-
Morgan, A, Braden, R, Wong, MMK, Colin, E, Amor, D, Liégeois, F, Srivastava, S, Vogel, A, Bizaoui, V, Ranguin, K, et al.
Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
European Journal of Human Genetics
29(8)
:
1216 -1225
2021
view publication
-
Peris, M, Reid, SM, Dobie, S, Bonacquisto, L, Shepherd, DA, Amor, DJ.
Second trimester maternal serum biomarkers and the risk of cerebral palsy.
Prenatal Diagnosis
41(9)
:
1101 -1110
2021
view publication
-
Downie, L, Amor, DJ, Halliday, J, Lewis, S, Martyn, M, Goranitis, I.
Exome Sequencing for Isolated Congenital Hearing Loss: A Cost‐Effectiveness Analysis.
The Laryngoscope
131(7)
:
e2371 -e2377
2021
view publication
-
Alsharhan, H, He, M, Edmondson, AC, Daniel, EJP, Chen, J, Donald, T, Bakhtiari, S, Amor, DJ, Jones, EA, Vassallo, G, et al.
ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Journal of Inherited Metabolic Disease
44(4)
:
1001 -1012
2021
view publication
-
Chowdhury, F, Wang, L, Al-Raqad, M, Amor, DJ, Baxová, A, Bendová, Š, Biamino, E, Brusco, A, Caluseriu, O, Cox, NJ, et al.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genetics in Medicine
23(7)
:
1234 -1245
2021
view publication