A novel, dominant disease mechanism of distal renal tubular acidosis with specific variants in ATP6V1B1
Marguerite Hureaux, Emma Ashton, Francesca Becherucci, Marcus R. Benz et autres
3 citationsNephrology Dialysis Transplantation
Celia Duff‐Farrier
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12Publications signalées
465Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesPlant Virus Research StudiesPlant-Microbe Interactions and ImmunityCancer-related gene regulation
Publications récentes
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle et autres
274 citationsGenome Medicine
Additional file 1 of Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle et autres
0 citationsFigshare
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle et autres
15 citationsmedRxiv
APOE gene testing in FH referrals – the story so far
Celia Duff‐Farrier, M. Pennock, E. Watson, Natalie Forrester et autres
0 citationsAtherosclerosis Plus
Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler et autres
0 citationsGenetics in Medicine
Strategies for the Construction of Cassava Brown Streak Disease Viral Infectious Clones
Celia Duff‐Farrier, Deusdedith R. Mbanzibwa, Sarah Nanyiti, Hamidun Bunawan et autres
13 citationsMolecular Biotechnology
KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants
Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler et autres
112 citationsGenetics in Medicine
Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient
Josh Willoughby, Celia Duff‐Farrier, Archana Desurkar, Manju A. Kurian et autres
7 citationsAmerican Journal of Medical Genetics Part A
A splice‐site variant in ANKRD11 associated with classical KBG syndrome
Karen Low, Alison Hills, Maggie Williams, Celia Duff‐Farrier et autres
8 citationsAmerican Journal of Medical Genetics Part A
Evidence for different, host‐dependent functioning of Rx against both wild‐type and recombinant Pepino mosaic virus
Celia Duff‐Farrier, Thierry Candresse, Andy M. Bailey, Neil Boonham et autres
12 citationsMolecular Plant Pathology
A pathogenicity determinant maps to the N ‐terminal coat protein region of the P epino mosaic virus genome
Celia Duff‐Farrier, Andy M. Bailey, Neil Boonham, Gary D. Foster
21 citationsMolecular Plant Pathology
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