex topics.

Research Contributions

Carmen Ayuso has made substantial contributions to the field of genetics through her research on inherited macular dystrophies, the impact of genetic mutations in diseases such as SARS-CoV-2, and the genotype-phenotype correlations in various syndromes. Her 2022 publications cover a broad range of topics, from the genetic underpinnings of macular dystrophies in Spanish families to the molecular delineation of KBG syndrome, and the implications of SARS-CoV-2 mutations on disease outcomes and vaccine efficacy. Her work is pivotal in unraveling the genetic basis of these conditions and has significant implications for genetic screening and personalized medicine.

Aliases

Carmen Ayuso is also known by several aliases including C Ayuso, C. Ayuso, and Carme Ayuso.

Publication and Citation Metrics

Citation Count	25,183
h-index	74
Paper Count	581

Publications:

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

DOI: 10.1167/iovs.63.2.11

Year: 2022

SARS-CoV-2 Point Mutation and Deletion Spectra and Their Association with Different Disease Outcomes

DOI: 10.1128/spectrum.00221-22

Year: 2022

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

DOI:

Year: 2022

First evidence of SOX2 mutations in Peters' anomaly: lessons from molecular screening of 95 patients.

DOI: 10.1111/cge.14123

Year: 2022

Vaccine-breakthrough infections with SARS-CoV-2 Alpha mirror mutations in Delta Plus, Iota and Omicron.

DOI: 10.1172/JCI157700

Year: 2022

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.

DOI: 10.1002/humu.24371

Year: 2022

Reliability of extracellular contrast vs. gadoxetic acid in assessing small liver lesions using LI-RADS v.2018 and EASL criteria.

DOI: 10.1002/hep.32494

Year: 2022

Prevalence, multimodal imaging and genotype-phenotype assessment of trauma related subretinal fibrosis in stargardt disease.

DOI: 10.1177/11206721221093986

Year: 2022

Androgen receptor polyQ alleles and COVID-19 severity in men: a replication study

DOI: 10.1101/2022.03.25.22271678

Year: 2022

SARS-CoV-2 Point Mutation and Deletion Spectra, and Their Association with Different Disease Outcome

DOI: 10.1101/2022.01.10.475768

Year: 2022

Why is Karyotyping Important in the Context of Genetic Mutations?

What is CRISPR-Cas9?

How is Hemoglobin Electrophoresis Used in Clinical Practice?

What is the Impact of Missense Mutations?

What Are Chromosomal Mutations?

What Are Developmental Disorders?

Can Beneficial Mutations Be Induced?

Can inherited genetic mutations be treated?

How is Hemophilia Inherited?

What Types of Mutations Are Induced by UV Radiation?

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