Carmen Ayuso at Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Research Interests, Publications & Academic Profile

Carmen Ayuso

University Name

Spain

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Research Interests

Epidemiology

30%

Biostatistics

40%

Medical Science

90%

Retinal Disease

60%

Birth Defect

40%

Rare Disease

40%

Next-generation Sequencing

30%

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Articles14

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort

Article Link

Year:

2024

Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene

Article Link

Year:

2024

Clinical and Genetic Analysis of Patients With TK2 Deficiency

Article Link

Year:

2024

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

Article Link

Year:

2024

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks

Article Link

Year:

2023

Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in <i>CHD3</i> and Literature Review

Article Link

Year:

2023

Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

Article Link

Year:

2023

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

Article Link

Year:

2023

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

Article Link

Year:

2023

Prioritization of New Candidate Genes for Rare Genetic Diseases by a Disease-Aware Evaluation of Heterogeneous Molecular Networks

Article Link

Year:

2023

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

Article Link

Year:

2023

Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia

Article Link

Year:

2023

Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

Article Link

Year:

2023

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

Article Link

Year:

2023

Collaborators8

María Palomares-Bralo

Associate professor

Universidad Rey Juan Carlos - Campus de Fuenlabrada

SPAIN

Elfride De Baere

BELGIUM

Manuela Morleo

Assistant Professor

University of Campania “Luigi Vanvitelli”

ITALY

M. ESTHER GALLARDO PEREZ

Miguel Servet II Researcher; Head of the Traslational Research with iPS Cells Group

Instituto de Investigación Hospital 12 de Octubre

SPAIN

Pablo Minguez

Instituto de Investigación Sanitaria La Fe

SPAIN

Petra Liskova

Charles University in Prague

CZECH REPUBLIC

Saoud Tahsin Swafiri Swafiri

Profesor asociado

Universidad Francisco de Vitoria

SPAIN

Susan M. Downes

Oxford University Hospitals NHS Foundation Trust

UNITED KINGDOM

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