-
Morison, LD, Kennis, MGP, Rots, D, Bouman, A, Kummeling, J, Palmer, E, Vogel, AP, Liegeois, F, Brignell, A, Srivastava, S, et al.
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals..
J Med Genet
61(6)
:
578 -585
2024
view publication
-
Shepherd, DA, Amor, DJ, Moreno-Betancur, M.
Statistical analysis of observational studies in disability research..
Dev Med Child Neurol
2024
view publication
-
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..
Genet Med
26(5)
:
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 toward consensus?.
Genet Med
26(5)
:
101077
2024
view publication
-
Donoghue, S, Wright, J, Voss, AK, Lockhart, PJ, Amor, DJ.
The Mendelian disorders of chromatin machinery: Harnessing metabolic pathways and therapies for treatment..
Mol Genet Metab
142(1)
:
108360
2024
view publication