Publications by Miguel Barroso Gil - ePrints

Browsing publications by Miguel Barroso Gil.

Newcastle Authors	Title	Year
Dr Eric Olinger Miguel Barroso Gil Ruxandra Neatu Professor John Sayer	Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants	2025
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