-
Dias, K-R, Shrestha, R, Schofield, D, Evans, C-A, O'Heir, E, Zhu, Y, Zhang, F, Standen, K, Weisburd, B, Stenton, SL, et al.
Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort.
Genetics in Medicine
101076
2024
view publication
-
Downie, L, Bouffler, SE, Amor, DJ, Christodoulou, J, Yeung, A, Horton, AE, Macciocca, I, Archibald, AD, Wall, M, Caruana, J, et al.
Gene selection for genomic newborn screening: moving towards consensus?.
Genetics in Medicine
101077
2024
view publication
-
Turbitt, E, Callinan, E, Shakes, P, McEwen, A, Amor, DJ.
Fostering Hope and Acknowledging Uncertainty: Meeting Parents’ Needs and Preferences When Communicating Prognosis in Genetic Neurodevelopmental Conditions.
Current Developmental Disorders Reports
1 -11
2024
view publication
-
Turbitt, E, Bourne, M, McEwen, A, Amor, DJ.
Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study..
Dev Med Child Neurol
2023
view publication
-
Morison, LD, van Reyk, O, Forbes, E, Rouxel, F, Faivre, L, Bruinsma, F, Vincent, M, Jacquemont, M-L, Dykzeul, NL, Geneviève, D, et al.
Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases..
Eur J Hum Genet
2023
view publication