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Browsing publications by
Miguel Barroso Gil.
Newcastle Authors
Title
Year
Full text
Dr Eric Olinger
Dr Ian Wilson
Sarah Orr
Miguel Barroso Gil
Ruxandra Neatu
et al.
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
2024
Dr Eric Olinger
Sotia Iosifidou
Miguel Barroso Gil
Ruxandra Neatu
Dr Katrina Wood
et al.
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data
2024
Laura Devlin
Miguel Barroso Gil
Ruxandra Neatu
Laura Powell
Dr Emanuela Molinari
et al.
Biallelic variants in
CEP164
cause a motile ciliopathy-like syndrome
2022
Professor John Sayer
Dr Eric Olinger
Miguel Barroso Gil
Monoallelic pathogenic
ALG5
variants cause atypical polycystic kidney disease and interstitial fibrosis
2022
Dr Eric Olinger
Dr Elisa Molinari
Miguel Barroso Gil
Laura Powell
Dr Colin Miles
et al.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families
2021
Laura Powell
Dr Eric Olinger
Dr Sarah Rice
Miguel Barroso Gil
Ian Wilson
et al.
Identification of
LAMA1
mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome
2021
Miguel Barroso Gil
Dr Eric Olinger
Professor John Sayer
Molecular genetics of renal ciliopathies
2021
Intisar Al Alawi
Miguel Barroso Gil
Laura Powell
Dr Eric Olinger
Professor John Sayer
et al.
The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients
2021
Miguel Barroso Gil
Dr Eric Olinger
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Colin Miles
et al.
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
2021
Laura Powell
Miguel Barroso Gil
Dr Gavin Clowry
Laura Devlin
Dr Elisa Molinari
et al.
Expression patterns of ciliopathy genes
ARL3
and
CEP120
reveal roles in multisystem development
2020
Miguel Barroso Gil
Laura Powell
Professor John Sayer
RE: Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders
2020