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For: Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JHM, Ainsworth P, Waye JS, Sadikovic B. Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. J Mol Diagn 2016;18:657-67. [PMID: 27376475 DOI: 10.1016/j.jmoldx.2016.04.002] [Cited by in Crossref: 31] [Cited by in F6Publishing: 30] [Article Influence: 5.2] [Reference Citation Analysis]
Number Citing Articles
1 Kamps R, Brandão RD, Bosch BJ, Paulussen AD, Xanthoulea S, Blok MJ, Romano A. Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification. Int J Mol Sci 2017;18:E308. [PMID: 28146134 DOI: 10.3390/ijms18020308] [Cited by in Crossref: 193] [Cited by in F6Publishing: 161] [Article Influence: 38.6] [Reference Citation Analysis]
2 Germani A, Libi F, Maggi S, Stanzani G, Lombardi A, Pellegrini P, Mattei M, De Marchis L, Amanti C, Pizzuti A, Torrisi MR, Piane M. Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline. Oncotarget 2018;9:33648-55. [PMID: 30263092 DOI: 10.18632/oncotarget.26000] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
3 Kerkhof J, Schenkel LC, Reilly J, Mcrobbie S, Aref-eshghi E, Stuart A, Rupar CA, Adams P, Hegele RA, Lin H, Rodenhiser D, Knoll J, Ainsworth PJ, Sadikovic B. Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels. The Journal of Molecular Diagnostics 2017;19:905-20. [DOI: 10.1016/j.jmoldx.2017.07.004] [Cited by in Crossref: 71] [Cited by in F6Publishing: 66] [Article Influence: 14.2] [Reference Citation Analysis]
4 Volodarsky M, Kerkhof J, Stuart A, Levy M, Brady LI, Tarnopolsky M, Lin H, Ainsworth P, Sadikovic B. Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients. J Med Genet 2021;58:284-8. [PMID: 32376792 DOI: 10.1136/jmedgenet-2019-106641] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
5 Shin S, Kim Y, Chul Oh S, Yu N, Lee ST, Rak Choi J, Lee KA. Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing. Oncotarget. 2017;8:34858-34866. [PMID: 28422718 DOI: 10.18632/oncotarget.16799] [Cited by in Crossref: 25] [Cited by in F6Publishing: 21] [Article Influence: 6.3] [Reference Citation Analysis]
6 Kim MJ, Lee S, Yun H, Cho SI, Kim B, Lee JS, Chae JH, Sun C, Park SS, Seong MW. Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data. Genet Med 2021:S1098-3600(21)05377-6. [PMID: 34906491 DOI: 10.1016/j.gim.2021.10.025] [Reference Citation Analysis]
7 Välipakka S, Savarese M, Sagath L, Arumilli M, Giugliano T, Udd B, Hackman P. Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model. The Journal of Molecular Diagnostics 2020;22:40-9. [DOI: 10.1016/j.jmoldx.2019.08.009] [Cited by in Crossref: 3] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
8 Brady L, Sadikovic B, Rupar CA, Tarnopolsky MA. Complete elimination of a pathogenic homoplasmic mtDNA mutation in one generation. Mitochondrion 2019;45:18-21. [PMID: 29408632 DOI: 10.1016/j.mito.2018.01.010] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
9 Fiorentino M, Scarpelli M, Lopez-Beltran A, Cheng L, Montironi R. Considerations for standardizing predictive molecular pathology for cancer prognosis. Expert Rev Mol Diagn 2017;17:47-55. [PMID: 27897454 DOI: 10.1080/14737159.2017.1266258] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
10 Creeden JF, Nanavaty NS, Einloth KR, Gillman CE, Stanbery L, Hamouda DM, Dworkin L, Nemunaitis J. Homologous recombination proficiency in ovarian and breast cancer patients. BMC Cancer 2021;21:1154. [PMID: 34711195 DOI: 10.1186/s12885-021-08863-9] [Reference Citation Analysis]
11 Ahmadloo S, Nakaoka H, Hayano T, Hosomichi K, You H, Utsuno E, Sangai T, Nishimura M, Matsushita K, Hata A, Nomura F, Inoue I. Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2. J Hum Genet 2017;62:561-7. [DOI: 10.1038/jhg.2017.5] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 2.2] [Reference Citation Analysis]
