-
Le Duc, D, Giulivi, C, Hiatt, SM, Napoli, E, Panoutsopoulos, A, Harlan De Crescenzo, A, Kotzaeridou, U, Syrbe, S, Anagnostou, E, Azage, M, et al.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size..
Brain
142(9)
:
2617 -2630
2019
view publication
-
Bozaoglu, K, Gao, Y, Stanley, E, Fanjul-Fernández, M, Brown, NJ, Pope, K, Green, CC, Vlahos, K, Sourris, K, Bahlo, M, et al.
Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder..
Stem Cell Res
39:
101516
2019
view publication
-
Martyn, M, Kanga-Parabia, A, Lynch, E, James, PA, Macciocca, I, Trainer, AH, Halliday, J, Keogh, L, Wale, J, Winship, I, et al.
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system..
J Genet Couns
28(2)
:
388 -397
2019
view publication
-
Akesson, LS, Eggers, S, Chong, B, Hunter, MF, Krzesinski, E, Brown, NJ, Tan, TY, Richmond, C, Thorburn, DR, Christodoulou, J, et al.
Rapid mitochondrial genome (MTDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care.
Pathology
51:
s118 -s119
2019
view publication
-
Brown, NJ, Bhatia, K, Teague, J, White, SM, Lo, P, Challis, J, Beshay, V, Sullivan, M, Malkin, D, Hansford, JR.
Report of a bi-allelic truncating germline mutation in TP53..
Fam Cancer
18(1)
:
101 -104
2019
view publication