Celia A. Farrier-Duff - 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

Recommendations for clinical interpretation of variants found in non-coding regions of the genome.

Journal: Genome medicine

Published: February 09, 2022

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 21, 2020

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 09, 2018

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.

Journal: American journal of medical genetics. Part A

Published: October 26, 2017

A splice-site variant in ANKRD11 associated with classical KBG syndrome.

Journal: American journal of medical genetics. Part A

Published: January 26, 2017

Evidence for different, host-dependent functioning of Rx against both wild-type and recombinant Pepino mosaic virus.

Journal: Molecular plant pathology

Published: March 20, 2015

A pathogenicity determinant maps to the N-terminal coat protein region of the Pepino mosaic virus genome.

Journal: Molecular plant pathology

Published: August 19, 2014