Emily M. Mace

Overview

Best Publications

• GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics and immunity

  Michael A. Spinner;Lauren A. Sanchez;Amy P. Hsu;Pamela A. Shaw

  755
  Citations

• Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

  Joshua D. Milner;Tiphanie P. Vogel;Lisa Forbes;Chi A. Ma

  599
  Citations

• Distinct antibody responses to SARS-CoV-2 in children and adults across the COVID-19 clinical spectrum.

  Stuart P. Weisberg;Thomas J. Connors;Yun Zhu;Matthew R. Baldwin

  528
  Citations

• COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

  Levi B. Watkin;Birthe Jessen;Wojciech Wiszniewski;Timothy J. Vece

  394
  Citations

• Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

  Asbjørg Stray-Pedersen;Hanne Sørmo Sorte;Pubudu Samarakoon;Tomasz Gambin;Tomasz Gambin

  288
  Citations

• Natural Killer Cell Lytic Granule Secretion Occurs through a Pervasive Actin Network at the Immune Synapse

  Gregory D. Rak;Emily M. Mace;Pinaki P. Banerjee;Tatyana Svitkina

  275
  Citations

• Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56bright subset

  Emily M. Mace;Emily M. Mace;Amy P. Hsu;Linda Monaco-Shawver;George Makedonas;George Makedonas

  257
  Citations

• Cell biological steps and checkpoints in accessing NK cell cytotoxicity.

  Emily M Mace;Prachi Dongre;Hsiang-Ting Hsu;Papiya Sinha

  240
  Citations

• Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis

  Ivan K. Chinn;Ivan K. Chinn;Olive S. Eckstein;Olive S. Eckstein;Erin C. Peckham-Gregory;Erin C. Peckham-Gregory;Baruch R. Goldberg;Baruch R. Goldberg

  198
  Citations

• A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

  Michael T Lam;Michael T Lam;Simona Coppola;Oliver H F Krumbach;Giusi Prencipe

  196
  Citations

• Diversity of peripheral blood human NK cells identified by single-cell RNA sequencing

  Samantha L. Smith;Philippa R. Kennedy;Kevin B. Stacey;Jonathan D. Worboys

  167
  Citations

• Emerging insights into human health and NK cell biology from the study of NK cell deficiencies.

  Emily M. Mace;Jordan S. Orange

  162
  Citations

• Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

  Melissa C. Mizesko;Melissa C. Mizesko;Pinaki P. Banerjee;Pinaki P. Banerjee;Linda Monaco-Shawver;Emily M. Mace;Emily M. Mace

  151
  Citations

• Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

  Katharina L. Willmann;Stefanie Klaver;Figen Doğu;Elisangela Santos-Valente

  148
  Citations

• Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.

  M. Cecilia Poli;M. Cecilia Poli;M. Cecilia Poli;Frédéric Ebstein;Sarah K. Nicholas;Sarah K. Nicholas;Marietta M. de Guzman;Marietta M. de Guzman

  144
  Citations

• A Cell-Autonomous Mammalian 12 hr Clock Coordinates Metabolic and Stress Rhythms.

  Bokai Zhu;Qiang Zhang;Yinghong Pan;Emily M. Mace

  139
  Citations

• RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics.

  Elisabeth Salzer;Deniz Cagdas;Miroslav Hons;Emily M Mace

  129
  Citations

• Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

  Douglas B. Kuhns;Danielle L. Fink;Uimook Choi;Colin Sweeney

  124
  Citations

• Lytic immune synapse function requires filamentous actin deconstruction by Coronin 1A

  Emily M. Mace;Jordan S. Orange

  123
  Citations

• Practical NK cell phenotyping and variability in healthy adults.

  Laura S. Angelo;Laura S. Angelo;Pinaki P. Banerjee;Pinaki P. Banerjee;Linda Monaco-Shawver;Joshua B. Rosen

  120
  Citations