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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2010 1
2011 1
2013 1
2014 1
2015 1
2016 3
2017 1
2018 1
2019 1
2021 1
2022 1
2024 0

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13 results

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Page 1
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: martell s. 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
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: martell s. JCI Insight. 2016 Mar 17;1(3):e85461. doi: 10.1172/jci.insight.85461. JCI Insight. 2016. PMID: 27699255 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. Among authors: martell s. 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.
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. Among authors: martell s. Mol Cytogenet. 2015 Jan 31;8:6. doi: 10.1186/s13039-015-0109-8. eCollection 2015. Mol Cytogenet. 2015. PMID: 25674159 Free PMC article.
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
Qiao Y, Mondal K, Trapani V, Wen J, Carpenter G, Wildin R, Price EM, Gibbons RJ, Eichmeyer J, Jiang R, DuPont B, Martell S, Lewis SM, Robinson WP, O'Driscoll M, Wolf FI, Zwick ME, Rajcan-Separovic E. Qiao Y, et al. Among authors: martell s. Hum Mutat. 2014 Jan;35(1):58-62. doi: 10.1002/humu.22465. Hum Mutat. 2014. PMID: 24130152
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Wen J, Lopes F, Soares G, Farrell SA, Nelson C, Qiao Y, Martell S, Badukke C, Bessa C, Ylstra B, Lewis S, Isoherranen N, Maciel P, Rajcan-Separovic E. Wen J, et al. Among authors: martell s. Orphanet J Rare Dis. 2013 Jul 10;8:100. doi: 10.1186/1750-1172-8-100. Orphanet J Rare Dis. 2013. PMID: 23837398 Free PMC article.
13 results