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Page 1
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.
Bagheri H, Badduke C, Qiao Y, Colnaghi R, Abramowicz I, Alcantara D, Dunham C, Wen J, Wildin RS, Nowaczyk MJ, Eichmeyer J, Lehman A, Maranda B, Martell S, Shan X, Lewis SM, O'Driscoll M, Gregory-Evans CY, Rajcan-Separovic E. Bagheri H, et al. Among authors: rajcan separovic e. JCI Insight. 2016 Mar 17;1(3):e85461. doi: 10.1172/jci.insight.85461. JCI Insight. 2016. PMID: 27699255 Free PMC article.
Understanding the impact of 1q21.1 copy number variant.
Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, Martell S, Tyson C, Hrynchak M, McGillivray B, Hamilton S, Marles S, Mhanni A, Dawson AJ, Pavlidis P, Qiao Y, Holden JJ, Lewis SM, O'Driscoll M, Rajcan-Separovic E. Harvard C, et al. Orphanet J Rare Dis. 2011 Aug 8;6:54. doi: 10.1186/1750-1172-6-54. Orphanet J Rare Dis. 2011. PMID: 21824431 Free PMC article.
Genomic characteristics of miscarriage copy number variants.
Bagheri H, Mercier E, Qiao Y, Stephenson MD, Rajcan-Separovic E. Bagheri H, et al. Mol Hum Reprod. 2015 Aug;21(8):655-61. doi: 10.1093/molehr/gav030. Epub 2015 Jun 12. Mol Hum Reprod. 2015. PMID: 26071097 Free PMC article.
Whole exome sequencing of families with 1q21.1 microdeletion or microduplication.
Qiao Y, Badduke C, Tang F, Cowieson D, Martell S, Lewis SME, Peñaherrera MS, Robinson WP, Volchuk A, Rajcan-Separovic E. Qiao Y, et al. Among authors: rajcan separovic e. Am J Med Genet A. 2017 Jul;173(7):1782-1791. doi: 10.1002/ajmg.a.38247. Epub 2017 May 5. Am J Med Genet A. 2017. PMID: 28475290
Functional consequences of copy number variants in miscarriage.
Wen J, Hanna CW, Martell S, Leung PC, Lewis SM, Robinson WP, Stephenson MD, Rajcan-Separovic E. Wen J, et al. Mol Cytogenet. 2015 Jan 31;8:6. doi: 10.1186/s13039-015-0109-8. eCollection 2015. Mol Cytogenet. 2015. PMID: 25674159 Free PMC article.
Whole exome sequencing in recurrent early pregnancy loss.
Qiao Y, Wen J, Tang F, Martell S, Shomer N, Leung PC, Stephenson MD, Rajcan-Separovic E. Qiao Y, et al. Mol Hum Reprod. 2016 May;22(5):364-72. doi: 10.1093/molehr/gaw008. Epub 2016 Jan 28. Mol Hum Reprod. 2016. PMID: 26826164 Free PMC article.
68 results