Miguel Barroso-Gil

发表

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

E. Molinari, H. Cordell, N. S. Thomas, 2022, Clinical genetics.

Molecular genetics of renal ciliopathies.

J. Sayer, E. Olinger, M. Barroso-Gil, 2021, Biochemical Society transactions.

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome.

Caitlin V. Miller, D. Nickerson, M. Bamshad, 2020, The Journal of clinical investigation.

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

E. Molinari, J. Sayer, S. Ramsbottom, 2021, Molecular genetics & genomic medicine.

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

J. Sayer, E. Olinger, I. Al Salmi, 2021, F1000Research.

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

J. Sayer, E. Olinger, I. Al Salmi, 2021, F1000Research.

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

E. Ballestar, N. Barbarroja, M. Martínez-Bueno, 2021, Scientific Reports.

Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndrome

J. Sayer, H. Mabillard, Ian Wilson, 2023, Journal of Rare Diseases.

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.

P. Harris, A. Ong, A. Mallett, 2020, Kidney international.

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

P. Trouvé, P. Harris, B. Knebelmann, 2022, American journal of human genetics.