The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
Open accessAbstract
Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of mental retardation with distinct facial features and elevated serum alkaline phosphatase. We performed whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and performed computational inference of regions identical by descent in all siblings to establish PIGV, encoding a member of the GPI-anchor biosynthesis pathway, as the gene mutated in HPMR. We identified homozygous or compound heterozygous mutations in PIGV in three additional families.
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Cites
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030
Exome sequencing identifies the cause of a mendelian disorder
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Roach, J. C., Glusman, G., Smit, A. F. A., Huff, C. D., Hubley, R., Shannon, P. T., Rowen, L., Pant, K. P., Goodman, N., Bamshad, M., et al. (2010) · Science · doi:10.1126/science.1186802 · Cited by 1,084
Cited by
Human Genome Sequencing in Health and Disease
Gonzaga-Jauregui, C., Lupski, J. R., & Gibbs, R. A. (2012) · Annual Review of Medicine · doi:10.1146/annurev-med-051010-162644 · Cited by 473
Exome sequencing and the genetic basis of complex traits
Kiezun, A., Garimella, K., Do, R., Stitziel, N. O., Neale, B. M., McLaren, P. J., Gupta, N., Sklar, P., Sullivan, P. F., Moran, J. L., et al. (2012) · Nature Genetics · doi:10.1038/ng.2303 · Cited by 372
Biosynthesis and biology of mammalian GPI-anchored proteins
Kinoshita, T. (2020) · Open Biology · doi:10.1098/rsob.190290 · Cited by 341
Self-citationPyridoxine dependent epilepsy and antiquitin deficiency
Stockler, S., Plecko, B., Gospe, S. M., Coulter-Mackie, M., Connolly, M., van Karnebeek, C., Mercimek-Mahmutoglu, S., Hartmann, H., Scharer, G., Struijs, E., et al. (2011) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.05.014 · Cited by 305
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
Puffenberger, E. G., Jinks, R. N., Sougnez, C., Cibulskis, K., Willert, R. A., Achilly, N. P., Cassidy, R. P., Fiorentini, C. J., Heiken, K. F., Lawrence, J. J., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0028936 · Cited by 286
Metadata
- Authors
- Krawitz, P. M., Schweiger, M. R., Rödelsperger, C., Marcelis, C., Kölsch, U., Meisel, C., Stephani, F., Kinoshita, T., Murakami, Y., Bauer, S., Isau, M., Fischer, A., Dahl, A., Kerick, M., Hecht, J., Köhler, S., Jäger, M., Grünhagen, J., de Condor, B. J., Doelken, S., Brunner, H. G., Meinecke, P., Passarge, E., Thompson, M. D., Cole, D. E., Horn, D., Roscioli, T., Mundlos, S., & Robinson, P. N.
- Venue
- Nature Genetics
- Published
- 2010-08-29
- Volume
- 42
- Issue
- 10
- Pages
- 827-829
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2110747516
- Cited by
- 299
- References
- 3
- FWCI
- 22.97
- Type
- journal article
- Language
- en
- Open access
- green
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