-
Lipatova, Z, Van Bergen, N, Stanga, D, Sacher, M, Christodoulou, J, Segev, N. TRAPPing a neurological disorder: from yeast to humans.
Autophagy
16(5)
:
965 -966
2020
view publication
-
Van Bergen, NJ, Christodoulou, J. Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement..
Brain
143(4)
:
e30
2020
view publication
-
Dong, X, Tan, NB, Howell, KB, Barresi, S, Freeman, JL, Vecchio, D, Piccione, M, Radio, FC, Calame, D, Zong, S, et al. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
American Journal of Human Genetics
106(4)
:
559 -569
2020
view publication
-
Tan, TY, Sedmík, J, Fitzgerald, MP, Halevy, RS, Keegan, LP, Helbig, I, Basel-Salmon, L, Cohen, L, Straussberg, R, Chung, WK, et al. Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
American Journal of Human Genetics
106(4)
:
467 -483
2020
view publication
-
Wu, Y, Al-Janabi, H, Mallett, A, Quinlan, C, Scheffer, IE, Howell, KB, Christodoulou, J, Leventer, RJ, Lockhart, PJ, Stark, Z, et al. Parental health spillover effects of paediatric rare genetic conditions.
Quality of Life Research
29(9)
:
2445 -2454
2020
view publication