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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: erez a. 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: erez a. 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.
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW. Nagamani SC, et al. Among authors: erez a. Eur J Hum Genet. 2011 Mar;19(3):280-6. doi: 10.1038/ejhg.2010.184. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150890 Free PMC article.
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
Bartnik M, Derwińska K, Gos M, Obersztyn E, Kołodziejska KE, Erez A, Szpecht-Potocka A, Fang P, Terczyńska I, Mierzewska H, Lohr NJ, Bellus GA, Reimschisel T, Bocian E, Mazurczak T, Cheung SW, Stankiewicz P. Bartnik M, et al. Among authors: erez a. Genet Med. 2011 May;13(5):447-52. doi: 10.1097/GIM.0b013e31820605f5. Genet Med. 2011. PMID: 21293276 Free article.
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Liu P, et al. Among authors: erez a. Hum Mol Genet. 2011 May 15;20(10):1975-88. doi: 10.1093/hmg/ddr078. Epub 2011 Feb 25. Hum Mol Genet. 2011. PMID: 21355048 Free PMC article.
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SH, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, Bi W. Liu P, et al. Among authors: erez a. Cell. 2011 Sep 16;146(6):889-903. doi: 10.1016/j.cell.2011.07.042. Cell. 2011. PMID: 21925314 Free PMC article.
160 results