Thrush DL - Search Results

1

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. Among authors: thrush dl. Muscle Nerve. 2010 Jul;42(1):14-21. doi: 10.1002/mus.21650. Muscle Nerve. 2010. PMID: 20544924 Free PMC article.

2

Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.

Cottrell CE, Mendell J, Hart-Kothari M, Ell D, Thrush DL, Astbury C, Pastore M, Gastier-Foster JM, Pyatt RE. Cottrell CE, et al. Among authors: thrush dl. Clin Genet. 2012 Jun;81(6):578-83. doi: 10.1111/j.1399-0004.2011.01681.x. Epub 2011 May 4. Clin Genet. 2012. PMID: 21480868

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. Among authors: thrush dl. 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

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.

Hickey SE, Biswas S, Thrush DL, Pyatt RE, Gastier-Foster JM, Astbury C, Atkin J. Hickey SE, et al. Among authors: thrush dl. Eur J Med Genet. 2013 Sep;56(9):521-5. doi: 10.1016/j.ejmg.2013.07.004. Epub 2013 Jul 26. Eur J Med Genet. 2013. PMID: 23895773

5

Variability in pathogenicity prediction programs: impact on clinical diagnostics.

Walters-Sen LC, Hashimoto S, Thrush DL, Reshmi S, Gastier-Foster JM, Astbury C, Pyatt RE. Walters-Sen LC, et al. Among authors: thrush dl. Mol Genet Genomic Med. 2015 Mar;3(2):99-110. doi: 10.1002/mgg3.116. Epub 2014 Dec 3. Mol Genet Genomic Med. 2015. PMID: 25802880 Free PMC article.

6

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. Among authors: thrush dl. 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.

7

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: thrush dl. 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

8

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. Among authors: thrush dl. 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

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: thrush dl. 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

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. Among authors: thrush dl. 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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