-
Cummings, BB, Marshall, JL, Tukiainen, T, Lek, M, Donkervoort, S, Foley, AR, Bolduc, V, Waddell, L, Sandaradura, S, O’Grady, G, et al.
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
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-
Merkle, FT, Ghosh, S, Genovese, G, Handsaker, RE, Kashin, S, Karczewski, K, O’Dushlaine, C, Pato, C, Pato, M, MacArthur, DG, et al.
Biological insights from the whole genome analysis of human embryonic stem cells.
2024
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-
Whelan, CW, Handsaker, RE, Genovese, G, Kashin, S, Lek, M, Hughes, J, McElwee, J, Lenardo, M, MacArthur, D, McCarroll, SA.
Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families.
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-
Siggs, OM, Awadalla, MS, Souzeau, E, Staffieri, SE, Kearns, LS, Laurie, K, Kuot, A, Qassim, A, Edwards, TL, Coote, MA, et al.
The genetic and clinical landscape of nanophthalmos in an Australian cohort.
2024
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-
Mohammadi, P, Castel, SE, Cummings, BB, Einson, J, Sousa, C, Hoffman, P, Donkervoort, S, Mohassel, P, Foley, R, Wheeler, HE, et al.
Quantifying genetic regulatory variation in human populations improves transcriptome analysis in rare disease patients.
2024
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