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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14.
Mov Disord. 2024.
PMID: 37964426
Free PMC article.
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Blakes AJM, Wai HA, Davies I, Moledina HE, Ruiz A, Thomas T, Bunyan D, Thomas NS, Burren CP, Greenhalgh L, Lees M, Pichini A, Smithson SF, Taylor Tavares AL, O'Donovan P, Douglas AGL; Genomics England Research Consortium, Splicing and Disease Working Group; Whiffin N, Baralle D, Lord J.
Blakes AJM, et al.
Genome Med. 2022 Jul 26;14(1):79. doi: 10.1186/s13073-022-01087-x.
Genome Med. 2022.
PMID: 35883178
Free PMC article.
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A homozygous GRIN1 null variant causes a more severe phenotype of early infantile epileptic encephalopathy.
Blakes AJM, English J, Banka S, Basu H.
Blakes AJM, et al.
Am J Med Genet A. 2022 Feb;188(2):595-599. doi: 10.1002/ajmg.a.62528. Epub 2021 Oct 6.
Am J Med Genet A. 2022.
PMID: 34611970
Review.
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Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.
Blakes AJM, Gaul E, Lam W, Shannon N, Knapp KM, Bicknell LS, Jackson MR, Wade EM, Robertson S, White SM, Heller R, Chase A, Baralle D, Douglas AGL.
Blakes AJM, et al.
Eur J Hum Genet. 2021 Apr;29(4):593-603. doi: 10.1038/s41431-020-00766-w. Epub 2020 Nov 22.
Eur J Hum Genet. 2021.
PMID: 33223528
Free PMC article.
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Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC, Blakes AJM, Dawes R, Findlay SD, Lord J, Walker S, Talbot-Martin J, Wieder N, D'Souza EN, Fernandes M, Hilton S, Lahiri N, Campbell C, Jenkinson S, DeGoede CGEL, Anderson ER, Burge CB, Sanders SJ, Ellingford J, Baralle D, Banka S, Whiffin N.
Martin-Geary AC, et al. Among authors: blakes ajm.
medRxiv [Preprint]. 2023 Sep 12:2023.09.12.23295416. doi: 10.1101/2023.09.12.23295416.
medRxiv. 2023.
PMID: 37745552
Free PMC article.
Preprint.
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