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Page 1
Newborn and carrier screening for spinal muscular atrophy.
Prior TW, Snyder PJ, Rink BD, Pearl DK, Pyatt RE, Mihal DC, Conlan T, Schmalz B, Montgomery L, Ziegler K, Noonan C, Hashimoto S, Garner S. Prior TW, et al. Among authors: snyder pj. Am J Med Genet A. 2010 Jul;152A(7):1608-16. doi: 10.1002/ajmg.a.33474. Am J Med Genet A. 2010. PMID: 20578137
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype.
Ruhno C, McGovern VL, Avenarius MR, Snyder PJ, Prior TW, Nery FC, Muhtaseb A, Roggenbuck JS, Kissel JT, Sansone VA, Siranosian JJ, Johnstone AJ, Nwe PH, Zhang RZ, Swoboda KJ, Burghes AHM. Ruhno C, et al. Among authors: snyder pj. Hum Genet. 2019 Mar;138(3):241-256. doi: 10.1007/s00439-019-01983-0. Epub 2019 Feb 20. Hum Genet. 2019. PMID: 30788592 Free PMC article.
Spectrum of small mutations in the dystrophin coding region.
Prior TW, Bartolo C, Pearl DK, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Mendell JR. Prior TW, et al. Among authors: snyder pj. Am J Hum Genet. 1995 Jul;57(1):22-33. Am J Hum Genet. 1995. PMID: 7611292 Free PMC article.
Germline mosaicism at the fragile X locus.
Prior TW, Papp AC, Snyder PJ, Sedra MS, Guida M, Enrile BG. Prior TW, et al. Among authors: snyder pj. Am J Med Genet. 1995 Jan 30;55(3):384-6. doi: 10.1002/ajmg.1320550327. Am J Med Genet. 1995. PMID: 7726241
A novel splice site mutation in a Becker muscular dystrophy patient.
Bartolo C, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Hall CD, Mendell JR, Prior TW. Bartolo C, et al. Among authors: snyder pj. J Med Genet. 1996 Apr;33(4):324-7. doi: 10.1136/jmg.33.4.324. J Med Genet. 1996. PMID: 8730289 Free PMC article.
Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.
Mailman MD, Hemingway T, Darsey RL, Glasure CE, Huang Y, Chadwick RB, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Schafer RW, Abuelo DN, Reich EW, Theil KS, Burghes AH, de la Chapelle A, Prior TW. Mailman MD, et al. Among authors: snyder pj. Hum Genet. 2001 Feb;108(2):109-15. doi: 10.1007/s004390000446. Hum Genet. 2001. PMID: 11281448
582 results