Miguel Barroso-Gil

Laboratory teacher (profesor colaborador doctor de prácticas de laboratorio)

Universidad CEU San Pablo

Spain

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Articles (10)

Year:

2024

Year:

2023

Year:

2023

Year:

2022

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Year:

2021

Collaborators (9)

James Thompson

University of Southampton

UNITED KINGDOM

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Nieves Yaquelin Varela Hernández

Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica

SPAIN

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Naif A. M. Almontashiri

SAUDI ARABIA

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John Sayer

Professor of Renal Medicine

Newcastle University

UNITED KINGDOM

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MA Aguirre

Instituto Maimónides de Investigación Biomédica de Córdoba

SPAIN

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Emilie CORNEC-LE GALL

Professor of Nephrology

Université de Bretagne Occidentale

FRANCE

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Sarah Rice

Newcastle University

UNITED KINGDOM

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Ian Wilson

Lecturer in Statistical Genetics

Newcastle University

UNITED KINGDOM

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Tim @timjph Hubbard

King’s College London

UNITED KINGDOM

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Miguel Barroso-Gil

Research Interests

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Articles (10)

Copy number analysis from genome sequencing data of 11,754 rare disease parent-child trios: a model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

Integrative epigenomics in Sjögren´s syndrome reveals novel pathways and a strong interaction between the HLA, autoantibodies and the interferon signature.

Identification of <i>LAMA1</i> mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

Molecular genetics of renal ciliopathies

The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies

Collaborators (9)

James Thompson

Nieves Yaquelin Varela Hernández

Naif A. M. Almontashiri

John Sayer

MA Aguirre

Emilie CORNEC-LE GALL

Sarah Rice

Ian Wilson

Tim @timjph Hubbard

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