-
Kruszka, P, Hu, T, Hong, S, Signer, R, Cogné, B, Isidor, B, Mazzola, SE, Giltay, JC, van Gassen, KLI, England, EM, et al.
Phenotype delineation of ZNF462 related syndrome..
Am J Med Genet A
179(10)
:
2075 -2082
2019
view publication
-
Lenk, GM, Berry, IR, Stutterd, CA, Blyth, M, Green, L, Vadlamani, G, Warren, D, Craven, I, Fanjul-Fernandez, M, Rodriguez-Casero, V, et al.
Cerebral hypomyelination associated with biallelic variants of FIG4..
Hum Mutat
40(5)
:
619 -630
2019
view publication
-
Costain, G, Callewaert, B, Gabriel, H, Tan, TY, Walker, S, Christodoulou, J, Lazar, T, Menten, B, Orkin, J, Sadedin, S, et al.
De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome..
Genet Med
21(4)
:
1021 -1026
2019
view publication
-
Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, et al.
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants..
Genet Med
21(4)
:
850 -860
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