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For: Bacchelli C, Williams HJ. Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases. Expert Rev Mol Diagn 2016;16:1073-82. [PMID: 27560481 DOI: 10.1080/14737159.2016.1222906] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 1.8] [Reference Citation Analysis]
Number Citing Articles
1 Liang Y, He L, Zhao Y, Hao Y, Zhou Y, Li M, Li C, Pu X, Wen Z. Comparative Analysis for the Performance of Variant Calling Pipelines on Detecting the de novo Mutations in Humans. Front Pharmacol 2019;10:358. [PMID: 31105557 DOI: 10.3389/fphar.2019.00358] [Cited by in Crossref: 5] [Cited by in F6Publishing: 4] [Article Influence: 1.7] [Reference Citation Analysis]
2 Abu Diab A, AlTalbishi A, Rosin B, Kanaan M, Kamal L, Swaroop A, Chowers I, Banin E, Sharon D, Khateb S. The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies. Acta Ophthalmol 2019;97:e877-86. [PMID: 30925032 DOI: 10.1111/aos.14095] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 2.7] [Reference Citation Analysis]
3 Mezinska S, Gallagher L, Verbrugge M, Bunnik EM. Ethical issues in genomics research on neurodevelopmental disorders: a critical interpretive review. Hum Genomics 2021;15:16. [PMID: 33712057 DOI: 10.1186/s40246-021-00317-4] [Reference Citation Analysis]
4 Hong S, Wang L, Zhao D, Zhang Y, Chen Y, Tan J, Liang L, Zhu T. Clinical utility in infants with suspected monogenic conditions through next-generation sequencing. Mol Genet Genomic Med 2019;7:e684. [PMID: 30968598 DOI: 10.1002/mgg3.684] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
5 Yang J, Xiu J, Sun Y, Liu F, Shang X, Li G. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease. J Pediatr Endocrinol Metab 2021. [PMID: 34883003 DOI: 10.1515/jpem-2021-0672] [Reference Citation Analysis]
6 Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Álvarez JV, Chans R, Laranjeira F, Martins E, Ferreira AC, Avila-Alvarez A, Couce ML. Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center. Genes (Basel) 2021;12:1262. [PMID: 34440436 DOI: 10.3390/genes12081262] [Reference Citation Analysis]
7 He X, Zhang N, Cao W, Xing Y, Yang N. Application Progress of High-Throughput Sequencing in Ocular Diseases. J Clin Med 2022;11:3485. [PMID: 35743555 DOI: 10.3390/jcm11123485] [Reference Citation Analysis]
8 de Castro MJ, González-Vioque E, Barbosa-Gouveia S, Salguero E, Rite S, López-Suárez O, Pérez-Muñuzuri A, Couce ML. Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease. J Clin Med 2020;9:E2362. [PMID: 32718099 DOI: 10.3390/jcm9082362] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
9 Schuler BA, Nelson ET, Koziura M, Cogan JD, Hamid R, Phillips JA 3rd. Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases. J Clin Invest 2022;132:e154942. [PMID: 35362483 DOI: 10.1172/JCI154942] [Reference Citation Analysis]
10 Xiao T, Zhou W. The third generation sequencing: the advanced approach to genetic diseases. Transl Pediatr 2020;9:163-73. [PMID: 32477917 DOI: 10.21037/tp.2020.03.06] [Cited by in Crossref: 14] [Cited by in F6Publishing: 8] [Article Influence: 7.0] [Reference Citation Analysis]
11 Liu W. Journal of Translational Medicine advances in Translational Genomics and Genetics Era. J Transl Med 2019;17:134. [PMID: 31023327 DOI: 10.1186/s12967-019-1874-7] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
12 Fernandez-Marmiesse A, Gouveia S, Couce ML. NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. Curr Med Chem 2018;25:404-32. [PMID: 28721829 DOI: 10.2174/0929867324666170718101946] [Cited by in Crossref: 56] [Cited by in F6Publishing: 49] [Article Influence: 14.0] [Reference Citation Analysis]
13 Muskens IS, Zhang C, de Smith AJ, Biegel JA, Walsh KM, Wiemels JL. Germline genetic landscape of pediatric central nervous system tumors. Neuro Oncol 2019;21:1376-88. [PMID: 31247102 DOI: 10.1093/neuonc/noz108] [Cited by in Crossref: 7] [Cited by in F6Publishing: 4] [Article Influence: 3.5] [Reference Citation Analysis]