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For: Rehm HL. Disease-targeted sequencing: a cornerstone in the clinic. Nat Rev Genet. 2013;14:295-300. [PMID: 23478348 DOI: 10.1038/nrg3463] [Cited by in Crossref: 283] [Cited by in F6Publishing: 240] [Article Influence: 31.4] [Reference Citation Analysis]
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8 Kluska A, Kulecka M, Litwin T, Dziezyc K, Balabas A, Piatkowska M, Paziewska A, Dabrowska M, Mikula M, Kaminska D, Wiernicka A, Socha P, Czlonkowska A, Ostrowski J. Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype. Liver Int 2019;39:177-86. [DOI: 10.1111/liv.13967] [Cited by in Crossref: 15] [Cited by in F6Publishing: 12] [Article Influence: 3.8] [Reference Citation Analysis]
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10 Zhou C, Niu Y, Xu H, Li Z, Wang T, Yang W, Wang S, Wang DW, Liu J. Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism. Fertil Steril 2018;110:486-495.e5. [PMID: 30098700 DOI: 10.1016/j.fertnstert.2018.04.010] [Cited by in Crossref: 17] [Cited by in F6Publishing: 15] [Article Influence: 5.7] [Reference Citation Analysis]
11 Cabanillas R, Diñeiro M, Cifuentes GA, Castillo D, Pruneda PC, Álvarez R, Sánchez-Durán N, Capín R, Plasencia A, Viejo-Díaz M, García-González N, Hernando I, Llorente JL, Repáraz-Andrade A, Torreira-Banzas C, Rosell J, Govea N, Gómez-Martínez JR, Núñez-Batalla F, Garrote JA, Mazón-Gutiérrez Á, Costales M, Isidoro-García M, García-Berrocal B, Ordóñez GR, Cadiñanos J. Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. BMC Med Genomics 2018;11:58. [PMID: 29986705 DOI: 10.1186/s12920-018-0375-5] [Cited by in Crossref: 32] [Cited by in F6Publishing: 26] [Article Influence: 8.0] [Reference Citation Analysis]
12 Kamps-Hughes N, McUsic A, Kurihara L, Harkins TT, Pal P, Ray C, Ionescu-Zanetti C. ERASE-Seq: Leveraging replicate measurements to enhance ultralow frequency variant detection in NGS data. PLoS One 2018;13:e0195272. [PMID: 29630678 DOI: 10.1371/journal.pone.0195272] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 4.0] [Reference Citation Analysis]
13 Girolami F, Frisso G, Benelli M, Crotti L, Iascone M, Mango R, Mazzaccara C, Pilichou K, Arbustini E, Tomberli B, Limongelli G, Basso C, Olivotto I. Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications. J Cardiovasc Med (Hagerstown) 2018;19:1-11. [PMID: 29176389 DOI: 10.2459/JCM.0000000000000589] [Cited by in Crossref: 27] [Cited by in F6Publishing: 13] [Article Influence: 6.8] [Reference Citation Analysis]
14 Vahidnezhad H, Youssefian L, Zeinali S, Saeidian AH, Sotoudeh S, Mozafari N, Abiri M, Kajbafzadeh A, Barzegar M, Ertel A, Fortina P, Uitto J. Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages. Journal of Investigative Dermatology 2017;137:660-9. [DOI: 10.1016/j.jid.2016.10.023] [Cited by in Crossref: 30] [Cited by in F6Publishing: 28] [Article Influence: 6.0] [Reference Citation Analysis]
15 Au TH, Wang K, Stenehjem D, Garrido-Laguna I. Personalized and precision medicine: integrating genomics into treatment decisions in gastrointestinal malignancies. J Gastrointest Oncol 2017;8:387-404. [PMID: 28736627 DOI: 10.21037/jgo.2017.01.04] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.8] [Reference Citation Analysis]
16 Costa S, Regier DA, Meissner B, Cromwell I, Ben-Neriah S, Chavez E, Hung S, Steidl C, Scott DW, Marra MA, Peacock SJ, Connors JM. A time-and-motion approach to micro-costing of high-throughput genomic assays. Curr Oncol 2016;23:304-13. [PMID: 27803594 DOI: 10.3747/co.23.2987] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]
17 Yavarna T, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, Lakhani S, AlMulla M, Nawaz Z, Vitazka P, Alkuraya FS, Ben-Omran T. High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders. Hum Genet. 2015;134:967-980. [PMID: 26077850 DOI: 10.1007/s00439-015-1575-0] [Cited by in Crossref: 109] [Cited by in F6Publishing: 104] [Article Influence: 15.6] [Reference Citation Analysis]
