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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: simons c. 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.
Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.
Amarasekera SSC, Hock DH, Lake NJ, Calvo SE, Grønborg SW, Krzesinski EI, Amor DJ, Fahey MC, Simons C, Wibrand F, Mootha VK, Lek M, Lunke S, Stark Z, Østergaard E, Christodoulou J, Thorburn DR, Stroud DA, Compton AG. Amarasekera SSC, et al. Among authors: simons c. Hum Mol Genet. 2023 Jul 20;32(15):2441-2454. doi: 10.1093/hmg/ddad069. Hum Mol Genet. 2023. PMID: 37133451 Free PMC article.
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses.
Rius R, Compton AG, Baker NL, Balasubramaniam S, Best S, Bhattacharya K, Boggs K, Boughtwood T, Braithwaite J, Bratkovic D, Bray A, Brion MJ, Burke J, Casauria S, Chong B, Coman D, Cowie S, Cowley M, de Silva MG, Delatycki MB, Edwards S, Ellaway C, Fahey MC, Finlay K, Fletcher J, Frajman LE, Frazier AE, Gayevskiy V, Ghaoui R, Goel H, Goranitis I, Haas M, Hock DH, Howting D, Jackson MR, Kava MP, Kemp M, King-Smith S, Lake NJ, Lamont PJ, Lee J, Long JC, MacShane M, Madelli EO, Martin EM, Marum JE, Mattiske T, McGill J, Metke A, Murray S, Panetta J, Phillips LK, Quinn MCJ, Ryan MT, Schenscher S, Simons C, Smith N, Stroud DA, Tchan MC, Tom M, Wallis M, Ware TL, Welch AE, Wools C, Wu Y, Christodoulou J, Thorburn DR. Rius R, et al. Among authors: simons c. Genet Med. 2025 Jan;27(1):101271. doi: 10.1016/j.gim.2024.101271. Epub 2024 Sep 19. Genet Med. 2025. PMID: 39305161
Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.
Mallawaarachchi A, McCarthy H, Forbes TA, Jayasinghe K, Patel C, Alexander SI, Boughtwood T, Braithwaite J, Chakera A, Crafter S, Deveson IW, Faull R, Harris T, Johnstone L, Jose M, Leaver A, Little MH, MacArthur D, Mattiske T, Mincham C, Nicholls K, Quinlan C, Quinn MCJ, Rangan G, Ryan J, Simons C, Smyth I, Sundaram M, Trnka P, Wedd L, Biros E, Stark Z, Mallett A. Mallawaarachchi A, et al. Among authors: simons c. BMC Nephrol. 2025 Feb 3;26(1):51. doi: 10.1186/s12882-024-03926-y. BMC Nephrol. 2025. PMID: 39901087 Free PMC article.
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH, Caruana NJ, Semcesen LN, Lake NJ, Formosa LE, Amarasekera SSC, Stait T, Tregoning S, Frajman LE, Bournazos AM, Robinson DRL, Ball M, Reljic B, Ryder B, Wallis MJ, Vasudevan A, Beck C, Peters H, Lee J, Tan NB, Freckmann ML; MitoMDT Diagnostic Network for Genomics and Omics; Karlaftis V, Attard C, Monagle P, Samarasinghe A, Brown R, Bi W, Lek M, McFarland R, Taylor RW, Ryan MT, Cooper ST, Stark Z, Christodoulou J, Compton AG, Thorburn DR, Stroud DA. Hock DH, et al. Genome Med. 2025 May 22;17(1):58. doi: 10.1186/s13073-025-01467-z. Genome Med. 2025. PMID: 40400026 Free PMC article.
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.
Jackson A, Thaker N, Blakes A, Rice G, Griffiths-Jones S, Balasubramanian M, Campbell J, Shannon N, Choi J, Hong J, Hunt D, de Burca A, Kim SY, Kim T, Lee S, Redman M, Rius R, Simons C, Tan TY, Ellingford J, O'Keefe RT, Chae JH, Banka S. Jackson A, et al. Among authors: simons c. Nat Genet. 2025 Jun;57(6):1362-1366. doi: 10.1038/s41588-025-02209-y. Epub 2025 May 29. Nat Genet. 2025. PMID: 40442284 Free PMC article.
Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.
Jackson A, Thaker N, Blakes A, Rice G, Griffiths-Jones S, Balasubramanian M, Campbell J, Shannon N, Choi J, Hong J, Hunt D, de Burca A, Kim SY, Kim T, Lee S, Redman M, Rius R, Simons C, Tan TY, Ellingford J, O'Keefe RT, Chae JH, Banka S. Jackson A, et al. Among authors: simons c. Nat Genet. 2025 Jul;57(7):1792. doi: 10.1038/s41588-025-02274-3. Nat Genet. 2025. PMID: 40555818 Free PMC article. No abstract available.
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Welland MJ, Ahlquist KD, De Fazio P, Austin-Tse C, Pais L, Wedd L, Bryen S, Rius R, Franklin M, Morrison C, Hall G, Gauthier L, Bloemendal A, Francis DI, Mallett AJ, Mallawaarachchi A, Lockhart PJ, Leventer R, Scheffer IE, Howell KB, Kassahn KS, Scott HS, McGaughran J, Christodoulou J, Thorburn DR, Thompson BA, Patel CV, Smith G, O'Donnell-Luria A, Sadedin S, Rehm HL, Lunke S, Wander J, Samocha KE, Simons C, MacArthur DG, Stark Z. Welland MJ, et al. Among authors: simons c. medRxiv [Preprint]. 2025 May 21:2025.05.19.25327921. doi: 10.1101/2025.05.19.25327921. medRxiv. 2025. PMID: 40661289 Free PMC article. Preprint.
De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome.
Hudson R, Abeysekera N, Wolski P, Simons C, Francis L, Farnsworth E, Bennetts B, Patel C, Spijker S, Mallett A. Hudson R, et al. Among authors: simons c. J Nephrol. 2024 Jan;37(1):191-197. doi: 10.1007/s40620-023-01666-0. Epub 2023 Jun 13. J Nephrol. 2024. PMID: 37308774 Free PMC article. No abstract available.
679 results