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Page 1
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
DeLuca AP, Whitmore SS, Barnes J, Sharma TP, Westfall TA, Scott CA, Weed MC, Wiley JS, Wiley LA, Johnston RM, Schnieders MJ, Lentz SR, Tucker BA, Mullins RF, Scheetz TE, Stone EM, Slusarski DC. DeLuca AP, et al. Among authors: schnieders mj. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ddv446. Epub 2015 Oct 22. Hum Mol Genet. 2016. PMID: 26494905 Free PMC article.
LADD syndrome with glaucoma is caused by a novel gene.
Simpson A, Avdic A, Roos BR, DeLuca A, Miller K, Schnieders MJ, Scheetz TE, Alward WL, Fingert JH. Simpson A, et al. Among authors: schnieders mj. Mol Vis. 2017 Mar 30;23:179-184. eCollection 2017. Mol Vis. 2017. PMID: 28400699 Free PMC article.
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH. Azaiez H, et al. Among authors: schnieders mj. Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20. Am J Hum Genet. 2018. PMID: 30245029 Free PMC article.
PDZD7 and hearing loss: More than just a modifier.
Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ. Booth KT, et al. Among authors: schnieders mj. Am J Med Genet A. 2015 Dec;167A(12):2957-65. doi: 10.1002/ajmg.a.37274. Epub 2015 Sep 29. Am J Med Genet A. 2015. PMID: 26416264 Free PMC article.
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1.
Lansdon LA, Bernabe HV, Nidey N, Standley J, Schnieders MJ, Murray JC. Lansdon LA, et al. Among authors: schnieders mj. J Dent Res. 2017 Oct;96(11):1339-1345. doi: 10.1177/0022034517726496. Epub 2017 Aug 21. J Dent Res. 2017. PMID: 28825856 Free PMC article.
Nanophthalmos patient with a THR518MET mutation in MYRF, a case report.
Hagedorn J, Avdic A, Schnieders MJ, Roos BR, Kwon YH, Drack AV, Boese EA, Fingert JH. Hagedorn J, et al. Among authors: schnieders mj. BMC Ophthalmol. 2020 Oct 1;20(1):388. doi: 10.1186/s12886-020-01659-8. BMC Ophthalmol. 2020. PMID: 33004036 Free PMC article.
High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.
Bu F, Borsa NG, Jones MB, Takanami E, Nishimura C, Hauer JJ, Azaiez H, Black-Ziegelbein EA, Meyer NC, Kolbe DL, Li Y, Frees K, Schnieders MJ, Thomas C, Nester C, Smith RJ. Bu F, et al. Among authors: schnieders mj. J Am Soc Nephrol. 2016 Apr;27(4):1245-53. doi: 10.1681/ASN.2015040385. Epub 2015 Aug 17. J Am Soc Nephrol. 2016. PMID: 26283675 Free PMC article.
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