-
Lemire, G, Sanchis-Juan, A, Russell, K, Baxter, S, Chao, KR, Singer-Berk, M, Groopman, E, Wong, I, England, E, Goodrich, J, et al.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease..
Am J Hum Genet
111(5)
:
863 -876
2024
view publication
-
Dias, K-R, Shrestha, R, Schofield, D, Evans, C-A, O'Heir, E, Zhu, Y, Zhang, F, Standen, K, Weisburd, B, Stenton, SL, et al.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort..
Genet Med
26(5)
:
101076
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
-
Szot, JO, Cuny, H, Martin, EM, Sheng, DZ, Iyer, K, Portelli, S, Nguyen, V, Gereis, JM, Alankarage, D, Chitayat, D, et al.
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder..
J Clin Invest
134(4)
:
2024
view publication
-
Scott, HS, Matotek, E, Mattiske, T, Bryson-Richardson, RJ, Smyth, I, Gecz, J, Christodoulou, J, Palpant, N, Smith, K, Warr, C, et al.
How the Australian Functional Genomics Network (AFGN) contributes to improved patient care.
Pathology
56:
s21 -s22
2024
view publication