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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1978 1
1980 1
1981 2
1982 1
1984 2
1985 2
1987 4
1989 2
1990 2
1991 3
1992 1
1993 7
1994 2
1995 4
1996 2
1997 10
1998 4
1999 10
2000 6
2001 7
2002 3
2003 11
2004 14
2005 9
2006 9
2007 10
2008 11
2009 6
2010 8
2011 13
2012 24
2013 21
2014 15
2015 19
2016 22
2017 35
2018 28
2019 45
2020 37
2021 33
2022 36
2023 32
2024 35
2025 2

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476 results

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Page 1
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Stenton SL, Laricchia K, Lake NJ, Chaluvadi S, Ganesh V, DiTroia S, Osei-Owusu I, Pais L, O'Heir E, Austin-Tse C, O'Leary M, Abu Shanap M, Barrows C, Berger S, Bönnemann CG, Bujakowska KM, Campagna DR, Compton AG, Donkervoort S, Fleming MD, Gallacher L, Gleeson JG, Haliloglu G, Pierce EA, Place EM, Sankaran VG, Shimamura A, Stark Z, Tan TY, Thorburn DR, White SM; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Vilain E, Lek M, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: thorburn dr. medRxiv [Preprint]. 2024 Dec 26:2024.12.22.24319370. doi: 10.1101/2024.12.22.24319370. medRxiv. 2024. PMID: 39763565 Free PMC article. Preprint.
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders.
Santos Gonzalez F, Hock DH, Thorburn DR, Mordaunt D, Williamson NA, Ang CS, Stroud DA, Christodoulou J, Goranitis I. Santos Gonzalez F, et al. Among authors: thorburn dr. Orphanet J Rare Dis. 2024 Nov 29;19(1):443. doi: 10.1186/s13023-024-03462-w. Orphanet J Rare Dis. 2024. PMID: 39609890 Free PMC article.
Liver transplantation for critically ill patients with acute on chronic liver failure: a prospective national programme of waitlist prioritisation.
Bernal W, Taylor R, Rowe IA, Chauhan A, Armstrong MJ, Allison MED, Webb G, Pirani T, Moore J, Burke L, Masson S, Cressy D, Hogan BJ, Westbrook R, Jalan R, Simpson KJ, Isaac J, Thorburn D. Bernal W, et al. Among authors: thorburn d. Lancet Reg Health Eur. 2024 Oct 13;46:101067. doi: 10.1016/j.lanepe.2024.101067. eCollection 2024 Nov. Lancet Reg Health Eur. 2024. PMID: 39529808 Free PMC article.
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Ball M, Bouffler SE, Barnett CB, Freckmann ML, Hunter MF, Kamien B, Kassahn KS, Lunke S, Patel CV, Pinner J, Roscioli T, Sandaradura SA, Scott HS, Tan TY, Wallis M, Compton AG, Thorburn DR, Stark Z, Christodoulou J. Ball M, et al. Among authors: thorburn dr. Genet Med. 2025 Jan;27(1):101293. doi: 10.1016/j.gim.2024.101293. Epub 2024 Oct 15. Genet Med. 2025. PMID: 39417332
Quantifying constraint in the human mitochondrial genome.
Lake NJ, Ma K, Liu W, Battle SL, Laricchia KM, Tiao G, Puiu D, Ng KK, Cohen J, Compton AG, Cowie S, Christodoulou J, Thorburn DR, Zhao H, Arking DE, Sunyaev SR, Lek M. Lake NJ, et al. Among authors: thorburn dr. Nature. 2024 Nov;635(8038):390-397. doi: 10.1038/s41586-024-08048-x. Epub 2024 Oct 16. Nature. 2024. PMID: 39415008
Loss of biochemical response at any time worsens outcomes in UDCA-treated patients with primary biliary cholangitis.
Roberts SB, Choi WJ, Worobetz L, Vincent C, Flemming JA, Cheung A, Qumosani K, Swain M, Grbic D, Ko HH, Peltekian KM, Abrahamyan L, Saini M, Tirona K, Aziz B, Lytvyak E, Invernizzi P, Ponsioen CY, Bruns T, Cazzagon N, Lindor K, Dalekos GN, Gatselis NK, Verhelst X, Floreani A, Corpechot C, Mayo MJ, Levy C, Londoño MC, Battezzati PM, Pares A, Nevens F, van der Meer A, Kowdley KV, Trivedi PJ, Lleo A, Thorburn D, Carbone M, Selzner N, Gulamhusein AF, Janssen H, Montano-Loza AJ, Mason AL, Hirschfield GM, Hansen BE; Canadian Network for Autoimmune Liver disease (CaNAL). Roberts SB, et al. Among authors: thorburn d. JHEP Rep. 2024 Jul 8;6(10):101168. doi: 10.1016/j.jhepr.2024.101168. eCollection 2024 Oct. JHEP Rep. 2024. PMID: 39380718 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: thorburn dr. Genet Med. 2025 Jan;27(1):101271. doi: 10.1016/j.gim.2024.101271. Epub 2024 Sep 19. Genet Med. 2025. PMID: 39305161
Efficacy and safety of palliative treatment in patients with autoimmune liver disease-associated hepatocellular carcinoma.
Stern L, Schmidt C, Kocheise L, Joerg V, Casar C, Walter A, Drenth JPH, Papp M, Gatselis NK, Zachou K, Pinter M, Scheiner B, Vogel A, Kirstein MM, Finkelmeier F, Waidmann O, Weinmann A, Milkiewicz P, Thorburn D, Halliday N, Lleo A, Huber S, Dalekos GN, Lohse AW, Wege H, von Felden J, Schulze K. Stern L, et al. Among authors: thorburn d. Ann Hepatol. 2024 Nov-Dec;29(6):101534. doi: 10.1016/j.aohep.2024.101534. Epub 2024 Aug 13. Ann Hepatol. 2024. PMID: 39147132 Free article.
476 results