-
Brett, GR, Martyn, M, Lynch, F, de Silva, MG, Ayres, S, Gallacher, L, Boggs, K, Baxendale, A, Schenscher, S, King-Smith, S, et al.
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children..
Genet Med
22(12)
:
1976 -1985
2020
view publication
-
Schofield, D, Rynehart, L, Shresthra, R, White, SM, Stark, Z.
Response to Ferket et al..
Genet Med
22(11)
:
1910
2020
view publication
-
Kennedy, J, Goudie, D, Blair, E, Chandler, K, Joss, S, McKay, V, Green, A, Armstrong, R, Lees, M, Kamien, B, et al.
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants..
Genet Med
22(11)
:
1920
2020
view publication
-
Tan, NB, Stapleton, R, Stark, Z, Delatycki, MB, Yeung, A, Hunter, MF, Amor, DJ, Brown, NJ, Stutterd, CA, McGillivray, G, et al.
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review..
Mol Genet Genomic Med
8(11)
:
e1508
2020
view publication
-
Akesson, LS, Bournazos, A, Fennell, A, Krzesinski, EI, Tan, K, Springer, A, Rose, K, Goranitis, I, Francis, D, Lee, C, et al.
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate..
Hum Mutat
41(11)
:
1884 -1891
2020
view publication