-
Chen, Y, Dawes, R, Kim, HC, Ljungdahl, A, Stenton, SL, Walker, S, Lord, J, Lemire, G, Martin-Geary, AC, Ganesh, VS, et al.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome..
Nature
632(8026)
:
832 -840
2024
view publication
-
Moser, C, Spencer-Smith, MM, Anderson, PJ, McIlroy, A, Wood, AG, Leventer, RJ, Anderson, VA, Siffredi, V.
Language and communication functioning in children and adolescents with agenesis of the corpus callosum..
Brain Lang
255:
105448
2024
view publication
-
Macdonald-Laurs, E, Warren, AEL, Leventer, RJ, Harvey, AS.
Why did my seizures start now? Influences of lesion connectivity and genetic etiology on age at seizure onset in focal epilepsy..
Epilepsia
65(6)
:
1644 -1657
2024
view publication
-
Chen, Y, Dawes, R, Kim, HC, Stenton, SL, Walker, S, Ljungdahl, A, Lord, J, Ganesh, VS, Ma, J, Martin-Geary, AC, et al.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders..
medRxiv
2024
view publication
-
Macdonald-Laurs, E, Warren, AEL, Francis, P, Mandelstam, SA, Lee, WS, Coleman, M, Stephenson, SEM, Barton, S, D'Arcy, C, Lockhart, PJ, et al.
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia..
Brain
147(4)
:
1264 -1277
2024
view publication