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Stolz, JR, Foote, KM, Veenstra-Knol, HE, Pfundt, R, Ten Broeke, SW, de Leeuw, N, Roht, L, Pajusalu, S, Part, R, Rebane, I, et al.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders..
Am J Hum Genet
108(11)
:
2206
2021
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Goranitis, I, Best, S, Christodoulou, J, Boughtwood, T, Stark, Z.
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment..
Eur J Hum Genet
29(11)
:
1645 -1653
2021
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Jayasinghe, K, Wu, Y, Stark, Z, Kerr, PG, Mallett, AJ, Gaff, C, Martyn, M, Goranitis, I, Quinlan, C.
Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases..
Kidney Int Rep
6(11)
:
2850 -2861
2021
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Stark, Z, Foulger, RE, Williams, E, Thompson, BA, Patel, C, Lunke, S, Snow, C, Leong, IUS, Puzriakova, A, Daugherty, LC, et al.
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution..
Am J Hum Genet
108(9)
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1551 -1557
2021
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Stolz, JR, Foote, KM, Veenstra-Knol, HE, Pfundt, R, Ten Broeke, SW, de Leeuw, N, Roht, L, Pajusalu, S, Part, R, Rebane, I, et al.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders..
Am J Hum Genet
108(9)
:
1692 -1709
2021
view publication