Neilson DE - Search Results

1

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.

Neilson DE, Zech M, Hufnagel RB, Slone J, Wang X, Homan S, Gutzwiller LM, Leslie EJ, Leslie ND, Xiao J, Hedera P, LeDoux MS, Gebelein B, Wilbert F, Eckenweiler M, Winkelmann J, Gilbert DL, Huang T. Neilson DE, et al. Mov Disord. 2022 Feb;37(2):375-383. doi: 10.1002/mds.28821. Epub 2021 Oct 11. Mov Disord. 2022. PMID: 34636445 Free PMC article.

2

Linkage of Metabolic Defects to Activated PIK3CA Alleles in Endothelial Cells Derived from Lymphatic Malformation.

Glaser K, Dickie P, Neilson D, Osborn A, Dickie BH. Glaser K, et al. Lymphat Res Biol. 2018 Feb;16(1):43-55. doi: 10.1089/lrb.2017.0033. Epub 2018 Jan 18. Lymphat Res Biol. 2018. PMID: 29346025

3

Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results.

Matias M, Wusik K, Neilson D, Zhang X, Valencia CA, Collins K. Matias M, et al. J Genet Couns. 2019 Apr;28(2):182-193. doi: 10.1002/jgc4.1054. Epub 2019 Jan 16. J Genet Couns. 2019. PMID: 30648779

4

Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood.

Izumi K, Takagi M, Parikh AS, Hahn A, Miskovsky SN, Nishimura G, Torii C, Kosaki K, Hasegawa T, Neilson DE. Izumi K, et al. Among authors: neilson de. Am J Med Genet A. 2010 Aug;152A(8):2115-9. doi: 10.1002/ajmg.a.33511. Am J Med Genet A. 2010. PMID: 20635356 No abstract available.

5

Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations.

Osborn AJ, Dickie P, Neilson DE, Glaser K, Lynch KA, Gupta A, Dickie BH. Osborn AJ, et al. Among authors: neilson de. Hum Mol Genet. 2015 Feb 15;24(4):926-38. doi: 10.1093/hmg/ddu505. Epub 2014 Oct 6. Hum Mol Genet. 2015. PMID: 25292196

6

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.

Valencia CA, Husami A, Holle J, Johnson JA, Qian Y, Mathur A, Wei C, Indugula SR, Zou F, Meng H, Wang L, Li X, Fisher R, Tan T, Hogart Begtrup A, Collins K, Wusik KA, Neilson D, Burrow T, Schorry E, Hopkin R, Keddache M, Harley JB, Kaufman KM, Zhang K. Valencia CA, et al. Front Pediatr. 2015 Aug 3;3:67. doi: 10.3389/fped.2015.00067. eCollection 2015. Front Pediatr. 2015. PMID: 26284228 Free PMC article.

7

The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center.

Hrabik SA, Standridge SM, Greiner HM, Neilson DE, Pilipenko VV, Zimmerman SL, Connor JA, Spaeth CG. Hrabik SA, et al. Among authors: neilson de. J Child Neurol. 2015 Nov;30(13):1770-7. doi: 10.1177/0883073815579972. Epub 2015 Apr 10. J Child Neurol. 2015. PMID: 25862739

8

Healthcare utilization among youth with Ehlers-Danlos syndrome hypermobile type.

Williams SE, Tran ST, Lynch-Jordan A, Goldschneider KR, Ting TV, Kashikar-Zuck S, Neilson D. Williams SE, et al. Am J Med Genet A. 2022 Apr;188(4):1109-1117. doi: 10.1002/ajmg.a.62625. Epub 2022 Jan 6. Am J Med Genet A. 2022. PMID: 34989147

9

Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort.

Ritter A, Atzinger C, Hays B, James J, Shikany A, Neilson D, Martin L, Weaver KN. Ritter A, et al. Am J Med Genet A. 2017 Jun;173(6):1467-1472. doi: 10.1002/ajmg.a.38243. Epub 2017 Apr 24. Am J Med Genet A. 2017. PMID: 28436618

10

Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.

Sell K, Storch K, Hahn G, Lee-Kirsch MA, Ramantani G, Jackson S, Neilson D, von der Hagen M, Hehr U, Smitka M. Sell K, et al. Brain Dev. 2016 Sep;38(8):777-80. doi: 10.1016/j.braindev.2016.02.007. Epub 2016 Feb 26. Brain Dev. 2016. PMID: 26923722

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