-
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
-
Steinkellner, H, Beribisky, AV, Mausberg, P, Christodoulou, J, Scheiber-Mojdehkar, B, Huber, A, Sarne, V, Laccone, F.
An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants..
J Vis Exp
2020
view publication
-
Davids, M, Menezes, M, Guo, Y, McLean, SD, Hakonarson, H, Collins, F, Worgan, L, Billington, CJ, Maric, I, Littlejohn, RO, et al.
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency..
Mol Genet Metab
130(1)
:
49 -57
2020
view publication