Emma J. Ashton - Publications

A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: October 28, 2024

Two Brothers from Macedonia with Gitelman Syndrome.

Journal: Balkan journal of medical genetics : BJMG

Published: August 14, 2023

Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

Journal: European journal of human genetics : EJHG

Published: January 31, 2023

Machine Learning to Identify Genetic Salt-Losing Tubulopathies in Hypokalemic Patients.

Journal: Kidney international reports

Published: October 03, 2022

Guidelines for Genetic Testing and Management of Alport Syndrome.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: December 21, 2021

Mendelian steroid resistant nephrotic syndrome in childhood: is it as common as reported?

Journal: Pediatric nephrology (Berlin, Germany)

Published: December 19, 2021

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.

Journal: BMJ (Clinical research ed.)

Published: November 04, 2021

Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.

Journal: Pediatric nephrology (Berlin, Germany)

Published: August 05, 2021

Erratum: Long-term outcome in inherited nephrogenic diabetes insipidus.

Journal: Clinical kidney journal

Published: January 04, 2021

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.

Journal: Frontiers in cellular neuroscience

Published: July 21, 2020

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.

Journal: European journal of human genetics : EJHG

Published: July 16, 2020

Inherited Renal Tubulopathies-Challenges and Controversies.

Journal: Genes

Published: February 11, 2020