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Items: 7

1.

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.

Pomerantz DJ, Ferdinandusse S, Cogan J, Cooper DN, Reimschisel T, Robertson A, Bican A, McGregor T, Gauthier J, Millington DS, Andrae JLW, Tschannen MR, Helbling DC, Demos WM, Denis S, Wanders RJA, Newman JN, Hamid R, Phillips JA 3rd; Collaborators of UDN.

Am J Med Genet A. 2018 Mar;176(3):692-698. doi: 10.1002/ajmg.a.38602. Epub 2018 Feb 1.

PMID:
29388319
2.

RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.

Schilter KF, Steiner JE, Demos W, Maheshwari M, Prokop JW, Worthey E, Drolet BA, Siegel DH.

Am J Med Genet A. 2017 Sep;173(9):2557-2561. doi: 10.1002/ajmg.a.38258. Epub 2017 Jul 7.

PMID:
28686325
3.

Structural and Mechanistic Implications of Rearrangement Frequencies within Human TCRBV Genes.

Yassai MB, Demos W, Gorski J.

J Immunol. 2017 Aug 1;199(3):1142-1152. doi: 10.4049/jimmunol.1601450. Epub 2017 Jun 28.

PMID:
28659354
4.

CDR3 motif generation and selection in the BV19-utilizing subset of the human CD8 T cell repertoire.

Yassai MB, Demos W, Gorski J.

Mol Immunol. 2016 Apr;72:57-64. doi: 10.1016/j.molimm.2016.02.014. Epub 2016 Mar 7.

5.

CDR3 clonotype and amino acid motif diversity of BV19 expressing circulating human CD8 T cells.

Yassai MB, Demos W, Janczak T, Naumova EN, Gorski J.

Hum Immunol. 2016 Jan;77(1):137-45. doi: 10.1016/j.humimm.2015.11.007. Epub 2015 Nov 24.

6.

The functional CD8 T cell memory recall repertoire responding to the influenza A M1(58-66) epitope is polyclonal and shows a complex clonotype distribution.

Zhou V, Yassai MB, Regunathan J, Box J, Bosenko D, Vashishath Y, Demos W, Lee F, Gorski J.

Hum Immunol. 2013 Jul;74(7):809-17. doi: 10.1016/j.humimm.2012.12.016. Epub 2013 Jan 4.

7.

Naive T cell repertoire skewing in HLA-A2 individuals by a specialized rearrangement mechanism results in public memory clonotypes.

Yassai M, Bosenko D, Unruh M, Zacharias G, Reed E, Demos W, Ferrante A, Gorski J.

J Immunol. 2011 Mar 1;186(5):2970-7. doi: 10.4049/jimmunol.1002764. Epub 2011 Jan 31.

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