Miguel Barroso-Gil

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 3

Top Topics

Top Venues

Molecular genetics & genomic medicine

Annals of human genetics

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Sarah Orr, Eric Olinger, Sotia Iosifidou, Miguel Barroso-Gil, Ruxandra Neatu, Katrina Wood, Ian Wilson, null null, John Andrew Sayer
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data. Annals of human genetics (2023)
Laura A Devlin, Janice Coles, Claire L Jackson, Miguel Barroso-Gil, Ben Green, Woolf T Walker, N Simon Thomas, James Thompson, Simon A Rock, Ruxandra Neatu, Laura Powell, Elisa Molinari, null null, Ian J Wilson, Heather J Cordell, Eric Olinger, Colin G Miles, John Andrew Sayer, Gabrielle Wheway, Jane S A Lucas
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome. Clinical genetics (2022)
Miguel Barroso-Gil, Eric Olinger, Simon A Rock, Elisa Molinari, Colin G Miles, John Andrew Sayer
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. Molecular genetics & genomic medicine (2021)