| 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 | 558 | 2015 |
| 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 | 547 | 2016 |
| Atopic dermatitis in children: clinical features, pathophysiology, and treatment JJ Lyons, JD Milner, KD Stone Immunology and Allergy Clinics 35 (1), 161-183, 2015 | 321 | 2015 |
| 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 | 312 | 2016 |
| 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 | 237 | 2014 |
| Germline hypomorphic CARD11 mutations in severe atopic disease. CA Ma, JR Stinson, Y Zhang, JK Abbott, MA Weinreich, PJ Hauk, ... Nature genetics 49 (8), 1192, 2017 | 196 | 2017 |
| Heritable risk for severe anaphylaxis associated with increased α-tryptase–encoding germline copy number at TPSAB1 JJ Lyons, J Chovanec, MP O’Connell, Y Liu, J Šelb, R Zanotti, Y Bai, ... Journal of Allergy and Clinical Immunology 147 (2), 622-632, 2021 | 165 | 2021 |
| Updated diagnostic criteria and classification of mast cell disorders: a consensus proposal P Valent, C Akin, K Hartmann, I Alvarez-Twose, K Brockow, O Hermine, ... Hemasphere 5 (11), e646, 2021 | 163 | 2021 |
| Hereditary alpha tryptasemia: genotyping and associated clinical features JJ Lyons Immunology and Allergy Clinics 38 (3), 483-495, 2018 | 144 | 2018 |
| Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation C Lam, C Ferreira, D Krasnewich, C Toro, L Latham, WM Zein, T Lehky, ... Genetics in Medicine 19 (2), 160-168, 2017 | 140 | 2017 |
| Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities JJ Lyons, G Sun, KD Stone, C Nelson, L Wisch, M O'Brien, N Jones, ... Journal of allergy and clinical immunology 133 (5), 1471-1474, 2014 | 126 | 2014 |
| Why the 20%+ 2 tryptase formula is a diagnostic gold standard for severe systemic mast cell activation and mast cell activation syndrome P Valent, P Bonadonna, K Hartmann, S Broesby-Olsen, K Brockow, ... International archives of allergy and immunology 180 (1), 44-51, 2019 | 106 | 2019 |
| Glycans instructing immunity: the emerging role of altered glycosylation in clinical immunology JJ Lyons, JD Milner, SD Rosenzweig Frontiers in pediatrics 3, 147638, 2015 | 103 | 2015 |
| Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia QT Le, JJ Lyons, AN Naranjo, A Olivera, RA Lazarus, DD Metcalfe, ... Journal of Experimental Medicine 216 (10), 2348-2361, 2019 | 98 | 2019 |
| Primary atopic disorders JJ Lyons, JD Milner Journal of Experimental Medicine 215 (4), 1009-1022, 2018 | 92 | 2018 |
| ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans JJ Lyons, Y Liu, CA Ma, X Yu, MP O’Connell, MG Lawrence, Y Zhang, ... Journal of Experimental Medicine 214 (3), 669-680, 2017 | 91 | 2017 |
| PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients Y Zhang, CA Ma, MG Lawrence, TJ Break, MP O’Connell, JJ Lyons, ... Journal of Experimental Medicine 214 (9), 2523-2533, 2017 | 74 | 2017 |
| First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease V Sabato, J Chovanec, M Faber, JD Milner, D Ebo, JJ Lyons Journal of Clinical Immunology 38, 457-459, 2018 | 69 | 2018 |
| Distinct cutaneous manifestations and cold-induced leukocyte activation associated with PLCG2 mutations OM Aderibigbe, DL Priel, CCR Lee, MJ Ombrello, VH Prajapati, MG Liang, ... JAMA dermatology 151 (6), 627-634, 2015 | 65 | 2015 |
| Diminution of signal transducer and activator of transcription 3 signaling inhibits vascular permeability and anaphylaxis V Hox, MP O'Connell, JJ Lyons, P Sackstein, T Dimaggio, N Jones, ... Journal of Allergy and Clinical Immunology 138 (1), 187-199, 2016 | 61 | 2016 |
Joshua J McElweeGenetics Lead, Merck and Co.Geverifieerd e-mailadres voor merck.com
