Reshmi SC - Search Results

1

Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.

Barrie ES, Li Y, Lamb-Thrush D, Hashimoto S, Matthews T, Mouhlas D, Pyatt R, Reshmi SC, Gastier-Foster JM, Pfau R, Astbury C. Barrie ES, et al. Among authors: reshmi sc. Eur J Med Genet. 2018 Jul;61(7):416-420. doi: 10.1016/j.ejmg.2018.02.008. Epub 2018 Mar 20. Eur J Med Genet. 2018. PMID: 29572065

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

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

5

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

6

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.

7

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.

8

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

9

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

10

Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.

Walters-Sen LC, Thrush DL, Hickey SE, Hashimoto S, Reshmi S, Gastier-Foster JM, Pyatt RE, Astbury C. Walters-Sen LC, et al. Eur J Med Genet. 2014 Jul;57(7):315-8. doi: 10.1016/j.ejmg.2014.04.018. Epub 2014 May 10. Eur J Med Genet. 2014. PMID: 24821304

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