12 Zelli V, Compagnoni C, Cannita K, Capelli R, Capalbo C, Di Vito Nolfi M, Alesse E, Zazzeroni F, Tessitore A. Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer. High Throughput 2020;9:E1. [PMID: 31936873 DOI: 10.3390/ht9010001] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
13 Bhai P, Levy MA, Rooney K, Carere DA, Reilly J, Kerkhof J, Volodarsky M, Stuart A, Kadour M, Panabaker K, Schenkel LC, Lin H, Ainsworth P, Sadikovic B. Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach. Front Genet 2021;12:698595. [PMID: 34326862 DOI: 10.3389/fgene.2021.698595] [Reference Citation Analysis]
14 Loree JM, Kopetz S, Raghav KP. Current companion diagnostics in advanced colorectal cancer; getting a bigger and better piece of the pie. J Gastrointest Oncol 2017;8:199-212. [PMID: 28280626 DOI: 10.21037/jgo.2017.01.01] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 2.8] [Reference Citation Analysis]
15 Adegbola A, Lutz R, Nikkola E, Strom SP, Picker J, Wynshaw-Boris A. Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia. HGG Adv 2020;1:100007. [PMID: 33718894 DOI: 10.1016/j.xhgg.2020.100007] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
16 Tarnopolsky MA, Sundaram ANE, Provias J, Brady L, Sadikovic B. CPEO - Like mitochondrial myopathy associated with m.8340G>A mutation. Mitochondrion 2019;46:69-72. [PMID: 29501485 DOI: 10.1016/j.mito.2018.02.008] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
17 Rehm HL. Evolving health care through personal genomics. Nat Rev Genet 2017;18:259-67. [PMID: 28138143 DOI: 10.1038/nrg.2016.162] [Cited by in Crossref: 58] [Cited by in F6Publishing: 48] [Article Influence: 11.6] [Reference Citation Analysis]
18 Grafodatskaya D, O'Rielly DD, Bedard K, Butcher DT, Howlett CJ, Lytwyn A, McCready E, Parboosingh J, Spriggs EL, Vaags AK, Stockley TL. Practice guidelines for BRCA1/2 tumour testing in ovarian cancer. J Med Genet 2022:jmedgenet-2021-108238. [PMID: 35393334 DOI: 10.1136/jmedgenet-2021-108238] [Reference Citation Analysis]
19 Nicolussi A, Belardinilli F, Silvestri V, Mahdavian Y, Valentini V, D'Inzeo S, Petroni M, Zani M, Ferraro S, Di Giulio S, Fabretti F, Fratini B, Gradilone A, Ottini L, Giannini G, Coppa A, Capalbo C. Identification of novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data. PeerJ 2019;7:e7972. [PMID: 31741787 DOI: 10.7717/peerj.7972] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
20 Garg S, Grenier S, Misyura M, Sukhai MA, Thomas M, Kamel-Reid S, Stockley T. Assessing the Diagnostic Yield of Targeted Next-Generation Sequencing for Melanoma and Gastrointestinal Tumors. J Mol Diagn 2020;22:467-75. [PMID: 32036084 DOI: 10.1016/j.jmoldx.2019.12.008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
21 Lu J, Mubaraki A, Yan C, Provias J, Tarnopolsky MA. Neurogenic Muscle Biopsy Findings Are Common in Mitochondrial Myopathy. Journal of Neuropathology & Experimental Neurology 2019;78:508-14. [DOI: 10.1093/jnen/nlz029] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
22 Sim WC, Lee CY, Richards R, Bettens K, Mottier V, Goh LL. Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing. Exp Mol Pathol 2020;116:104483. [PMID: 32531196 DOI: 10.1016/j.yexmp.2020.104483] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
23 Chen AT, Brady L, Bulman DE, Sundaram ANE, Rodriguez AR, Margolin E, Waye JS, Tarnopolsky MA. An evaluation of genetic causes and environmental risks for bilateral optic atrophy. PLoS One 2019;14:e0225656. [PMID: 31765440 DOI: 10.1371/journal.pone.0225656] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
24 Heighton JN, Brady LI, Sadikovic B, Bulman DE, Tarnopolsky MA. Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort. Mitochondrion 2019;49:227-31. [PMID: 31521625 DOI: 10.1016/j.mito.2019.09.002] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 2.7] [Reference Citation Analysis]
