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Page 1
Perils of predictive testing for unaffected people from motor neuron disease families with no identified causal gene.
Mcneill A, Douglas AGL, Macleod R, Lahiri N; UK PREDICTIVE NEUROGENETICS TESTING CONSORTIUM. Mcneill A, et al. Among authors: douglas agl. Amyotroph Lateral Scler Frontotemporal Degener. 2025 May;26(3-4):352-353. doi: 10.1080/21678421.2024.2438153. Epub 2024 Dec 9. Amyotroph Lateral Scler Frontotemporal Degener. 2025. PMID: 39648759 No abstract available.
Predicting the impact of rare variants on RNA splicing in CAGI6.
Lord J, Oquendo CJ, Wai HA, Douglas AGL, Bunyan DJ, Wang Y, Hu Z, Zeng Z, Danis D, Katsonis P, Williams A, Lichtarge O, Chang Y, Bagnall RD, Mount SM, Matthiasardottir B, Lin C, Hansen TVO, Leman R, Martins A, Houdayer C, Krieger S, Bakolitsa C, Peng Y, Kamandula A, Radivojac P, Baralle D. Lord J, et al. Among authors: douglas agl. Hum Genet. 2025 Mar;144(2-3):243-251. doi: 10.1007/s00439-023-02624-3. Epub 2024 Jan 3. Hum Genet. 2025. PMID: 38170232 Free PMC article.
49 results