| Germline CBM-opathies: from immunodeficiency to atopy HY Lu, CM Biggs, G Blanchard-Rohner, SY Fung, M Sharma, SE Turvey Journal of Allergy and Clinical Immunology 143 (5), 1661-1673, 2019 | 57 | 2019 |
| Granzyme B deficiency protects against angiotensin II–induced cardiac fibrosis Y Shen, F Cheng, M Sharma, Y Merkulova, SA Raithatha, LG Parkinson, ... The American journal of pathology 186 (1), 87-100, 2016 | 55 | 2016 |
| Extracellular granzyme K mediates endothelial activation through the cleavage of protease‐activated receptor‐1 M Sharma, Y Merkulova, S Raithatha, LG Parkinson, Y Shen, D Cooper, ... The FEBS journal 283 (9), 1734-1747, 2016 | 54 | 2016 |
| Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease M Sharma, D Leung, M Momenilandi, LCW Jones, L Pacillo, AE James, ... Journal of Experimental Medicine 220 (5), e20221755, 2023 | 45 | 2023 |
| A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases T Novice, A Kariminia, KL Del Bel, H Lu, M Sharma, CJ Lim, J Read, ... Journal of Clinical Immunology 40, 267-276, 2020 | 33 | 2020 |
| Inborn errors of immunity manifesting as atopic disorders M Vaseghi-Shanjani, KL Smith, RJ Sara, BP Modi, A Branch, M Sharma, ... Journal of Allergy and Clinical Immunology 148 (5), 1130-1139, 2021 | 29 | 2021 |
| Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency HY Lu, M Sharma, AA Sharma, A Lacson, A Szpurko, J Luider, ... Journal of Allergy and Clinical Immunology 148 (6), 1559-1574. e13, 2021 | 23 | 2021 |
| Granzyme B inhibits keratinocyte migration by disrupting epidermal growth factor receptor (EGFR)-mediated signaling Y Merkulova, Y Shen, LG Parkinson, SA Raithatha, H Zhao, K Westendorf, ... Biological chemistry 397 (9), 883-895, 2016 | 19 | 2016 |
| Rare diseases of epigenetic origin: Challenges and opportunities MP Fu, SM Merrill, M Sharma, WT Gibson, SE Turvey, MS Kobor Frontiers in genetics 14, 1113086, 2023 | 10 | 2023 |
| A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency IRF4 International Consortium, O Fornes, A Jia, HS Kuehn, Q Min, ... Science immunology 8 (79), eade7953, 2023 | 10 | 2023 |
| The importance of functional validation after next‐generation sequencing: evaluation of a novel CARD11 variant. HY Lu, M Sharma, CM Biggs, YH Huang, KE Shopsowitz, P Frosk, ... Pediatric Allergy & Immunology 29 (6), 2018 | 10 | 2018 |
| Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy M Sharma, MP Fu, HY Lu, AA Sharma, BP Modi, C Michalski, S Lin, ... Blood, The Journal of the American Society of Hematology 140 (17), 1858-1874, 2022 | 9 | 2022 |
| MALT1-Dependent cleavage of HOIL1 modulates canonical NF-κB signaling and inflammatory responsiveness SY Fung, HY Lu, M Sharma, AA Sharma, A Saferali, A Jia, L Abraham, ... Frontiers in Immunology 12, 749794, 2021 | 7 | 2021 |
| Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c. 1049delG, p. Gly350Glufs* 15) variant A Jia, E James, HY Lu, M Sharma, BP Modi, CM Biggs, KJ Hildebrand, ... Molecular Case Studies 6 (3), a005298, 2020 | 7 | 2020 |
| Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation CM Biggs, A Cordeiro-Santanach, SV Prykhozhij, AP Deveau, Y Lin, ... JCI insight 7 (24), 2022 | 6 | 2022 |
| RpoS and PmrA induced resistance to polymyxin B is independent of arnT expression in Pseudomonas aeruginosa D Deng, M Phan, A Sharma, M Sharma J Exp Microbiol Immunol 17, 55-59, 2013 | 4 | 2013 |
| Transcription factor defects in inborn errors of immunity with atopy M Vaseghi-Shanjani, P Yousefi, M Sharma, S Samra, E Sifuentes, ... Frontiers in Allergy 4, 2023 | 3 | 2023 |
| Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and … A Mohajeri, M Vaseghi-Shanjani, JA Rosenfeld, GX Yang, H Lu, ... Journal of medical genetics 60 (11), 1092-1104, 2023 | 2 | 2023 |
| Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy BP Modi, KL Del Bel, S Lin, M Sharma, PA Richmond, ... Allergy, Asthma & Clinical Immunology 17, 1-6, 2021 | 2 | 2021 |
| Human germline gain-of-function in STAT6: from severe allergic disease to lymphoma and beyond STAT6 Gain-of-Function International Consortium Trends in Immunology, 2024 | 1 | 2024 |
