Das S - Search Results

1

Prenatal diagnostic conundrum involving a novel ATP7A duplication.

Schoonveld C, Donsante A, del Gaudio D, Waggoner D, Das S, Kaler SG. Schoonveld C, et al. Among authors: das s. Clin Genet. 2013 Jul;84(1):97-8. doi: 10.1111/cge.12041. Epub 2012 Nov 14. Clin Genet. 2013. PMID: 23151012 Free PMC article. No abstract available.

2

Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory.

Tan CA, del Gaudio D, Dempsey MA, Arndt K, Botes S, Reeder A, Das S. Tan CA, et al. Among authors: das s. Clin Genet. 2014 Apr;85(4):353-8. doi: 10.1111/cge.12172. Epub 2013 May 13. Clin Genet. 2014. PMID: 23611254

3

Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.

Kaler SG, Das S, Levinson B, Goldstein DS, Holmes CS, Patronas NJ, Packman S, Gahl WA. Kaler SG, et al. Among authors: das s. Biochem Mol Med. 1996 Feb;57(1):37-46. doi: 10.1006/bmme.1996.0007. Biochem Mol Med. 1996. PMID: 8812725

4

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis.

Tan CA, Topper S, Del Gaudio D, Nelakuditi V, Shchelochkov O, Nowaczyk MJM, Zeesman S, Brady L, Russell L, Meeks N, Sastry S, Arndt K, Kobiernicki F, Shaw R, Das S. Tan CA, et al. Among authors: das s. Clin Genet. 2016 Apr;89(4):478-483. doi: 10.1111/cge.12575. Epub 2015 Mar 15. Clin Genet. 2016. PMID: 25693842

5

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G, Carmody D, Cheng YW, Nelakuditi V, Ma L, Dickens JT, Das S, Greeley SAW, Del Gaudio D. Alkorta-Aranburu G, et al. Among authors: das s. Mol Genet Metab. 2014 Dec;113(4):315-320. doi: 10.1016/j.ymgme.2014.09.007. Epub 2014 Sep 28. Mol Genet Metab. 2014. PMID: 25306193 Free PMC article.

6

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion.

Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel BA, Robin NH, Waggoner D, Fitzpatrick C, Das S, Del Gaudio D. Cheng YW, et al. Among authors: das s. Mol Genet Genomic Med. 2014 Mar;2(2):115-23. doi: 10.1002/mgg3.48. Epub 2013 Nov 14. Mol Genet Genomic Med. 2014. PMID: 24689074 Free PMC article.

7

Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.

Nolan DK, Chen P, Das S, Ober C, Waggoner D. Nolan DK, et al. Among authors: das s. Am J Med Genet A. 2008 Jun 1;146A(11):1414-22. doi: 10.1002/ajmg.a.32307. Am J Med Genet A. 2008. PMID: 18446860

8

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Warman-Chardon J, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Sun M, et al. Among authors: das s. Genet Med. 2019 Jan;21(1):195-206. doi: 10.1038/s41436-018-0007-7. Epub 2018 Jun 18. Genet Med. 2019. PMID: 29915382 Free PMC article.

9

Large duplication in MTM1 associated with myotubular myopathy.

Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ. Amburgey K, et al. Among authors: das s. Neuromuscul Disord. 2013 Mar;23(3):214-8. doi: 10.1016/j.nmd.2012.11.010. Epub 2012 Dec 28. Neuromuscul Disord. 2013. PMID: 23273872 Free PMC article.

10

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.

Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D. Helgeson M, et al. Among authors: das s. J Hum Genet. 2018 Mar;63(3):349-356. doi: 10.1038/s10038-017-0387-6. Epub 2017 Dec 26. J Hum Genet. 2018. PMID: 29279609

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

16,546 results

Search Page

Filters