Подписаться
joshua milner
joshua milner
Неизвестная организация
Подтвержден адрес электронной почты в домене cumc.columbia.edu
Название
Процитировано
Процитировано
Год
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ...
Science 370 (6515), eabd4570, 2020
21442020
Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
JD Milner, JM Brenchley, A Laurence, AF Freeman, BJ Hill, KM Elias, ...
Nature 452 (7188), 773-776, 2008
13312008
Early-onset stroke and vasculopathy associated with mutations in ADA2
Q Zhou, D Yang, AK Ombrello, AV Zavialov, C Toro, AV Zavialov, ...
New England Journal of Medicine 370 (10), 911-920, 2014
7952014
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2019
6782019
Multisystem inflammatory syndrome related to COVID-19 in previously healthy children and adolescents in New York City
EW Cheung, P Zachariah, M Gorelik, A Boneparth, SG Kernie, JS Orange, ...
Jama 324 (3), 294-296, 2020
6472020
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
JD Milner, TP Vogel, L Forbes, CA Ma, A Stray-Pedersen, JE Niemela, ...
Blood, The Journal of the American Society of Hematology 125 (4), 591-599, 2015
5612015
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease
Q Zhou, H Wang, DM Schwartz, M Stoffels, YH Park, Y Zhang, D Yang, ...
Nature genetics 48 (1), 67-73, 2016
5502016
Distinct antibody responses to SARS-CoV-2 in children and adults across the COVID-19 clinical spectrum
SP Weisberg, TJ Connors, Y Zhu, MR Baldwin, WH Lin, S Wontakal, ...
Nature immunology 22 (1), 25-31, 2021
4972021
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
J Toubiana, S Okada, J Hiller, M Oleastro, M Lagos Gomez, ...
Blood, The Journal of the American Society of Hematology 127 (25), 3154-3164, 2016
4922016
Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions
MJ Ombrello, EF Remmers, G Sun, AF Freeman, S Datta, P Torabi-Parizi, ...
New England Journal of Medicine 366 (4), 330-338, 2012
4412012
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
Q Zhou, GS Lee, J Brady, S Datta, M Katan, A Sheikh, MS Martins, ...
The American Journal of Human Genetics 91 (4), 713-720, 2012
3812012
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome
G Uzel, EP Sampaio, MG Lawrence, AP Hsu, M Hackett, MJ Dorsey, ...
Journal of allergy and clinical immunology 131 (6), 1611-1623. e3, 2013
3292013
Atopic dermatitis in children: clinical features, pathophysiology, and treatment
JJ Lyons, JD Milner, KD Stone
Immunology and Allergy Clinics 35 (1), 161-183, 2015
3232015
Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number
JJ Lyons, X Yu, JD Hughes, QT Le, A Jamil, Y Bai, N Ho, M Zhao, Y Liu, ...
Nature genetics 48 (12), 1564-1569, 2016
3152016
A critical role for STAT3 transcription factor signaling in the development and maintenance of human T cell memory
AM Siegel, J Heimall, AF Freeman, AP Hsu, E Brittain, JM Brenchley, ...
Immunity 35 (5), 806-818, 2011
3122011
Development of a definition of postacute sequelae of SARS-CoV-2 infection
T Thaweethai, SE Jolley, EW Karlson, EB Levitan, B Levy, GA McComsey, ...
Jama 329 (22), 1934-1946, 2023
2632023
A global effort to define the human genetics of protective immunity to SARS-CoV-2 infection
JL Casanova, HC Su, L Abel, A Aiuti, S Almuhsen, AA Arias, P Bastard, ...
Cell 181 (6), 1194-1199, 2020
2532020
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis
EP Sampaio, AP Hsu, J Pechacek, HI Bax, DL Dias, ML Paulson, ...
Journal of allergy and clinical immunology 131 (6), 1624-1634. e17, 2013
2482013
Loss of mucosal CD103+ DCs and IL-17+ and IL-22+ lymphocytes is associated with mucosal damage in SIV infection
NR Klatt, JD Estes, X Sun, AM Ortiz, JS Barber, LD Harris, B Cervasi, ...
Mucosal immunology 5 (6), 646-657, 2012
2402012
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
Y Zhang, X Yu, M Ichikawa, JJ Lyons, S Datta, IT Lamborn, H Jing, ES Kim, ...
Journal of Allergy and Clinical Immunology 133 (5), 1400-1409. e5, 2014
2382014
В данный момент система не может выполнить эту операцию. Повторите попытку позднее.
Статьи 1–20