-
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
view publication
-
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
view publication
-
Richard, EM, Bakhtiari, S, Marsh, APL, Kaiyrzhanov, R, Wagner, M, Shetty, S, Pagnozzi, A, Nordlie, SM, Guida, BS, Cornejo, P, et al.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss..
Am J Hum Genet
108(10)
:
2006 -2016
2021
view publication
-
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
-
Wortmann, SB, Ziętkiewicz, S, Guerrero-Castillo, S, Feichtinger, RG, Wagner, M, Russell, J, Ellaway, C, Mróz, D, Wyszkowski, H, Weis, D, et al.
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency..
Genet Med
23(9)
:
1705 -1714
2021
view publication