Genomic testing for suspected monogenic kidney disease in children...
Wu Y, Jayasinghe K, Stark Z, Quinlan C, Patel C, McCarthy H, et al. Genetics...
July 22, 2023
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Genomics and inclusion of Indigenous peoples in high income...
Gwynne K, Jiang S, Venema R, Christie V, Boughtwood T, Ritha M, et al. Human...
July 21, 2023
Aligning intuition and theory: a novel approach to identifying...
Taylor N, McKay S, Long JC, Gaff C, North K, Braithwaite J, et al. Implementation...
July 20, 2023
What’s in a name? Justifying terminology for genomic findings...
White S, Haas M, Laginha KJ, Laurendet K, Gaff C, Vears D, et al. Genetics...
July 12, 2023
Quality of life in caregivers of a child with...
Robertson EG, Kelada L, Best S, Goranitis I, Pierce K; CoGENeS Group, et al. Developmental...
July 8, 2023
Uptake of funded genomic testing for syndromic and non-syndromic...
Mordaunt DA, Dalziel K, Goranitis I, Stark Z. European Journal of Human Genetics. 2023.
July 3, 2023
Genomic newborn screening for rare diseases
Stark Z, Scott RH. Nature Reviews Genetics. 2023.
June 29, 2023
Integrated multi-omics for rapid rare disease diagnosis on a...
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, et al. Nature...
June 8, 2023
Direct notification by health professionals of relatives at-risk of...
Tiller JM, Stott A, Finlay K, Boughtwood T, Madelli EO, Horton A, et al. European...
June 6, 2023