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Clinical whole-exome sequencing: are we there yet?
Atwal PS, Brennan ML, Cox R, Niaki M, Platt J, Homeyer M, Kwan A, Parkin S, Schelley S, Slattery L, Wilnai Y, Bernstein JA, Enns GM, Hudgins L. Atwal PS, et al. Among authors: kwan a. Genet Med. 2014 Sep;16(9):717-9. doi: 10.1038/gim.2014.10. Epub 2014 Feb 13. Genet Med. 2014. PMID: 24525916 Free article.
Clues to an early diagnosis of Kallmann syndrome.
Kaplan JD, Bernstein JA, Kwan A, Hudgins L. Kaplan JD, et al. Among authors: kwan a. Am J Med Genet A. 2010 Nov;152A(11):2796-801. doi: 10.1002/ajmg.a.33442. Am J Med Genet A. 2010. PMID: 20949504
Ectopia lentis as the presenting and primary feature in Marfan syndrome.
Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Zadeh N, et al. Among authors: kwan a. Am J Med Genet A. 2011 Nov;155A(11):2661-8. doi: 10.1002/ajmg.a.34245. Epub 2011 Sep 19. Am J Med Genet A. 2011. PMID: 21932315
848 results