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Maud Tusseau

Early-onset autoimmunity associated with SOCS1 haploinsufficiency
2020 · Jérôme Hadjadj, Carla Noemi Castro, et al. · Nature Communications · 155
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Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
2020 · Alexandre Belot, Gillian I Rice, et al. · The Lancet Rheumatology · 100
PFMG2025–integrating genomic medicine into the national healthcare system in France
2025 · Caroline Abadie, Aldja Abderrahmane, et al. · The Lancet Regional Health - Europe · 57
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DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling
2022 · Maud Tusseau, Ema Lovšin, et al. · Journal of Clinical Immunology · 39
DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity
2020 · Benjamin Fournier, Maud Tusseau, et al. · Journal of Allergy and Clinical Immunology · 34
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus
2024 · Marie Jeanpierre, Jade Cognard, et al. · The Journal of Experimental Medicine · 33
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Germline mutations in a G protein identify signaling cross-talk in T cells
2024 · Hyoungjun Ham, Huie Jing, et al. · Science · 29
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity
2023 · Charlotte Boussard, Laure Delage, et al. · Blood · 25
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Mendelian Causes of Autoimmunity: the Lupus Phenotype
2024 · Maud Tusseau, Samira Khaldi-Plassart, et al. · Journal of Clinical Immunology · 22
Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome
2024 · Tom Snelling, Leo O. Garnotel, et al. · Open Biology · 15
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Rescue of Pap-Mas in Systemic JIA Using Janus Kinase Inhibitors, Case Report and Systematic Review
2023 · Franck Zekre, Anita Duncan, et al. · Journal of Clinical Medicine · 15
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Novel TLR7 gain-of-function variant and review of the associated disease spectrum
2025 · Maud Tusseau, Claire Desvignes, et al. · Journal of Human Immunity · 11
Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome
2025 · Clémence David, Nadia Nathan, et al. · Annals of the Rheumatic Diseases · 8
How (Ultra‐)Rare Gene Variants Improve Our Understanding of More Common Autoimmune and Inflammatory Diseases
2025 · Alexandre Belot, Maud Tusseau, et al. · ACR Open Rheumatology · 8
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Clinical significance of a single cerebrospinal fluid immunoglobulin band: A retrospective study
2020 · Maud Tusseau, Estelle Cheli, et al. · Multiple Sclerosis Journal · 8
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis
2025 · Sophie Wolfgramm, Sara Alehashemi, et al. · Annals of the Rheumatic Diseases · 7
Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update
2024 · Jihane Adelon, Hassan Abolhassani, et al. · Journal of Allergy and Clinical Immunology · 7
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Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1
2024 · Desiree DeMille, Jamie McDonald, et al. · Human Mutation · 7
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LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency
2019 · Jérémie Rosain, Caroline Deswarte, et al. · Journal of Clinical Immunology · 7
The STING HAQ haplotype and clinical non-penetrance in COPA syndrome
2026 · Clémence David, Tifenn Wauquier, et al. · The Journal of Experimental Medicine · 6
“P2RY8-son” break of tolerance promotes SLE
2021 · Maud Tusseau, Alexandre Belot · The Journal of Experimental Medicine · 6
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Mosaicism in Two Patients with COPA Syndrome
2025 · Maud Tusseau, Yves Hatchuel, et al. · Journal of Clinical Immunology · 5
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Deciphering the clinical spectrum of gastric disease in patients with juvenile polyposis syndrome
2024 · Marie Muller, Etienne Baldysiak, et al. · Gastrointestinal Endoscopy · 5
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Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families
2024 · M. Tusseau, M. Eyries, et al. · European Journal of Medical Genetics · 5
A new drug for rare diseases: pozelimab for CHAPLE disease
2024 · Alexandre Belot, Sarah Benezech, et al. · The Lancet · 4
Works count: 62
Citation count: 635
H-index: 11
I10-index: 12
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