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Page 1
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
Peddibhotla S, Nagamani SC, Erez A, Hunter JV, Holder JL Jr, Carlin ME, Bader PI, Perras HM, Allanson JE, Newman L, Simpson G, Immken L, Powell E, Mohanty A, Kang SH, Stankiewicz P, Bacino CA, Bi W, Patel A, Cheung SW. Peddibhotla S, et al. Among authors: cheung sw. Eur J Hum Genet. 2015 Jan;23(1):54-60. doi: 10.1038/ejhg.2014.51. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736736 Free PMC article. Review.
Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW. Schaaf CP, et al. Among authors: cheung sw. Eur J Hum Genet. 2012 Dec;20(12):1240-7. doi: 10.1038/ejhg.2012.95. Epub 2012 May 23. Eur J Hum Genet. 2012. PMID: 22617343 Free PMC article.
Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
Nagamani SC, Erez A, Eng C, Ou Z, Chinault C, Workman L, Coldwell J, Stankiewicz P, Patel A, Lupski JR, Cheung SW. Nagamani SC, et al. Among authors: cheung sw. Eur J Hum Genet. 2009 May;17(5):573-81. doi: 10.1038/ejhg.2008.220. Epub 2008 Nov 26. Eur J Hum Genet. 2009. PMID: 19034313 Free PMC article.
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, Stankiewicz P, Sutton VR, Cheung SW. Nagamani SC, et al. Among authors: cheung sw. Eur J Hum Genet. 2010 Mar;18(3):278-84. doi: 10.1038/ejhg.2009.174. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844256 Free PMC article.
528 results