Author
Columbia University Irving Medical CenterORCID 0000-0002-5687-8352Unclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
Katelynn R. Kazane, Jeong Hyun Ji, Georgia R. Lill…·Timothy Edward O’Sullivan
This study shows that KMT2D promotes effector molecule release in NK cells by regulating H3K4me1 and RAB3D levels, affecting cytotoxicity and cytokine production.
Shira Esther Eisman, Francesca Grossberg, Batya S. Koenigsberg…·Emily Margaret Mace
This study identifies CXCR4 and CXCL12 as regulators of stromal-NK cell interactions that control NK cell adhesion, migration, and maturation in humans.
Nicole C. Guilz, Yong‐Oon Ahn, Seungmae Seo…·Emily Margaret Mace
The paper identifies a CDC45 variant causing immune disease with allelic bias, linking it to NK cell dysfunction and variable expressivity in a family.
Nicole C Guilz, Yong-Oon Ahn, Hijab Fatima…·Emily M Mace
This study shows that replication stress in activated human NK cells increases apoptosis and impairs function, linking helicase deficiency to NK cell deficiency.
Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega…·Tahsin Stefan Barakat
The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.