-
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.
Genetics in Medicine
23(9)
:
1705 -1714
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. Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Genetics in Medicine
23(9)
:
1789 -1789
2021
view publication
-
McKnight, D, Bean, L, Karbassi, I, Beattie, K, Bienvenu, T, Bonin, H, Fang, P, Christodoulou, J, Friez, M, Helgeson, M, et al. Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods.
2021
view publication
-
Long, JC, Best, S, Hatem, S, Theodorou, T, Catton, T, Murray, S, Braithwaite, J, Christodoulou, J. The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis.
Orphanet Journal of Rare Diseases
16(1)
:
310
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.
American Journal of Human Genetics
108(9)
:
1692 -1709
2021
view publication