-
White, SM, Bhoj, E, Nellåker, C, Lachmeijer, AMA, Marshall, AE, Boycott, KM, Li, D, Smith, W, Hartley, T, McBride, A, et al.
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome..
Am J Hum Genet
108(4)
:
749 -756
2021
view publication
-
Lenherr, N, Christodoulou, J, Duley, J, Dobritzsch, D, Fairbanks, L, Datta, AN, Filges, I, Gürtler, N, Roelofsen, J, van Kuilenburg, ABP, et al.
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)..
Mol Genet Metab Rep
26:
100709
2021
view publication
-
Frazier, AE, Compton, AG, Kishita, Y, Hock, DH, Welch, AE, Amarasekera, SSC, Rius, R, Formosa, LE, Imai-Okazaki, A, Francis, D, et al.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus..
Med
2(1)
:
49 -73
2021
view publication
-
Goranitis, I, Best, S, Stark, Z, Boughtwood, T, Christodoulou, J.
The value of genomic sequencing in complex pediatric neurological disorders: a discrete choice experiment..
Genet Med
23(1)
:
155 -162
2021
view publication
-
Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, Brett, GR, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al.
Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10..
Hum Mutat
42(1)
:
19 -24
2021
view publication