-
Castilla-Vallmanya, L, Selmer, KK, Dimartino, C, Rabionet, R, Blanco-Sánchez, B, Yang, S, Reijnders, MRF, van Essen, AJ, Oufadem, M, Vigeland, MD, et al.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7..
Genet Med
22(7)
:
1215 -1226
2020
view publication
-
Van Bergen, NJ, Linster, CL, Christodoulou, J.
Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness..
Brain
143(7)
:
e55
2020
view publication
-
Wenger, TL, Bly, RA, Wu, N, Albert, CM, Park, J, Shieh, J, Chenbhanich, J, Heike, CL, Adam, MP, Chang, I, et al.
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy..
Am J Med Genet A
182(7)
:
1576 -1591
2020
view publication
-
Australian Genomics Health Alliance Acute Care Flagship, Lunke, S, Eggers, S, Wilson, M, Patel, C, Barnett, CP, Pinner, J, Sandaradura, SA, Buckley, MF, Krzesinski, EI, et al.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System..
JAMA
323(24)
:
2503 -2511
2020
view publication
-
Le, T-L, Sribudiani, Y, Dong, X, Huber, C, Kois, C, Baujat, G, Gordon, CT, Mayne, V, Galmiche, L, Serre, V, et al.
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling..
Am J Hum Genet
106(6)
:
779 -792
2020
view publication