Das S - Search Results

1

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.

2

A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.

Al-Hashim A, Gonorazky HD, Amburgey K, Das S, Dowling JJ. Al-Hashim A, et al. Among authors: das s. Neurol Genet. 2017 Aug 24;3(5):e182. doi: 10.1212/NXG.0000000000000182. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852708 Free PMC article. No abstract available.

3

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.

4

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.

5

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

6

Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly.

Qashqari H, Ramani A, Gonorazky H, Amburgey K, Ghahramani Seno MM, Brudno M, Naumenko S, Das S, Dowling JJ. Qashqari H, et al. Among authors: das s. Neurology. 2021 Sep 20;97(12):e1253-e1256. doi: 10.1212/WNL.0000000000012265. Neurology. 2021. PMID: 34016710 Free PMC article. No abstract available.

7

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.

8

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

Minor A, Shinawi M, Hogue JS, Vineyard M, Hamlin DR, Tan C, Donato K, Wysinger L, Botes S, Das S, Del Gaudio D. Minor A, et al. Among authors: das s. Gene. 2014 Mar 10;537(2):279-84. doi: 10.1016/j.gene.2013.12.045. Epub 2013 Dec 27. Gene. 2014. PMID: 24378232

9

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.

10

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.

Guidugli L, Johnson AK, Alkorta-Aranburu G, Nelakuditi V, Arndt K, Churpek JE, Godley LA, Townsley D, Young NS, Fitzpatrick C, Del Gaudio D, Das S, Li Z. Guidugli L, et al. Among authors: das s. Leukemia. 2017 May;31(5):1226-1229. doi: 10.1038/leu.2017.28. Epub 2017 Jan 20. Leukemia. 2017. PMID: 28104920 Free PMC article. No abstract available.

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