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 | 830 | 2014 |
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 | 571 | 2016 |
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation K Manthiram, Q Zhou, I Aksentijevich, DL Kastner Nature immunology 18 (8), 832-842, 2017 | 391 | 2017 |
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 | 387 | 2012 |
Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production A Brehm, Y Liu, A Sheikh, B Marrero, E Omoyinmi, Q Zhou, ... The Journal of clinical investigation 125 (11), 4196-4211, 2015 | 302 | 2015 |
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study R Caorsi, F Penco, A Grossi, A Insalaco, A Omenetti, M Alessio, G Conti, ... Annals of the rheumatic diseases 76 (10), 1648-1656, 2017 | 260 | 2017 |
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease N Lalaoui, SE Boyden, H Oda, GM Wood, DL Stone, D Chau, L Liu, ... Nature 577 (7788), 103-108, 2020 | 244 | 2020 |
Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease Q Zhou, X Yu Proceedings of the National Academy of Sciences, 2016 | 237 | 2016 |
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1 P Tao, J Sun, Z Wu, S Wang, J Wang, W Li, H Pan, R Bai, J Zhang, ... Nature 577 (7788), 109-114, 2020 | 206 | 2020 |
NF-κB pathway in autoinflammatory diseases: dysregulation of protein modifications by ubiquitin defines a new category of autoinflammatory diseases I Aksentijevich, Q Zhou Frontiers in immunology 8, 399, 2017 | 204 | 2017 |
Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease Y Kirino, Q Zhou, Y Ishigatsubo, N Mizuki, I Tugal-Tutkun, E Seyahi, ... Proceedings of the National Academy of Sciences 110 (20), 8134-8139, 2013 | 179 | 2013 |
Treatment strategies for deficiency of adenosine deaminase 2 AK Ombrello, J Qin, PM Hoffmann, P Kumar, D Stone, A Jones, T Romeo, ... The New England journal of medicine 380 (16), 1582, 2019 | 174 | 2019 |
The silkworm (Bombyx mori) microRNAs and their expressions in multiple developmental stages X Yu, Q Zhou, SC Li, Q Luo, Y Cai, W Lin, H Chen, Y Yang, S Hu, J Yu PloS one 3 (8), e2997, 2008 | 157 | 2008 |
Mutant ADA2 in vasculopathies D Kastner, Q Zhou, I Aksentijevich New England Journal of Medicine 371 (5), 480-1, 2014 | 145* | 2014 |
Mutant ADA2 in vasculopathies MD Joris van Montfrans, A Zavialov, Q Zhou N Engl J Med 2014 (371), 478, 2014 | 145* | 2014 |
Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2) PY Lee, ES Kellner, Y Huang, E Furutani, Z Huang, W Bainter, ... Journal of allergy and clinical immunology 145 (6), 1664-1672. e10, 2020 | 131 | 2020 |
New horizons in the genetic etiology of systemic lupus erythematosus and lupus-like disease: monogenic lupus and beyond E Demirkaya, S Sahin, M Romano, Q Zhou, I Aksentijevich Journal of clinical medicine 9 (3), 712, 2020 | 127 | 2020 |
Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells Y Kaljas, C Liu, M Skaldin, C Wu, Q Zhou, Y Lu, I Aksentijevich, ... Cellular and Molecular Life Sciences 74, 555-570, 2017 | 125 | 2017 |
Cryopyrin‐Associated Periodic Syndrome Caused by a Myeloid‐Restricted Somatic NLRP3 Mutation Q Zhou, I Aksentijevich, GM Wood, AD Walts, P Hoffmann, EF Remmers, ... Arthritis & Rheumatology 67 (9), 2482-2486, 2015 | 102 | 2015 |
Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK HY Wang, CA Ma, Y Zhao, X Fan, Q Zhou, P Edmonds, G Uzel, ... Proceedings of the National Academy of Sciences 110 (13), 5127-5132, 2013 | 87 | 2013 |