-
Hock, DH, Compton, AG, Amarasekera, SSC, Frazier, AE, Helman, G, Lake, NJ, Semcesen, LN, Stark, Z, Lek, M, Simons, C, et al.
Mainstreaming proteomics into rare disease diagnostics.
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.
Human Molecular Genetics
31(3)
:
362 -375
2022
view publication
-
Godler, DE, Ling, L, Gamage, D, Baker, EK, Bui, M, Field, MJ, Rogers, C, Butler, MG, Murgia, A, Leonardi, E, et al.
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow.
JAMA Network Open
5(1)
:
e2141911
2022
view publication
-
Salter, CG, Cai, Y, Lo, B, Helman, G, Taylor, H, McCartney, A, Leslie, JS, Accogoli, A, Zara, F, Traverso, M, et al.
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Brain
144(12)
:
awab313
2021
view publication
-
Helman, G, Mendes, MI, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, Carrozzo, R, Torraco, A, et al.
Expanded phenotype of AARS1-related white matter disease.
Genetics in Medicine
23(12)
:
2352 -2359
2021
view publication