Colin G. Miles

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 28 publications

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.

Journal: Clinical science (London, England : 1979)

Published: January 22, 2025

An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division.

An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division.

Journal: The EMBO journal

Published: November 22, 2023

Human prostate organoid generation and the identification of prostate development drivers using inductive rodent tissues.

Human prostate organoid generation and the identification of prostate development drivers using inductive rodent tissues.

Journal: Development (Cambridge, England)

Published: October 13, 2022

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

Journal: Clinical genetics

Published: July 28, 2022

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.

Journal: American journal of human genetics

Published: December 23, 2021

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.

Journal: Human mutation

Published: February 15, 2021

ESC 2019 guidelines on chronic coronary syndromes: could calcium scoring improve detection of coronary artery disease in patients with low risk score. Findings from a retrospective cohort of patients in a district general hospital.

ESC 2019 guidelines on chronic coronary syndromes: could calcium scoring improve detection of coronary artery disease in patients with low risk score. Findings from a retrospective cohort of patients in a district general hospital.

Journal: JRSM cardiovascular disease

Published: November 08, 2020

Increased hippocampal excitability in miR-324-null mice.

Increased hippocampal excitability in miR-324-null mice.

Journal: Scientific reports

Published: September 18, 2020

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.

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.

Journal: Molecular genetics & genomic medicine

Published: September 02, 2020

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.

Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.

Journal: BMC developmental biology

Published: July 27, 2020

microRNA-seq of cartilage reveals an overabundance of miR-140-3p which contains functional isomiRs.

microRNA-seq of cartilage reveals an overabundance of miR-140-3p which contains functional isomiRs.

Journal: RNA (New York, N.Y.)

Published: February 20, 2020

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: December 28, 2019

Showing 1-12 of 28

Last Updated: 09/26/2026