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A call to action to scale up research and clinical genomic data sharing.
Stark Z, Glazer D, Hofmann O, Rendon A, Marshall CR, Ginsburg GS, Lunt C, Allen N, Effingham M, Hastings Ward J, Hill SL, Ali R, Goodhand P, Page A, Rehm HL, North KN, Scott RH. Stark Z, et al. Among authors: north kn. Nat Rev Genet. 2025 Feb;26(2):141-147. doi: 10.1038/s41576-024-00776-0. Epub 2024 Oct 7. Nat Rev Genet. 2025. PMID: 39375561 Review.
Sensory Processing in Children and Adolescents with Neurofibromatosis Type 1.
Pride NA, Haebich KM, Walsh KS, Lami F, Rouel M, Maier A, Chisholm AK, Lorenzo J, Hearps SJC, North KN, Payne JM. Pride NA, et al. Among authors: north kn. Cancers (Basel). 2023 Jul 14;15(14):3612. doi: 10.3390/cancers15143612. Cancers (Basel). 2023. PMID: 37509275 Free PMC article.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S, Bouffler SE, Patel CV, Sandaradura SA, Wilson M, Pinner J, Hunter MF, Barnett CP, Wallis M, Kamien B, Tan TY, Freckmann ML, Chong B, Phelan D, Francis D, Kassahn KS, Ha T, Gao S, Arts P, Jackson MR, Scott HS, Eggers S, Rowley S, Boggs K, Rakonjac A, Brett GR, de Silva MG, Springer A, Ward M, Stallard K, Simons C, Conway T, Halman A, Van Bergen NJ, Sikora T, Semcesen LN, Stroud DA, Compton AG, Thorburn DR, Bell KM, Sadedin S, North KN, Christodoulou J, Stark Z. Lunke S, et al. Among authors: north kn. Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8. Nat Med. 2023. PMID: 37291213 Free PMC article.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Stark Z, Boughtwood T, Haas M, Braithwaite J, Gaff CL, Goranitis I, Spurdle AB, Hansen DP, Hofmann O, Laing N, Metcalfe S, Newson AJ, Scott HS, Thorne N, Ward RL, Dinger ME, Best S, Long JC, Grimmond SM, Pearson J, Waddell N, Barnett CP, Cook M, Field M, Fielding D, Fox SB, Gecz J, Jaffe A, Leventer RJ, Lockhart PJ, Lunke S, Mallett AJ, McGaughran J, Mileshkin L, Nones K, Roscioli T, Scheffer IE, Semsarian C, Simons C, Thomas DM, Thorburn DR, Tothill R, White D, Dunwoodie S, Simpson PT, Phillips P, Brion MJ, Finlay K, Quinn MC, Mattiske T, Tudini E, Boggs K, Murray S, Wells K, Cannings J, Sinclair AH, Christodoulou J, North KN. Stark Z, et al. Among authors: north kn. Am J Hum Genet. 2023 Mar 2;110(3):419-426. doi: 10.1016/j.ajhg.2023.01.018. Am J Hum Genet. 2023. PMID: 36868206 Free PMC article. Review.
276 results