-
Downie, L, Halliday, J, Burt, R, Lunke, S, Lynch, E, Martyn, M, Poulakis, Z, Gaff, C, Sung, V, Wake, M, et al.
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study..
Eur J Hum Genet
28(5)
:
587 -596
2020
view publication
-
Downie, L, Halliday, J, Lewis, S, Lunke, S, Lynch, E, Martyn, M, Gaff, C, Jarmolowicz, A, Amor, DJ.
Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project..
Genet Med
22(5)
:
937 -944
2020
view publication
-
Chan, F, Yeung, A, Vasudevan, A, Stark, Z, Prystupa, S, Chan, Y, Leong, T, Ireland-Jenkin, K, Fawcett, S, Graetz, M, et al.
Whole Exome Sequencing (WES) enhances the diagnostic rate of perinatal autopsy: A prospective clinical utility trial with implications for prenatal diagnosis.
Pathology
52:
s68 -s69
2020
view publication
-
Ramchand, J, Wallis, M, Macciocca, I, Lynch, E, Farouque, O, Martyn, M, Phelan, D, Chong, B, Lockwood, S, Weintraub, R, et al.
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy..
J Am Heart Assoc
9(2)
:
e013346
2020
view publication
-
Tan, TY, Lunke, S, Chong, B, Phelan, D, Fanjul-Fernandez, M, Marum, JE, Kumar, VS, Stark, Z, Yeung, A, Brown, NJ, et al.
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis..
Eur J Hum Genet
27(12)
:
1791 -1799
2019
view publication