-
Deuis, JR, Kumble, S, Keramidas, A, Ragnarsson, L, Simons, C, Pais, L, White, SM, Vetter, I.
Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).
Human Molecular Genetics
33(2)
:
103 -109
2024
view publication
-
Dashnow, H, Bell, KM, Stark, Z, Tan, TY, White, SM, Oshlack, A.
Pooled-parent exome sequencing to prioritise de novo variants in genetic disease.
601740
2024
view publication
-
Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, MGenCouns, GRB, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al.
RNA sequencing identifies a cryptic exon caused by a deep intronic variant in NDUFB10 resulting in isolated Complex I deficiency.
2020.05.21.20104265
2024
view publication
-
Clark, MM, Stark, Z, Farnaes, L, Tan, TY, White, SM, Dimmock, D, Kingsmore, SF.
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
npj Genomic Medicine
3(1)
:
16
2024
view publication
-
Jolly, LA, Parnell, E, Gardner, AE, Corbett, MA, PĂ©rez-Jurado, LA, Shaw, M, Lesca, G, Keegan, C, Schneider, MC, Griffin, E, et al.
Missense variant contribution to USP9X-female syndrome.
npj Genomic Medicine
5(1)
:
53
2024
view publication