The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index.
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing
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Citations
Cites
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., Braxton, A., Beuten, J., Xia, F., Niu, Z., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1306555 · Cited by 1,964
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Choi, M., Scholl, U. I., Ji, W., Liu, T., Tikhonova, I. R., Zumbo, P., Nayir, A., Bakkaloğlu, A., Özen, S., Sanjad, S., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910672106 · Cited by 1,329
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science · doi:10.1126/science.1215040 · Cited by 1,272
Self-citationGenome sequencing identifies major causes of severe intellectual disability
Gilissen, C., Hehir-Kwa, J. Y., Thung, D. T., van de Vorst, M., van Bon, B. W. M., Willemsen, M. H., Kwint, M., Janssen, I. M., Hoischen, A., Schenck, A., et al. (2014) · Nature · doi:10.1038/nature13394 · Cited by 1,125
The diagnosis of cystic fibrosis: A consensus statement
Rosenstein, B. J., & Cutting, G. R. (1998) · The Journal of Pediatrics · doi:10.1016/s0022-3476(98)70344-0 · Cited by 1,086
De novo mutations in histone-modifying genes in congenital heart disease
Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature · doi:10.1038/nature12141 · Cited by 934
Worthey, E. A., Mayer, A. N., Syverson, G. D., Helbling, D., Bonacci, B. B., Decker, B., Serpe, J. M., Dasu, T., Tschannen, M. R., Veith, R. L., et al. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182088158 · Cited by 711
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
Saunders, C. J., Miller, N. A., Soden, S. E., Dinwiddie, D. L., Noll, A., Alnadi, N. A., Andraws, N., Patterson, M. L., Krivohlavek, L. A., Fellis, J., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004041 · Cited by 656
Disease gene identification strategies for exome sequencing
Gilissen, C., Hoischen, A., Brunner, H. G., & Veltman, J. A. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.258 · Cited by 460
Clinical application of exome sequencing in undiagnosed genetic conditions
Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M. T., Meisler, M. H., & Goldstein, D. B. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-100819 · Cited by 438
Cited by
Clinical application of whole-exome sequencing across clinical indications
Retterer, K., Juusola, J., Cho, M. T., Vitazka, P., Millan, F., Gibellini, F., Vertino-Bell, A., Smaoui, N., Neidich, J., Monaghan, K. G., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.148 · Cited by 1,035
Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., Firth, H. V., Frazier, T., Hansen, R. L., Prock, L., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0554-6 · Cited by 695
Walsh, R., Thomson, K. L., Ware, J. S., Funke, B. H., Woodley, J., McGuire, K. J., Mazzarotto, F., Blair, E., Seller, A., Taylor, J. C., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2016.90 · Cited by 734
Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
Best practices for benchmarking germline small-variant calls in human genomes
the Global Alliance for Genomics and Health Benchmarking Team, Krusche, P., Trigg, L., Boutros, P. C., Mason, C. E., De La Vega, F. M., Moore, B. L., Gonzalez-Porta, M., Eberle, M. A., Tezak, Z., et al. (2019) · Nature Biotechnology · doi:10.1038/s41587-019-0054-x · Cited by 429
Metadata
- Authors
- Xue, Y., Ankala, A., Wilcox, W. R., & Hegde, M. R.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2015-06
- Volume
- 17
- Issue
- 6
- Pages
- 444-451
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2085873939
- Cited by
- 349
- References
- 41
- FWCI
- 19.61
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. https://app.cochat.ai/papers/10.1038/gim.2014.122
- The paper
- Xue, Y., Ankala, A., Wilcox, W. R., & Hegde, M. R. (2015). Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genetics in Medicine. https://doi.org/10.1038/gim.2014.122
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
