Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Year Number of Results
1998 1
2008 1
2009 4
2010 3
2011 3
2012 3
2013 3
2014 4
2015 3
2016 4
2017 7
2018 8
2019 6
2020 11
2021 11
2022 11
2023 12
2024 7
2025 7

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

98 results

Results by year

Filters applied: . Clear all
Page 1
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. Among authors: stroud da. Genome Med. 2025 May 22;17(1):58. doi: 10.1186/s13073-025-01467-z. Genome Med. 2025. PMID: 40400026 Free PMC article.
Proximity proteomics reveals a mechanism of fatty acid transfer at lipid droplet-mitochondria- endoplasmic reticulum contact sites.
Bezawork-Geleta A, Devereux CJ, Keenan SN, Lou J, Cho E, Nie S, De Souza DP, Narayana VK, Siddall NA, Rodrigues CHM, Portelli S, Zheng T, Nim HT, Ramialison M, Hime GR, Dodd GT, Hinde E, Ascher DB, Stroud DA, Watt MJ. Bezawork-Geleta A, et al. Among authors: stroud da. Nat Commun. 2025 Mar 3;16(1):2135. doi: 10.1038/s41467-025-57405-5. Nat Commun. 2025. PMID: 40032835 Free PMC article.
Formation of I2+III2 supercomplex rescues respiratory chain defects.
Liang C, Padavannil A, Zhang S, Beh S, Robinson DRL, Meisterknecht J, Cabrera-Orefice A, Koves TR, Watanabe C, Watanabe M, Illescas M, Lim R, Johnson JM, Ren S, Wu YJ, Kappei D, Ghelli AM, Funai K, Osaka H, Muoio D, Ugalde C, Wittig I, Stroud DA, Letts JA, Ho L. Liang C, et al. Among authors: stroud da. Cell Metab. 2025 Feb 4;37(2):441-459.e11. doi: 10.1016/j.cmet.2024.11.011. Epub 2025 Jan 8. Cell Metab. 2025. PMID: 39788125
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: stroud da. 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.
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Dofash LNH, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, Donkervoort S, Bönnemann CG, Sud M, VanNoy GE, Mangilog BE, Pais L, O'Donnell-Luria A, Madruga-Garrido M, Scala M, Fiorillo C, Baratto S, Traverso M, Malfatti E, Bruno C, Zara F, Paradas C, Ogata K, Nishino I, Laing NG, Bryson-Richardson RJ, Cabrera-Serrano M, Ravenscroft G. Dofash LNH, et al. Among authors: stroud da. Brain. 2025 May 13;148(5):1707-1722. doi: 10.1093/brain/awae371. Brain. 2025. PMID: 39531736
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Blue EE, Huang SJ, Khan A, Golden-Grant K, Boyd B, Rosenthal EA, Gillentine MA, Fleming LR, Adams DR, Wolfe L, Allworth A, Bamshad MJ, Caruana NJ, Chanprasert S, Chen J, Dargie N, Doherty D, Friederich MW, Hisama FM, Horike-Pyne M, Lee JC, Donovan TE, Hock DH, Leppig KA, Miller DE, Mirzaa G, Ranchalis J, Raskind WH, Michel CR, Reisdorph R, Schwarze U, Sheppeard S, Strohbehn S, Stroud DA, Sybert VP, Wener MH; University of Washington Center for Rare Disease Research, the Undiagnosed Diseases Network; Stergachis AB, Lam CT, Jarvik GP, Dipple KM, Van Hove JLK, Glass IA. Blue EE, et al. Among authors: stroud da. Rare. 2024;2:100040. doi: 10.1016/j.rare.2024.100040. Epub 2024 Aug 14. Rare. 2024. PMID: 39421685 Free PMC article.
An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis.
Starosta RT, Larson AA, Meeks NJL, Gracie S, Friederich MW, Gaughan SM, Baker PR 2nd, Knupp KG, Michel CR, Reisdorph R, Hock DH, Stroud DA, Wood T, Van Hove JLK. Starosta RT, et al. Among authors: stroud da. Mitochondrion. 2024 Nov;79:101973. doi: 10.1016/j.mito.2024.101973. Epub 2024 Oct 15. Mitochondrion. 2024. PMID: 39413893
98 results