Peer-Reviewed Literature Demonstrates the Clinical Utility of the Immuno-SRM Platform

PUBLICATIONS

  • Monica Penon-Portmann et al. Cryptic Presentations of Neurological Wilson Disease and the Utility of ATP7B Peptide Testing. Neurology® Genetics, 2026 in press
  • Dorte L Lildballe et al. Wilson disease is a single gene disorder - comprehensive analysis of patients with prior negative genetic testing. JHEP Rep 2026 May;8(5):101815. PMID: 42000590
  • Alban Ziegler et al. Expanded newborn screening using genome sequencing for early actionable conditions. JAMA 2025: Jan 21;333(3):232-240. PMID: 39446378
  • Claire Klippel, Jiwoon Park et al. Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity. IJNS 2025. Jan 10;11(1):6. PMID: 39846592
  • Varsha Venkatarangan et al. ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine. J Clin Invest. 2023. https://doi.org/10.1172/JCI169551. PMID: 37561577
  • Marlene Panzer et al. Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease. Hepatology Communications, 2022:6(7):1611-1619. PMID: 35271763
  • 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. PMID: 35787971
  • 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. PMID: 33640437
  • 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 . PMID: 27935710
  • 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. PMID: 22927353