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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24.
Genet Med. 2019.
PMID: 30245513
Free PMC article.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R.
Kennedy J, et al. Among authors: duff farrier c.
Genet Med. 2020 Nov;22(11):1920. doi: 10.1038/s41436-020-00944-7.
Genet Med. 2020.
PMID: 32814847
Free article.
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A splice-site variant in ANKRD11 associated with classical KBG syndrome.
Low KJ, Hills A, Williams M, Duff-Farrier C, McKee S, Smithson SF.
Low KJ, et al. Among authors: duff farrier c.
Am J Med Genet A. 2017 Oct;173(10):2844-2846. doi: 10.1002/ajmg.a.38397. Epub 2017 Aug 17.
Am J Med Genet A. 2017.
PMID: 28815928
No abstract available.
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Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.
Willoughby J, Duff-Farrier C, Desurkar A, Kurian M, Raghavan A; DDD Study; Balasubramanian M.
Willoughby J, et al. Among authors: duff farrier c.
Am J Med Genet A. 2018 May;176(5):1049-1054. doi: 10.1002/ajmg.a.38656.
Am J Med Genet A. 2018.
PMID: 29681108
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Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N.
Ellingford JM, et al. Among authors: duff farrier c.
Genome Med. 2022 Jul 19;14(1):73. doi: 10.1186/s13073-022-01073-3.
Genome Med. 2022.
PMID: 35850704
Free PMC article.
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A pathogenicity determinant maps to the N-terminal coat protein region of the Pepino mosaic virus genome.
Duff-Farrier CR, Bailey AM, Boonham N, Foster GD.
Duff-Farrier CR, et al.
Mol Plant Pathol. 2015 Apr;16(3):308-15. doi: 10.1111/mpp.12184. Epub 2014 Oct 9.
Mol Plant Pathol. 2015.
PMID: 25131553
Free PMC article.
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Evidence for different, host-dependent functioning of Rx against both wild-type and recombinant Pepino mosaic virus.
Duff-Farrier CR, Candresse T, Bailey AM, Boonham N, Foster GD.
Duff-Farrier CR, et al.
Mol Plant Pathol. 2016 Jan;17(1):120-6. doi: 10.1111/mpp.12256. Epub 2015 May 12.
Mol Plant Pathol. 2016.
PMID: 25787776
Free PMC article.
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Strategies for the Construction of Cassava Brown Streak Disease Viral Infectious Clones.
Duff-Farrier CRA, Mbanzibwa DR, Nanyiti S, Bunawan H, Pablo-Rodriguez JL, Tomlinson KR, James AM, Alicai T, Seal SE, Bailey AM, Foster GD.
Duff-Farrier CRA, et al.
Mol Biotechnol. 2019 Feb;61(2):93-101. doi: 10.1007/s12033-018-0139-7.
Mol Biotechnol. 2019.
PMID: 30484144
Free PMC article.
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