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For: Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ; Medical Genome Initiative. Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. NPJ Genom Med 2020;5:47. [PMID: 33110627 DOI: 10.1038/s41525-020-00154-9] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 4.5] [Reference Citation Analysis]
Number Citing Articles
1 Cleal K, Baird DM. Dysgu: efficient structural variant calling using short or long reads. Nucleic Acids Research 2022. [DOI: 10.1093/nar/gkac039] [Reference Citation Analysis]
2 Balagurunathan Y, Mitchell R, El Naqa I. Requirements and reliability of AI in the medical context. Phys Med 2021;83:72-8. [PMID: 33721700 DOI: 10.1016/j.ejmp.2021.02.024] [Cited by in Crossref: 3] [Article Influence: 3.0] [Reference Citation Analysis]
3 Venner E, Muzny D, Smith JD, Walker K, Neben CL, Lockwood CM, Empey PE, Metcalf GA, Kachulis C, Mian S, Musick A, Rehm HL, Harrison S, Gabriel S, Gibbs RA, Nickerson D, Zhou AY, Doheny K, Ozenberger B, Topper SE, Lennon NJ; The All of Us Research Program Regulatory Working Group. Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program. Genome Med 2022;14. [DOI: 10.1186/s13073-022-01031-z] [Reference Citation Analysis]
4 Dahmer MK. Whole Genome Sequencing as a First-Line Clinical Test: Almost Ready for Prime Time. Crit Care Med 2021;49:1815-7. [PMID: 34529612 DOI: 10.1097/CCM.0000000000005077] [Reference Citation Analysis]
5 Austin-Tse CA, Jobanputra V, Perry DL, Bick D, Taft RJ, Venner E, Gibbs RA, Young T, Barnett S, Belmont JW, Boczek N, Chowdhury S, Ellsworth KA, Guha S, Kulkarni S, Marcou C, Meng L, Murdock DR, Rehman AU, Spiteri E, Thomas-Wilson A, Kearney HM, Rehm HL; Medical Genome Initiative*. Best practices for the interpretation and reporting of clinical whole genome sequencing. NPJ Genom Med 2022;7:27. [PMID: 35395838 DOI: 10.1038/s41525-022-00295-z] [Reference Citation Analysis]
6 Hayeems RZ, Dimmock D, Bick D, Belmont JW, Green RC, Lanpher B, Jobanputra V, Mendoza R, Kulkarni S, Grove ME, Taylor SL, Ashley E; Medical Genome Initiative. Clinical utility of genomic sequencing: a measurement toolkit. NPJ Genom Med 2020;5:56. [PMID: 33319814 DOI: 10.1038/s41525-020-00164-7] [Cited by in Crossref: 6] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
7 Marwaha A, Costain G, Cytrynbaum C, Mendoza-Londano R, Chad L, Awamleh Z, Chater-Diehl E, Choufani S, Weksberg R. The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder. Am J Med Genet A 2022. [PMID: 35043535 DOI: 10.1002/ajmg.a.62650] [Reference Citation Analysis]
8 Jones A, Rapisardo S, Zhang L, Mellors T, Withers JB, Gatalica Z, Akmaev VR. Analytical and clinical validation of an RNA sequencing-based assay for quantitative, accurate evaluation of a molecular signature response classifier in rheumatoid arthritis. Expert Rev Mol Diagn 2021;21:1235-43. [PMID: 34727834 DOI: 10.1080/14737159.2021.2000394] [Reference Citation Analysis]
9 Rentas S, Abou Tayoun A. Utility of droplet digital PCR and NGS-based CNV clinical assays in hearing loss diagnostics: current status and future prospects. Expert Rev Mol Diagn 2021;21:213-21. [PMID: 33554673 DOI: 10.1080/14737159.2021.1887731] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 Vorstman J, Scherer SW. What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders. Curr Opin Genet Dev 2021;68:18-25. [PMID: 33454514 DOI: 10.1016/j.gde.2020.12.017] [Reference Citation Analysis]
