-
Scala, M, Nishikawa, M, Ito, H, Tabata, H, Khan, T, Accogli, A, Davids, L, Ruiz, A, Chiurazzi, P, Cericola, G, et al.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes..
Brain
145(9)
:
3308 -3327
2022
view publication
-
Davenport, R, Su, JC, Nathalie, J, Richmond, CM, Yang Tan, T, Robertson, SJ.
Clinical overlap of PHACE and LUMBAR syndromes..
Pediatr Dermatol
39(5)
:
752 -756
2022
view publication
-
Cloney, T, Gallacher, L, Pais, LS, Tan, NB, Yeung, A, Stark, Z, Brown, NJ, McGillivray, G, Delatycki, MB, de Silva, MG, et al.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program..
J Med Genet
59(8)
:
748 -758
2022
view publication
-
van der Spek, J, den Hoed, J, Snijders Blok, L, Dingemans, AJM, Schijven, D, Nellaker, C, Venselaar, H, Astuti, GDN, Barakat, TS, Bebin, EM, et al.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome..
Genet Med
24(6)
:
1283 -1296
2022
view publication
-
Tan, NB, Pagnamenta, AT, Ferla, MP, Gadian, J, Chung, BH, Chan, MC, Fung, JL, Cook, E, Guter, S, Boschann, F, et al.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability..
J Med Genet
59(5)
:
511 -516
2022
view publication