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An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA, Haque IS, Nazareth S, Iori K, Patterson AS, Jacobson JL, Marshall JR, Seltzer WK, Patrizio P, Evans EA, Srinivasan BS. Lazarin GA, et al. Among authors: seltzer wk. Genet Med. 2013 Mar;15(3):178-86. doi: 10.1038/gim.2012.114. Epub 2012 Sep 13. Genet Med. 2013. PMID: 22975760 Free PMC article.
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. Putcha GV, et al. Among authors: seltzer wk. Genet Med. 2007 Jul;9(7):413-26. Genet Med. 2007. PMID: 17666888 Free article.
Mental retardation locus in Xp21 chromosome microdeletion.
Fries MH, Lebo RV, Schonberg SA, Golabi M, Seltzer WK, Gitelman SE, Golbus MS. Fries MH, et al. Among authors: seltzer wk. Am J Med Genet. 1993 Jun 1;46(4):363-8. doi: 10.1002/ajmg.1320460404. Am J Med Genet. 1993. PMID: 8357005
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
McCabe ER, Towbin J, Chamberlain J, Baumbach L, Witkowski J, van Ommen GJ, Koenig M, Kunkel LM, Seltzer WK. McCabe ER, et al. Among authors: seltzer wk. J Clin Invest. 1989 Jan;83(1):95-9. doi: 10.1172/JCI113890. J Clin Invest. 1989. PMID: 2536049 Free PMC article.
54 results