Reshmi SC - Search Results

1

Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.

Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP. Reshmi SC, et al. Blood. 2017 Jun 22;129(25):3352-3361. doi: 10.1182/blood-2016-12-758979. Epub 2017 Apr 13. Blood. 2017. PMID: 28408464 Free PMC article. Clinical Trial.

2

Novel diagnostic features of dysferlinopathies.

Rosales XQ, Gastier-Foster JM, Lewis S, Vinod M, Thrush DL, Astbury C, Pyatt R, Reshmi S, Sahenk Z, Mendell JR. Rosales XQ, et al. Muscle Nerve. 2010 Jul;42(1):14-21. doi: 10.1002/mus.21650. Muscle Nerve. 2010. PMID: 20544924 Free PMC article.

3

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization.

Cottrell CE, Prior TW, Pyatt R, Astbury C, Reshmi S, Bartholomew D, Atkin J, Manickam K, Thrush DL, Pastore M, Mendell J, Tsao CY, Al-Dahhak R, Newmeyer A, Gastier-Foster JM. Cottrell CE, et al. Am J Med Genet A. 2010 Sep;152A(9):2301-7. doi: 10.1002/ajmg.a.33532. Am J Med Genet A. 2010. PMID: 20683981

4

Outcome modeling with CRLF2, IKZF1, JAK, and minimal residual disease in pediatric acute lymphoblastic leukemia: a Children's Oncology Group study.

Chen IM, Harvey RC, Mullighan CG, Gastier-Foster J, Wharton W, Kang H, Borowitz MJ, Camitta BM, Carroll AJ, Devidas M, Pullen DJ, Payne-Turner D, Tasian SK, Reshmi S, Cottrell CE, Reaman GH, Bowman WP, Carroll WL, Loh ML, Winick NJ, Hunger SP, Willman CL. Chen IM, et al. Blood. 2012 Apr 12;119(15):3512-22. doi: 10.1182/blood-2011-11-394221. Epub 2012 Feb 24. Blood. 2012. PMID: 22368272 Free PMC article.

5

Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.

Repnikova EA, Astbury C, Reshmi SC, Ramsey SN, Atkin JF, Thrush DL, Mitchell AL, Pyatt RE, Reber K, Slavin T, Gastier-Foster JM. Repnikova EA, et al. Among authors: reshmi sc. Am J Med Genet A. 2012 Aug;158A(8):1924-33. doi: 10.1002/ajmg.a.35477. Epub 2012 Jul 11. Am J Med Genet A. 2012. PMID: 22786685

6

12q14 microdeletion associated with HMGA2 gene disruption and growth restriction.

Alyaqoub F, Pyatt RE, Bailes A, Brock A, Deeg C, McKinney A, Astbury C, Reshmi S, Shane KP, Thrush DL, Sommer A, Gastier-Foster JM. Alyaqoub F, et al. Am J Med Genet A. 2012 Nov;158A(11):2925-30. doi: 10.1002/ajmg.a.35610. Epub 2012 Sep 14. Am J Med Genet A. 2012. PMID: 22987822

7

Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation.

Rosales XQ, Malik V, Sneh A, Chen L, Lewis S, Kota J, Gastier-Foster JM, Astbury C, Pyatt R, Reshmi S, Rodino-Klapac LR, Clark KR, Mendell JR, Sahenk Z. Rosales XQ, et al. Muscle Nerve. 2013 May;47(5):731-9. doi: 10.1002/mus.23669. Epub 2013 Mar 29. Muscle Nerve. 2013. PMID: 23553538 Free PMC article.

8

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.

Polan MB, Pastore MT, Steingass K, Hashimoto S, Thrush DL, Pyatt R, Reshmi S, Gastier-Foster JM, Astbury C, McBride KL. Polan MB, et al. Eur J Hum Genet. 2014 Jan;22(1):105-9. doi: 10.1038/ejhg.2013.99. Epub 2013 May 22. Eur J Hum Genet. 2014. PMID: 23695283 Free PMC article.

9

A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.

Hickey SE, Thrush DL, Walters-Sen L, Reshmi SC, Astbury C, Gastier-Foster JM, Atkin J. Hickey SE, et al. Among authors: reshmi sc. Eur J Med Genet. 2013 Sep;56(9):510-4. doi: 10.1016/j.ejmg.2013.05.010. Epub 2013 Jul 13. Eur J Med Genet. 2013. PMID: 23856564

10

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.

Repnikova EA, Rosenfeld JA, Bailes A, Weber C, Erdman L, McKinney A, Ramsey S, Hashimoto S, Lamb Thrush D, Astbury C, Reshmi SC, Shaffer LG, Gastier-Foster JM, Pyatt RE. Repnikova EA, et al. Among authors: reshmi sc. Forensic Sci Int Genet. 2013 Sep;7(5):475-81. doi: 10.1016/j.fsigen.2013.05.008. Epub 2013 Jun 28. Forensic Sci Int Genet. 2013. PMID: 23948316

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