18 Muller E, Brault B, Holmes A, Legros A, Jeannot E, Campitelli M, Rousselin A, Goardon N, Frébourg T, Krieger S, Crouet H, Nicolas A, Sastre X, Vaur D, Castéra L. Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care. Cancer Med 2015;4:1484-93. [PMID: 26155992 DOI: 10.1002/cam4.492] [Cited by in Crossref: 22] [Cited by in F6Publishing: 21] [Article Influence: 3.1] [Reference Citation Analysis]
19 Pant S, Weiner R, Marton MJ. Navigating the rapids: the development of regulated next-generation sequencing-based clinical trial assays and companion diagnostics. Front Oncol. 2014;4:78. [PMID: 24860780 DOI: 10.3389/fonc.2014.00078] [Cited by in Crossref: 60] [Cited by in F6Publishing: 46] [Article Influence: 7.5] [Reference Citation Analysis]
20 Almomani R, Marchi M, Sopacua M, Lindsey P, Salvi E, Koning B, Santoro S, Magri S, Smeets HJM, Martinelli Boneschi F, Malik RR, Ziegler D, Hoeijmakers JGJ, Bönhof G, Dib-Hajj S, Waxman SG, Merkies ISJ, Lauria G, Faber CG, Gerrits MM; on behalf on the PROPANE Study Group. Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing. PLoS One 2020;15:e0238467. [PMID: 32877464 DOI: 10.1371/journal.pone.0238467] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
21 Wang X, He F, Yin F, Chen C, Wu L, Yang L, Peng J. The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies. Sci Rep 2016;6:35936. [PMID: 27779215 DOI: 10.1038/srep35936] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 1.8] [Reference Citation Analysis]
22 Amor DJ. Future of whole genome sequencing: The future of whole genome sequencing. J Paediatr Child Health 2015;51:251-4. [DOI: 10.1111/jpc.12634] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.0] [Reference Citation Analysis]
23 Oliver GR, Hart SN, Klee EW. Bioinformatics for clinical next generation sequencing. Clin Chem 2015;61:124-35. [PMID: 25451870 DOI: 10.1373/clinchem.2014.224360] [Cited by in Crossref: 70] [Cited by in F6Publishing: 58] [Article Influence: 8.8] [Reference Citation Analysis]
24 Niazi R, Gonzalez MA, Balciuniene J, Evans P, Sarmady M, Abou Tayoun AN. The Development and Validation of Clinical Exome-Based Panels Using ExomeSlicer: Considerations and Proof of Concept Using an Epilepsy Panel. J Mol Diagn 2018;20:643-52. [PMID: 29936260 DOI: 10.1016/j.jmoldx.2018.05.003] [Cited by in Crossref: 11] [Cited by in F6Publishing: 9] [Article Influence: 2.8] [Reference Citation Analysis]
25 Brandi ML. Lessons from next-generation sequencing in genetic skeletal disorders. Bonekey Rep 2014;3:528. [PMID: 24876929 DOI: 10.1038/bonekey.2014.23] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
26 Jamuar SS, Tan EC. Clinical application of next-generation sequencing for Mendelian diseases. Hum Genomics 2015;9:10. [PMID: 26076878 DOI: 10.1186/s40246-015-0031-5] [Cited by in Crossref: 60] [Cited by in F6Publishing: 52] [Article Influence: 8.6] [Reference Citation Analysis]
27 Savarese M, Di Fruscio G, Tasca G, Ruggiero L, Janssens S, De Bleecker J, Delpech M, Musumeci O, Toscano A, Angelini C, Sacconi S, Santoro L, Ricci E, Claes K, Politano L, Nigro V. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. Neuromuscul Disord 2015;25:533-41. [PMID: 25891276 DOI: 10.1016/j.nmd.2015.03.011] [Cited by in Crossref: 49] [Cited by in F6Publishing: 46] [Article Influence: 7.0] [Reference Citation Analysis]
28 Suhaimi SS, Ab Mutalib NS, Jamal R. Understanding Molecular Landscape of Endometrial Cancer through Next Generation Sequencing: What We Have Learned so Far? Front Pharmacol 2016;7:409. [PMID: 27847479 DOI: 10.3389/fphar.2016.00409] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 1.0] [Reference Citation Analysis]
29 Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau JL, Davit-Beal T, Kaiser AS, Moog U, Richard B, Morrier JJ, Duprez JP, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet JC, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet 2016;53:98-110. [PMID: 26502894 DOI: 10.1136/jmedgenet-2015-103302] [Cited by in Crossref: 63] [Cited by in F6Publishing: 56] [Article Influence: 9.0] [Reference Citation Analysis]
30 Hess J, Kohl T, Kotrová M, Rönsch K, Paprotka T, Mohr V, Hutzenlaub T, Brüggemann M, Zengerle R, Niemann S, Paust N. Library preparation for next generation sequencing: A review of automation strategies. Biotechnology Advances 2020;41:107537. [DOI: 10.1016/j.biotechadv.2020.107537] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 9.0] [Reference Citation Analysis]
