Miguel Barroso-Gil
4PUBLICATIONS
42CO-AUTHORS
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Publications (4)
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|Feb 03, 2025
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.Tabinda Jawaid, Doaa E Elbarougy, Sravanthi Lavu
|Apr 12, 2023
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.Sarah Orr, Eric Olinger, Sotia Iosifidou
|Oct 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.Laura A Devlin, Janice Coles, Claire L Jackson
|Jan 24, 2021
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.Miguel Barroso-Gil, Eric Olinger, Simon A Ramsbottom
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Frequent Collaborators
4 joint publications
Eric Olinger
4 joint publications
John Andrew Sayer
2 joint publications
Simon A Rock
2 joint publications
Ruxandra Neatu
2 joint publications
Sarah Orr
1 joint publications
Elisa Molinari
1 joint publications
Laura A Devlin
1 joint publications
N Simon Thomas
1 joint publications
James Thompson
1 joint publications
Heather J Cordell
