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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2003 | 1 |
2013 | 2 |
2015 | 1 |
2024 | 0 |
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4 results
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Page 1
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.
Brain. 2003 Dec;126(Pt 12):2682-92. doi: 10.1093/brain/awg278. Epub 2003 Sep 23.
Brain. 2003.
PMID: 14506069
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA.
Lupski JR, et al.
Genome Med. 2013 Jun 27;5(6):57. doi: 10.1186/gm461. eCollection 2013.
Genome Med. 2013.
PMID: 23806086
Free PMC article.
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Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM.
Yang Y, et al.
N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.
N Engl J Med. 2013.
PMID: 24088041
Free PMC article.
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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics; Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR.
Gonzaga-Jauregui C, et al.
Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.
Cell Rep. 2015.
PMID: 26257172
Free PMC article.
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