-
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 Research
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.
Journal of Genetic Counseling
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.
Familial Cancer
18(1)
:
101 -104
2019
view publication
-
Knaus, A, Pantel, JT, Pendziwiat, M, Hajjir, N, Zhao, M, Hsieh, T-C, Schubach, M, Gurovich, Y, Fleischer, N, Jäger, M, et al.
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Genome Medicine
10(1)
:
3
2018
view publication