Del Gaudio D - Search Results

1

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: del gaudio d. 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.

2

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: del gaudio d. 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.

3

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: del gaudio d. 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.

4

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: del gaudio d. Clin Genet. 2014 Apr;85(4):353-8. doi: 10.1111/cge.12172. Epub 2013 May 13. Clin Genet. 2014. PMID: 23611254

5

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.

Pfau RB, Thrush DL, Hamelberg E, Bartholomew D, Botes S, Pastore M, Tan C, del Gaudio D, Gastier-Foster JM, Astbury C. Pfau RB, et al. Among authors: del gaudio d. Eur J Med Genet. 2013 Nov;56(11):609-13. doi: 10.1016/j.ejmg.2013.09.007. Epub 2013 Sep 27. Eur J Med Genet. 2013. PMID: 24080358

6

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: del gaudio d. Gene. 2014 Mar 10;537(2):279-84. doi: 10.1016/j.gene.2013.12.045. Epub 2013 Dec 27. Gene. 2014. PMID: 24378232

7

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: del gaudio d. 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.

8

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: del gaudio d. Clin Genet. 2016 Apr;89(4):478-483. doi: 10.1111/cge.12575. Epub 2015 Mar 15. Clin Genet. 2016. PMID: 25693842

9

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.

Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, Chapman K, del Gaudio D. Li Z, et al. Among authors: del gaudio d. J Hum Genet. 2015 Jul;60(7):363-9. doi: 10.1038/jhg.2015.31. Epub 2015 Mar 26. J Hum Genet. 2015. PMID: 25809939 Free PMC article.

10

Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.

Alkorta-Aranburu G, Sukhanova M, Carmody D, Hoffman T, Wysinger L, Keller-Ramey J, Li Z, Johnson AK, Kobiernicki F, Botes S, Fitzpatrick C, Das S, Del Gaudio D. Alkorta-Aranburu G, et al. Among authors: del gaudio d. J Pediatr Endocrinol Metab. 2016 May 1;29(5):523-31. doi: 10.1515/jpem-2015-0341. J Pediatr Endocrinol Metab. 2016. PMID: 26894574

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