Joshua D. Milner

Overview

Best Publications

• Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

  Qian Zhang;Paul Bastard;Paul Bastard;Zhiyong Liu;Jérémie Le Pen

  2199
  Citations

• Impaired T H 17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

  Joshua D. Milner;Jason M. Brenchley;Jason M. Brenchley;Arian Laurence;Alexandra F. Freeman

  1653
  Citations

• Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

  Qing Zhou;Dan Yang;Amanda K Ombrello;Andrey V Zavialov

  920
  Citations

• Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

  Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen

  715
  Citations

• Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

  Qing Zhou;Hongying Wang;Daniella M. Schwartz;Monique Stoffels

  622
  Citations

• Multisystem Inflammatory Syndrome Related to COVID-19 in Previously Healthy Children and Adolescents in New York City.

  Eva W. Cheung;Philip Zachariah;Mark Gorelik;Alexis Boneparth

  611
  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

• Autoantibodies neutralizing type I IFNs are present in ~ 4% of uninfected individuals over 70 years old and account for ~ 20% of COVID-19 deaths.

  Paul Bastard;Adrian Gervais;Adrian Gervais;Tom Le Voyer;Tom Le Voyer;Jérémie Rosain;Jérémie Rosain

  592
  Citations

• Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

  Julie Toubiana;Satoshi Okada;Satoshi Okada;Julia Hiller;Matias Oleastro

  553
  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

• Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

  Michael J. Ombrello;Elaine F. Remmers;Guangping Sun;Alexandra F. Freeman

  448
  Citations

• A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

  Qing Zhou;Geun-Shik Lee;Geun-Shik Lee;Jillian Brady;Shrimati Datta

  408
  Citations

• Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.

  Jonathan J Lyons;Xiaomin Yu;Jason D Hughes;Quang T Le

  374
  Citations

• A Critical Role for STAT3 Transcription Factor Signaling in the Development and Maintenance of Human T Cell Memory

  Andrea M. Siegel;Jennifer Heimall;Alexandra F. Freeman;Amy P. Hsu

  324
  Citations

• Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

  Gulbu Uzel;Elizabeth P. Sampaio;Monica G. Lawrence;Amy P. Hsu

  323
  Citations

• Atopic dermatitis in children: clinical features, pathophysiology, and treatment.

  Jonathan J. Lyons;Joshua D. Milner;Kelly D. Stone

  300
  Citations

• Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

  Daniel Kotlarz;Natalia Ziętara;Gulbu Uzel;Thomas Weidemann

  274
  Citations

• Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease

  Qing Zhou;Xiaomin Yu;Erkan Demirkaya;Natalie Deuitch

  265
  Citations

• Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

  Yu Zhang;Xiaomin Yu;Mie Ichikawa;Jonathan J. Lyons

  263
  Citations

• Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.

  Lisa R. Forbes;Tiphanie P. Vogel;Megan A. Cooper;Johana Castro-Wagner

  254
  Citations

• Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis

  Elizabeth P. Sampaio;Elizabeth P. Sampaio;Amy P. Hsu;Joseph Pechacek;Hannelore I. Bax;Hannelore I. Bax

  253
  Citations

• Loss of mucosal CD103+ DCs and IL-17+ and IL-22+ lymphocytes is associated with mucosal damage in SIV infection.

  Nichole R. Klatt;Jacob D. Estes;Xiaoyong Sun;Alexandra M. Ortiz;Alexandra M. Ortiz

  235
  Citations