PUBLICATIONS
Zhang, T., et al. A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I. Mol Genet Metab. 2022 Aug;136(4):296-305
Collins, C., et al. Direct Measurement of ATP7B Peptides is Highly Effective in the Diagnosis of Wilson Disease Gastroenterology 2021 Feb 25; S0016-5085(21)00457-1
Fan Yi, Sheri A. Poskanzer, Candace T. Myers, Jenny Thies, Christopher Collins, Remwilyn Dayuha, Phi Duong, Roderick Houwen and Si Houn Hahn. p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease. JIMD Reports 2020;54:32-36, PIMD: 32685348
Christopher J. Collins, Fan Yi, Remwilyn Dayuha, Jeffrey Whiteaker, Hans D. Ochs, Alexandra Freeman, Helen C. Su, Amanda G. Paulovich, Gesmar R. S. Segundo, Troy Torgerson, and Si Houn Hahn. Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders from Dried Blood Spots. Font Immunol. 2020;11:464. PIMD: 32296420
Sheri A. Poskanzer, Jenny Thies, Christopher Collins, Candace T. Myers, Remwilyn Dayuha, Phi Duong, Fan Yi, Irene J. Chang, Hans D. Ochs, Troy R. Torgerson, Si Houn Hahn. The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis. Molecular Genetics &Genomic Medicine, 2020 Apr;8(4):e1172, PMID: 32067425
Collins CJ, Chang IJ, Jung S, Dayuha R, Whiteaker JR, Segundo GRS, Torgerson TR, Ochs HD, Paulovich AG, Hahn SH. Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots. Front Immunol. 2018 Dec 4;9:2756, PMID: 30564228
Jung S, Whiteaker JR, Zhao L, Yoo HW, Paulovich AG, Hahn SH. Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease. J Proteome Res. 2017 Feb 3;16(2):862-871
Sandra A. Kerfoot, Sunhee Jung, Karin Golob, Troy R. Torgerson and Si Houn Hahn. Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS. Proteomics Clin. Appl. 2012:6:394-402