11 Matimba A, Ali S, Littler K, Madden E, Marshall P, Mccurdy S, Nembaware V, Rodriguez L, Seeley J, Tindana P, Yakubu A, de Vries J. Guideline for feedback of individual genetic research findings for genomics research in Africa. BMJ Glob Health 2022;7:e007184. [DOI: 10.1136/bmjgh-2021-007184] [Reference Citation Analysis]
12 Ngole M, Race V, Mbayabo G, Lumbala P, Songo C, Lukusa PT, Devriendt K, Matthijs G, Lumaka A. DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo. J Clin Lab Anal 2022;:e24398. [PMID: 35405024 DOI: 10.1002/jcla.24398] [Reference Citation Analysis]
13 Walleczek NK, Förster K, Seyr M, Kadrnoska N, Kolar J, Wasinger-Brandweiner V, Vodopiutz J. Rare skeletal disorders: a multidisciplinary postnatal approach to diagnosis and management. Wien Med Wochenschr 2021;171:94-101. [PMID: 33689085 DOI: 10.1007/s10354-021-00820-2] [Reference Citation Analysis]
14 Masten MC, Corre C, Paciorkowski AR, Vierhile A, Adams HR, Vermilion J, Zimmerman GA, Augustine EF, Mink JW. A diagnostic confidence scheme for CLN3 disease. J Inherit Metab Dis 2021;44:1453-62. [PMID: 34453334 DOI: 10.1002/jimd.12429] [Reference Citation Analysis]
15 Coelho AVC, Mascaro-cordeiro B, Lucon DR, Nóbrega MS, Reis RDS, de Alexandre RB, Moura LMS, Oliveira GSD, Guedes RLM, Caraciolo MP, Zurro NB, Cervato MC, Oliveira JB. The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis. Front Mol Biosci 2022;9:821582. [DOI: 10.3389/fmolb.2022.821582] [Reference Citation Analysis]
16 Simar SR, Hanson BM, Arias CA. Techniques in bacterial strain typing: past, present, and future. Curr Opin Infect Dis 2021;34:339-45. [PMID: 34039880 DOI: 10.1097/QCO.0000000000000743] [Reference Citation Analysis]
17 Costain G, Cohn RD, Scherer SW, Marshall CR. Genome sequencing as a diagnostic test. CMAJ 2021;193:E1626-9. [PMID: 34697096 DOI: 10.1503/cmaj.210549] [Reference Citation Analysis]
18 Walker S, Lamoureux S, Khan T, Joynt ACM, Bradley M, Branson HM, Carter MT, Hayeems RZ, Jagiello L, Marshall CR, Meyn MS, Miller SP, Wilson D, Scherer SW, Blaser S, Mireskandari K, Costain G. Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges. Am J Med Genet A 2021. [PMID: 34159711 DOI: 10.1002/ajmg.a.62389] [Reference Citation Analysis]
19 Arnadottir GA, Oddsson A, Jensson BO, Gisladottir S, Simon MT, Arnthorsson AO, Katrinardottir H, Fridriksdottir R, Ivarsdottir EV, Jonasdottir A, Jonasdottir A, Barrick R, Saemundsdottir J, le Roux L, Oskarsson GR, Asmundsson J, Steffensen T, Gudmundsson KR, Ludvigsson P, Jonsson JJ, Masson G, Jonsdottir I, Holm H, Jonasson JG, Magnusson OT, Thorarensen O, Abdenur J, Norddahl GL, Gudbjartsson DF, Bjornsson HT, Thorsteinsdottir U, Sulem P, Stefansson K. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene. Nat Commun 2022;13. [DOI: 10.1038/s41467-022-28330-8] [Reference Citation Analysis]
20 Cortes-Figueiredo F, Carvalho FS, Fonseca AC, Paul F, Ferro JM, Schönherr S, Weissensteiner H, Morais VA. From Forensics to Clinical Research: Expanding the Variant Calling Pipeline for the Precision ID mtDNA Whole Genome Panel. Int J Mol Sci 2021;22:12031. [PMID: 34769461 DOI: 10.3390/ijms222112031] [Reference Citation Analysis]