25 Chinn IK, Chan AY, Chen K, Chou J, Dorsey MJ, Hajjar J, Jongco AM 3rd, Keller MD, Kobrynski LJ, Kumanovics A, Lawrence MG, Leiding JW, Lugar PL, Orange JS, Patel K, Platt CD, Puck JM, Raje N, Romberg N, Slack MA, Sullivan KE, Tarrant TK, Torgerson TR, Walter JE. Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology. J Allergy Clin Immunol 2020;145:46-69. [PMID: 31568798 DOI: 10.1016/j.jaci.2019.09.009] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 6.7] [Reference Citation Analysis]
26 Kubiritova Z, Gyuraszova M, Nagyova E, Hyblova M, Harsanyova M, Budis J, Hekel R, Gazdarica J, Duris F, Kadasi L, Szemes T, Radvanszky J. On the critical evaluation and confirmation of germline sequence variants identified using massively parallel sequencing. Journal of Biotechnology 2019;298:64-75. [DOI: 10.1016/j.jbiotec.2019.04.013] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
27 Dyment DA, Prasad AN, Boycott KM, Ediae GU, Hartley T, Hassan A, Muir KE, Potter M, Boisse Lomax L, Jarinova O, Sadikovic B, Stavropoulos DJ, Snead OC. Implementation of Epilepsy Multigene Panel Testing in Ontario, Canada. Can J Neurol Sci 2020;47:61-8. [DOI: 10.1017/cjn.2019.304] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
28 Chinn IK, Bostwick BL. The role of genomic approaches in diagnosis and management of primary immunodeficiency. Curr Opin Pediatr 2018;30:791-7. [PMID: 30234646 DOI: 10.1097/MOP.0000000000000695] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
29 Aref-Eshghi E, Kerkhof J, Carere DA, Volodarsky M, Bhai P, Colaiacovo S, Saleh M, Caudle M, Karp N, Prasad C, Balci T, Lin H, Campbell C, Siu VM, Sadikovic B. Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario. J Hum Genet 2021;66:451-64. [PMID: 33093641 DOI: 10.1038/s10038-020-00860-3] [Reference Citation Analysis]
30 Hao X, Li C, Lv Y, Zhou T, Tian H, Ma Y, Ding J, Li X, Wang Y, Wang L, Yang P. MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease. Mol Genet Genomic Med 2022;:e1890. [PMID: 35174662 DOI: 10.1002/mgg3.1890] [Reference Citation Analysis]
31 Tarnopolsky MA, Kerkhof J, Stuart A, Bujak A, Nilsson MI, Hettinga B, May L, Rupar CA, Sadikovic B. Bone marrow-derived mitochondrial DNA has limited capacity for inter-tissue transfer in vivo. FASEB J 2020;34:9297-306. [PMID: 32441840 DOI: 10.1096/fj.202000463R] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
32 Tsuyuki S, Takeshima H, Sekine S, Yamagata Y, Ando T, Yamashita S, Maeda S, Yoshikawa T, Ushijima T. Comparable genetic alteration profiles between gastric cancers with current and past Helicobacter pylori infection. Sci Rep 2021;11:23443. [PMID: 34873204 DOI: 10.1038/s41598-021-02761-7] [Reference Citation Analysis]
33 Qian Z, Grand K, Freedman A, Nieto MC, Behlmann A, Schweiger BM, Sanchez-Lara PA. Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development. Am J Med Genet A 2021;185:2782-8. [PMID: 34050715 DOI: 10.1002/ajmg.a.62373] [Reference Citation Analysis]
34 Levy MA, Kerkhof J, Belmonte FR, Kaufman BA, Bhai P, Brady L, Bursztyn LLCD, Tarnopolsky M, Rupar T, Sadikovic B. Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population. Am J Med Genet A 2021;185:486-99. [PMID: 33300680 DOI: 10.1002/ajmg.a.61998] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
35 Vysotskaia VS, Hogan GJ, Gould GM, Wang X, Robertson AD, Haas KR, Theilmann MR, Spurka L, Grauman PV, Lai HH, Jeon D, Haliburton G, Leggett M, Chu CS, Iori K, Maguire JR, Ready K, Evans EA, Kang HP, Haque IS. Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment. PeerJ 2017;5:e3046. [PMID: 28243543 DOI: 10.7717/peerj.3046] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 3.2] [Reference Citation Analysis]
36 Han E, Yoo J, Chae H, Lee S, Kim DH, Kim KJ, Kim Y, Kim M. Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing. Clin Chim Acta 2020;505:49-54. [PMID: 32092317 DOI: 10.1016/j.cca.2020.02.023] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]