-
Sleiman, S, Marshall, AE, Dong, X, Mhanni, A, Alidou-D'Anjou, I, Frosk, P, Marin, SE, Stark, Z, Del Bigio, MR, McBride, A, et al.
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia..
Hum Mol Genet
31(4)
:
614 -624
2022
view publication
-
Van Bergen, NJ, Bell, KM, Carey, K, Gear, R, Massey, S, Murrell, EK, Gallacher, L, Pope, K, Lockhart, PJ, Kornberg, A, et al.
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans..
Hum Mol Genet
31(3)
:
362 -375
2022
view publication
-
Horton, A, Hong, KM, Pandithan, D, Allen, M, Killick, C, Goergen, S, Springer, A, Phelan, D, Marty, M, Halligan, R, et al.
Ethylmalonic encephalopathy masquerading as meningococcemia..
Cold Spring Harb Mol Case Stud
8(2)
:
2022
view publication
-
Kelada, L, Wakefield, C, Vidic, N, Armstrong, DS, Bennetts, B, Boggs, K, Christodoulou, J, Harrison, J, Ho, G, Kapur, N, et al.
Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life..
BMJ Open Respir Res
9(1)
:
2022
view publication
-
Van Bergen, NJ, Hock, DH, Spencer, L, Massey, S, Stait, T, Stark, Z, Lunke, S, Roesley, A, Peters, H, Lee, JY, et al.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function..
Int J Mol Sci
23(2)
:
2022
view publication