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For: Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. BMJ 2021;375:e066288. [PMID: 34732400 DOI: 10.1136/bmj-2021-066288] [Cited by in Crossref: 17] [Cited by in F6Publishing: 14] [Article Influence: 8.5] [Reference Citation Analysis]
Number Citing Articles
1 Schon KR, Chinnery PF. Whole-genome sequencing for mitochondrial disorders identifies unexpected mimics. Pract Neurol 2023;23:2-3. [PMID: 36253087 DOI: 10.1136/pn-2022-003570] [Reference Citation Analysis]
2 Paredes-Fuentes AJ, Oliva C, Urreizti R, Yubero D, Artuch R. Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up. Crit Rev Clin Lab Sci 2023;:1-20. [PMID: 36694353 DOI: 10.1080/10408363.2023.2166013] [Reference Citation Analysis]
3 Khamis S, Mitakidou MR, Champion M, Goyal S, Jones RL, Siddiqui A, Sabanathan S, Hedderly T, Lin JP, Jungbluth H, Papandreou A. Clinical Reasoning: A Teenage Girl With Progressive Hyperkinetic Movements, Seizures, and Encephalopathy. Neurology 2023;100:30-7. [PMID: 36130841 DOI: 10.1212/WNL.0000000000201385] [Reference Citation Analysis]
4 Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, Bingisser A, Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C, Poms M, Traversi F, Bürer C, Cherkaoui S, Morscher RJ, Simmons L, Forny M, Xenarios I, Aebersold R, Zamboni N, Rätsch G, Dermitzakis ET, Wollscheid B, Baumgartner MR, Froese DS. Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency. Nat Metab 2023;5:80-95. [PMID: 36717752 DOI: 10.1038/s42255-022-00720-8] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
5 Mavraki E, Labrum R, Sergeant K, Alston CL, Woodward C, Smith C, Knowles CVY, Patel Y, Hodsdon P, Baines JP, Blakely EL, Polke J, Taylor RW, Fratter C. Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. Eur J Hum Genet 2022. [DOI: 10.1038/s41431-022-01249-w] [Reference Citation Analysis]
6 Starosta RT, Shinawi M. Primary Mitochondrial Disorders in the Neonate. Neoreviews 2022;23:e796-812. [PMID: 36450643 DOI: 10.1542/neo.23-12-e796] [Reference Citation Analysis]
7 Macken WL, Falabella M, McKittrick C, Pizzamiglio C, Ellmers R, Eggleton K, Woodward CE, Patel Y, Labrum R, Phadke R, Reilly MM, DeVile C, Sarkozy A, Footitt E, Davison J, Rahman S, Houlden H, Bugiardini E, Quinlivan R, Hanna MG, Vandrovcova J, Pitceathly RDS; Genomics England Research Consortium. Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing. Nat Commun 2022;13:6324. [PMID: 36344503 DOI: 10.1038/s41467-022-32908-7] [Reference Citation Analysis]
8 Hanaford AR, Cho YJ, Nakai H. AAV-vector based gene therapy for mitochondrial disease: progress and future perspectives. Orphanet J Rare Dis 2022;17:217. [PMID: 35668433 DOI: 10.1186/s13023-022-02324-7] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
9 Aldossary AM, Tawfik EA, Alomary MN, Alsudir SA, Alfahad AJ, Alshehri AA, Almughem FA, Mohammed RY, Alzaydi MM. Recent Advances in Mitochondrial Diseases: from Molecular Insights to Therapeutic Perspectives. Saudi Pharmaceutical Journal 2022. [DOI: 10.1016/j.jsps.2022.05.011] [Reference Citation Analysis]
10 Yuan H, Su J, Wang S, Wang L, Zhou W, Zhang B, Yan H, Yang Y, Zhang H. A model to predict a risk of allergic rhinitis based on mitochondrial DNA copy number. Eur Arch Otorhinolaryngol. [DOI: 10.1007/s00405-022-07341-7] [Reference Citation Analysis]
11 Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, Bingisser A, Goetze S, van Drogen A, Harshman K, Pedrioli PGA, Howald C, Poms M, Traversi F, Cherkaoui S, Morscher RJ, Simmons L, Forny M, Xenarios I, Aebersold R, Zamboni N, Raetsch G, Dermitzakis E, Wollscheid B, Baumgartner MR, Froese DS. Integrated multi-omics reveals anaplerotic insufficiency in methylmalonyl-CoA mutase deficiency.. [DOI: 10.1101/2022.01.27.22269972] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
12 Wei W, Schon KR, Elgar G, Orioli A, Tanguy M, Giess A, Tischkowitz M, Caulfield MJ, Chinnery PF. Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes. Nature 2022;611:105-14. [PMID: 36198798 DOI: 10.1038/s41586-022-05288-7] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 8.0] [Reference Citation Analysis]
13 Schon K. Whole genome sequencing helps pinpoint a genetic diagnosis for patients. BMJ 2021;375:n2680. [PMID: 34732386 DOI: 10.1136/bmj.n2680] [Reference Citation Analysis]
14 Chinnery PF. Shortening the diagnostic odyssey-the impact of whole genome sequencing in the NHS. BMJ 2021;375:n2683. [PMID: 34732384 DOI: 10.1136/bmj.n2683] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]