| Early-onset autoimmunity associated with SOCS1 haploinsufficiency J Hadjadj, CN Castro, M Tusseau, MC Stolzenberg, F Mazerolles, ... Nature communications 11 (1), 5341, 2020 | 118 | 2020 |
| Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts A Belot, GI Rice, SO Omarjee, Q Rouchon, EMD Smith, M Moreews, ... The Lancet Rheumatology 2 (2), e99-e109, 2020 | 57 | 2020 |
| DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity B Fournier, M Tusseau, M Villard, C Malcus, E Chopin, E Martin, ... Journal of Allergy and Clinical Immunology 147 (2), 740-743. e9, 2021 | 28 | 2021 |
| DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling M Tusseau, E Lovšin, C Samaille, R Pescarmona, AL Mathieu, ... Journal of clinical immunology 42 (6), 1310-1320, 2022 | 20 | 2022 |
| DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity C Boussard, L Delage, T Gajardo, A Kauskot, M Batignes, N Goudin, ... Blood, The Journal of the American Society of Hematology 141 (22), 2713-2726, 2023 | 13 | 2023 |
| Rescue of pap-mas in systemic JIA using janus kinase inhibitors, case report and systematic review F Zekre, A Duncan, A Laurent, M Tusseau, R Pescarmona, ... Journal of Clinical Medicine 12 (7), 2702, 2023 | 10 | 2023 |
| Clinical significance of a single cerebrospinal fluid immunoglobulin band: A retrospective study M Tusseau, E Cheli, R Marignier, F Poitevin, C Malcus, M Gossez, ... Multiple Sclerosis Journal 27 (9), 1451-1454, 2021 | 7 | 2021 |
| Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus M Jeanpierre, J Cognard, M Tusseau, Q Riller, LC Bui, J Berthelet, ... Journal of Experimental Medicine 221 (9), 2024 | 6 | 2024 |
| Mendelian causes of autoimmunity: the Lupus phenotype M Tusseau, S Khaldi-Plassart, J Cognard, S Viel, L Khoryati, S Benezech, ... Journal of Clinical Immunology 44 (4), 99, 2024 | 5 | 2024 |
| LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency J Rosain, C Deswarte, G Hancioglu, C Oleaga-Quintas, S Kutlug, I Kartal, ... Journal of clinical immunology 39, 739-742, 2019 | 4 | 2019 |
| Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome T Snelling, LO Garnotel, I Jeru, M Tusseau, L Cuisset, A Perlat, G Minard, ... Open Biology 14 (12), 240260, 2024 | 2 | 2024 |
| Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families M Tusseau, M Eyries, N Chatron, F Coulet, A Guichet, E Colin, B Demeer, ... European Journal of Medical Genetics 68, 104919, 2024 | 2 | 2024 |
| A new drug for rare diseases: pozelimab for CHAPLE disease A Belot, S Benezech, M Tusseau The Lancet 403 (10427), 592-593, 2024 | 2 | 2024 |
| “P2RY8-son” break of tolerance promotes SLE M Tusseau, A Belot The Journal of Experimental Medicine 219 (1), e20211972, 2021 | 2 | 2021 |
| Germline mutations in a G protein identify signaling cross-talk in T cells H Ham, H Jing, IT Lamborn, MM Kober, A Koval, YA Berchiche, ... Science 385 (6715), eadd8947, 2024 | 1 | 2024 |
| Deciphering the clinical spectrum of gastric disease in patients with Juvenile Polyposis Syndrome M Muller, E Baldysiak, N Benech, M Pioche, V Hervieu, L Calavas, ... Gastrointestinal Endoscopy, 2024 | 1 | 2024 |
| Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1 D DeMille, J McDonald, C Bernabeu, H Racher, C Olivieri, C Cantarini, ... Human Mutation 2024 (1), 3043736, 2024 | 1 | 2024 |
| Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children M Tusseau, A Belot Biologie Aujourd'hui 218 (1-2), 9-18, 2024 | | 2024 |
| Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update J Adelon, H Abolhassani, S Esenboga, F Fouyssac, D Cagdas, I Tezcan, ... Journal of Allergy and Clinical Immunology, 2024 | | 2024 |
| Deciphering 5’UTR variants in ENG revealed for the first time a uCUG-creating variant in patients with Hereditary Hemorrhagic Telangiectasia and associated with Endoglin deficiency O Soukarieh, C Deiber, C Meguerditchian, C Proust, M Tusseau, ... European Human Genetics Conference, 2024 | | 2024 |
