Cutting edge: increased Il-17–secreting T cells in children with new-onset type 1 diabetes AK Marwaha, SQ Crome, C Panagiotopoulos, KB Berg, H Qin, Q Ouyang, ... The Journal of Immunology 185 (7), 3814-3818, 2010 | 286 | 2010 |
TH17 cells in autoimmunity and immunodeficiency: protective or pathogenic? AK Marwaha, NJ Leung, AN McMurchy, MK Levings Frontiers in immunology 3, 129, 2012 | 178 | 2012 |
Combined immunodeficiency associated with homozygous MALT1 mutations ML McKinnon, J Rozmus, SY Fung, AF Hirschfeld, KL Del Bel, L Thomas, ... Journal of allergy and clinical immunology 133 (5), 1458-1462. e7, 2014 | 128 | 2014 |
Profiling of circulating microRNAs in children with recent onset of type 1 diabetes S Erener, A Marwaha, R Tan, C Panagiotopoulos, TJ Kieffer JCI insight 2 (4), 2017 | 117 | 2017 |
Targeting the IL-17/IFN-γ axis as a potential new clinical therapy for type 1 diabetes AK Marwaha, S Tan, JP Dutz Clinical immunology 154 (1), 84-89, 2014 | 52 | 2014 |
Treg gene signatures predict and measure type 1 diabetes trajectory AM Pesenacker, V Chen, J Gillies, C Speake, AK Marwaha, A Sun, ... JCI insight 4 (6), 2019 | 36 | 2019 |
Pre-diagnostic genotyping identifies T1D subjects with impaired Treg IL-2 signaling and an elevated proportion of FOXP3+ IL-17+ cells AK Marwaha, C Panagiotopoulos, CM Biggs, S Staiger, KL Del Bel, ... Genes & Immunity 18 (1), 15-21, 2017 | 26 | 2017 |
The point‐of‐care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning A Marwaha, D Chitayat, MS Meyn, R Mendoza‐Londono, L Chad American Journal of Medical Genetics Part A 185 (4), 1151-1158, 2021 | 23 | 2021 |
Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome A Marwaha, J Ibrahim, T Rice, N Hamwi, CA Rupar, D Cresswell, ... JIMD reports 57 (1), 9-14, 2021 | 14 | 2021 |
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation N Raghuram, A Marwaha, MLC Greer, E Gauda, D Chitayat American Journal of Medical Genetics Part A 182 (6), 1496-1499, 2020 | 14 | 2020 |
A phase 1b open-label dose-finding study of ustekinumab in young adults with type 1 diabetes AK Marwaha, S Chow, AM Pesenacker, L Cook, A Sun, SA Long, ... Immunotherapy advances 2 (1), ltab022, 2022 | 12 | 2022 |
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis C Gehin, MA Lone, W Lee, L Capolupo, S Ho, AM Adeyemi, EH Gerkes, ... The Journal of clinical investigation 133 (10), 2023 | 11 | 2023 |
A chromosomal duplication encompassing interleukin-33 causes a novel hyper IgE phenotype characterized by eosinophilic esophagitis and generalized autoimmunity AK Marwaha, R Laxer, M Liang, AM Muise, T Eiwegger, E Pope, ... Gastroenterology 163 (2), 510-513. e3, 2022 | 10 | 2022 |
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome RY Oh, AR Deshwar, A Marwaha, N Sabha, M Tropak, H Hou, KE Yuki, ... Genetics in Medicine 24 (11), 2399-2407, 2022 | 8 | 2022 |
CCL3 and CCL4 secretion by T regulatory cells attracts CD4+ and CD8+ T cells (P1077) A Wang, S Patterson, A Marwaha, R Tan, M Levings The Journal of Immunology 190 (1_Supplement), 121.10-121.10, 2013 | 7 | 2013 |
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder A Marwaha, G Costain, C Cytrynbaum, R Mendoza‐Londono, L Chad, ... American Journal of Medical Genetics Part A 188 (5), 1368-1375, 2022 | 6 | 2022 |
Phase II multicentre, double-blind, randomised trial of ustekinumab in adolescents with new-onset type 1 diabetes (USTEK1D): trial protocol JW Gregory, K Carter, WY Cheung, G Holland, J Bowen-Morris, S Luzio, ... BMJ open 11 (10), e049595, 2021 | 6 | 2021 |
Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency P Kashani, A Marwaha, S Feanny, VHD Kim, AR Atkinson, M Leon-Ponte, ... Immunologic Research 69, 53-58, 2021 | 6 | 2021 |
Genotype–phenotype data from a case series of patients with mosaic neurofibromatosis type 1. A Marwaha, J Malach, A Shugar, S Hedges, M Weinstein, PC Parkin, ... British Journal of Dermatology 179 (5), 2018 | 6 | 2018 |
Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy BR Earl, M Szybowska, A Marwaha, V Belostotsky, I Lara‐Corrales, ... The Journal of Dermatology 47 (8), 898-902, 2020 | 3 | 2020 |