Dr. Mathios is developing and validating a liquid biopsy approach that detects early genetic and epigenetic features of cancer and could reduce unnecessary high-risk invasive procedures.
PUBLISHED RESEARCH
Mathios D, Niknafs N, Annapragada AV, Bobeff EJ, Chiao EJ, Boyapati K, Boyapati K, Short S, Bartolomucci AL, Cristiano S, Koul S, Vulpescu NA, Ferreira L, Medina JE, Bruhm DC, Adleff V, Podstawka M, Stanisławska P, Park CK, Huang J, Gallia GL, Brem H, Mukherjee D, Caplan JM, Weingart J, Jackson CM, Lim M, Phallen J, Scharpf RB, Velculescu VE. Detection of brain cancer using genome-wide cell-free DNA fragmentomes. Cancer Discov. 2025.
Medina JE, Annapragada AV, Lof P, Short S, Bartolomucci AL, Mathios D, Koul S, Niknafs N, Noe M, Foda ZH, Bruhm DC, Hruban C, Vulpescu NA, Jung E, Dua R, Canzoniero JV, Cristiano S, Adleff V, Symecko H, van den Broek D, Sokoll LJ, Baylin SB, Press MF, Slamon DJ, Konecny GE, Therkildsen C, Carvalho B, Meijer GA, Andersen CL, Domchek SM, Drapkin R, Scharpf RB, Phallen J, Lok CAR, Velculescu VE. Early detection of ovarian cancer using cell-free DNA fragmentomes and protein biomarkers. Cancer Discov. 2024.
Noë M, Mathios D, Annapragada AV, Koul S, Foda ZH, Medina JE, Cristiano S, Cherry C, Bruhm DC, Niknafs N, Adleff V, Ferreira L, Easwaran H, Baylin S, Phallen J, Scharpf RB, Velculescu VE. DNA methylation and gene expression as determinants of genome-wide cell-free DNA fragmentation. Nat Commun. 2024.
Annapragada AV, Niknafs N, White JR, Bruhm DC, Cherry C, Medina JE, Adleff V, Hruban C, Mathios D, Foda ZH, Phallen J, Scharpf RB, Velculescu VE. Genome-wide repeat landscapes in cancer and cell-free DNA. Sci Transl Med. 2024.
Bruhm DC, Mathios D, Foda ZH, Annapragada AV, Medina JE, Adleff V, Chiao EJ, Ferreira L, Cristiano S, White JR, Mazzilli SA, Billatos E, Spira A, Zaidi AH, Mueller J, Kim AK, Anagnostou V, Phallen J, Scharpf RB, Velculescu VE. Single-molecule genome-wide mutation profiles of cell-free DNA for non-invasive detection of cancer. Nat Genet. 2023.
Foda ZH, Annapragada AV, Boyapati K, Bruhm DC, Vulpescu NA, Medina JE, Mathios D, Cristiano S, Niknafs N, Luu HT, Goggins MG, Anders RA, Sun J, Mehta SH, Thomas DL, Kirk GD, Adleff V, Phallen J, Scharpf RB, Kim AK, Velculescu VE. Detecting liver cancer using cell-free DNA fragmentomes. Cancer Discov. 2022.
Mathios D, Johansen JS, Cristiano S, Medina JE, Phallen J, Larsen KR, Bruhm DC, Niknafs N, Ferreira L, Adleff V, Chiao JY, Leal A, Noe M, White JR, Arun AS, Hruban C, Annapragada AV, Jensen SØ, Ørntoft MW, Madsen AH, Carvalho B, de Wit M, Carey J, Dracopoli NC, Maddala T, Fang KC, Hartman AR, Forde PM , Anagnostou V, Brahmer JR, Fijneman RJA, Nielsen HJ, Meijer GA, Andersen CL, Mellemgaard A, Bojesen SE, Scharpf RB, Velculescu VE. Detection and Characterization of Lung Cancer Using Cell-Free DNA Fragmentomes. Nat Commun. 2021.