31 Van Cauwenberghe C, Van Broeckhoven C, Sleegers K. The genetic landscape of Alzheimer disease: clinical implications and perspectives. Genet Med 2016;18:421-30. [PMID: 26312828 DOI: 10.1038/gim.2015.117] [Cited by in Crossref: 396] [Cited by in F6Publishing: 342] [Article Influence: 56.6] [Reference Citation Analysis]
32 Lincoln SE, Truty R, Lin CF, Zook JM, Paul J, Ramey VH, Salit M, Rehm HL, Nussbaum RL, Lebo MS. A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing. J Mol Diagn 2019;21:318-29. [PMID: 30610921 DOI: 10.1016/j.jmoldx.2018.10.009] [Cited by in Crossref: 21] [Cited by in F6Publishing: 16] [Article Influence: 7.0] [Reference Citation Analysis]
33 Adadey SM, Wonkam-Tingang E, Twumasi Aboagye E, Nayo-Gyan DW, Boatemaa Ansong M, Quaye O, Awandare GA, Wonkam A. Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden. Life (Basel) 2020;10:E258. [PMID: 33126609 DOI: 10.3390/life10110258] [Cited by in Crossref: 2] [Article Influence: 1.0] [Reference Citation Analysis]
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35 Giugliani R, Brusius-facchin A, Pasqualim G, Leistner-segal S, Riegel M, Matte U. Current molecular genetics strategies for the diagnosis of lysosomal storage disorders. Expert Review of Molecular Diagnostics 2015;16:113-23. [DOI: 10.1586/14737159.2016.1121101] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 1.1] [Reference Citation Analysis]
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37 Oliveira TG, Mitne-neto M, Cerdeira LT, Marsiglia JD, Arteaga-fernandez E, Krieger JE, Pereira AC. A Variant Detection Pipeline for Inherited Cardiomyopathy–Associated Genes Using Next-Generation Sequencing. The Journal of Molecular Diagnostics 2015;17:420-30. [DOI: 10.1016/j.jmoldx.2015.02.003] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]
38 Ravegnini G, Sammarini G, Serrano C, Nannini M, Pantaleo MA, Hrelia P, Angelini S. Clinical relevance of circulating molecules in cancer: focus on gastrointestinal stromal tumors. Ther Adv Med Oncol 2019;11:1758835919831902. [PMID: 30854029 DOI: 10.1177/1758835919831902] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 3.0] [Reference Citation Analysis]
39 Storan ER, Irvine AD. Access to Genetic Diagnostics for Genodermatoses: Who Should Get Tested? Why? Who Pays? Pediatr Dermatol 2017;34:105-8. [PMID: 27981618 DOI: 10.1111/pde.13041] [Reference Citation Analysis]
40 Yang S, Lincoln SE, Kobayashi Y, Nykamp K, Nussbaum RL, Topper S. Sources of discordance among germ-line variant classifications in ClinVar. Genet Med 2017;19:1118-26. [PMID: 28569743 DOI: 10.1038/gim.2017.60] [Cited by in Crossref: 58] [Cited by in F6Publishing: 43] [Article Influence: 11.6] [Reference Citation Analysis]
41 Sorrentino FS, Gallenga CE, Bonifazzi C, Perri P. A challenge to the striking genotypic heterogeneity of retinitis pigmentosa: a better understanding of the pathophysiology using the newest genetic strategies. Eye (Lond) 2016;30:1542-8. [PMID: 27564722 DOI: 10.1038/eye.2016.197] [Cited by in Crossref: 28] [Cited by in F6Publishing: 28] [Article Influence: 4.7] [Reference Citation Analysis]
42 Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, González-del Pozo M, Rodríguez-de la Rúa E, Dopazo J, Borrego S, Antiñolo G. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep 2016;6:23910. [PMID: 27032803 DOI: 10.1038/srep23910] [Cited by in Crossref: 34] [Cited by in F6Publishing: 33] [Article Influence: 5.7] [Reference Citation Analysis]
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44 Sadananda SN, Foo JN, Toh MT, Cermakova L, Trigueros-Motos L, Chan T, Liany H, Collins JA, Gerami S, Singaraja RR, Hayden MR, Francis GA, Frohlich J, Khor CC, Brunham LR. Targeted next-generation sequencing to diagnose disorders of HDL cholesterol. J Lipid Res 2015;56:1993-2001. [PMID: 26255038 DOI: 10.1194/jlr.P058891] [Cited by in Crossref: 17] [Cited by in F6Publishing: 7] [Article Influence: 2.4] [Reference Citation Analysis]
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