Genomize in Scientific Articles

You are here:
  1. Home
  2. Citations
Orange document icon with pencil
IKZF1 Deletions at Diagnose and Relapse of Childhood B-ALL
American Society of Hematology - Blood, 2017

Erbilgin et al. (2026) used Genomize-SEQ to confirm IKZF1 deletions were nearly twice as common in relapsed pediatric B-ALL patients as at diagnosis, suggesting these deletions accumulate during disease progression rather than predicting relapse from the outset.
Orange document icon with pencil
A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey
Immunogenetics, 2017

Using targeted NGS and Genomize-SEQ variant analysis, Firtina et al. (2017) found an identical novel CD3E frameshift deletion in two unrelated consanguineous Turkish families with T-B+ NK+ SCID. This finding suggests a possible founder effect and expands the known mutational spectrum of CD3E-deficiency.

Become a part of Genomize community!