-
Marsh, APL, Heron, D, Edwards, TJ, Quartier, A, Galea, C, Nava, C, Rastetter, A, Moutard, M-L, Anderson, V, Bitoun, P, et al.
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance..
Nat Genet
49(4)
:
511 -514
2017
view publication
-
Depienne, C, Nava, C, Keren, B, Heide, S, Rastetter, A, Passemard, S, Chantot-Bastaraud, S, Moutard, M-L, Agrawal, PB, VanNoy, G, et al.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU..
Hum Genet
136(4)
:
463 -479
2017
view publication
-
Leventer, RJ, Scerri, T, Marsh, APL, Maixner, W, MacGregor, D, Harvey, AS, Delatycki, MB, Amor, DJ, Bahlo, M, Lockhart, PJ.
Investigating the role of somatic mutations in malformations of brain development.
Pathology
49:
s33
2017
view publication
-
Pizzo, L, Andrieux, J, Amor, DJ, Girirajan, S.
Clinical utility gene card for: 16p12.2 microdeletion..
Eur J Hum Genet
25(2)
:
2017
view publication
-
Downie, L, Halliday, JL, Burt, RA, Lunke, S, Lynch, E, Martyn, M, Poulakis, Z, Gaff, C, Sung, V, Wake, M, et al.
A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort..
BMJ Paediatr Open
1(1)
:
e000119
2017
view publication