Maud Tusseau

Bron, France

Last Updated: 09/26/2026

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Found 37 publications

Functional and Molecular Characterization of Novel GDF2 (BMP9) and BMP10 Variants From the French PAH and HHT Cohorts.

Functional and Molecular Characterization of Novel GDF2 (BMP9) and BMP10 Variants From the French PAH and HHT Cohorts.

Journal: Circulation. Genomic and precision medicine
Published: June 09, 2026

Paediatric-onset autoimmune cytopenia: How can we reduce the long-term mortality?

Paediatric-onset autoimmune cytopenia: How can we reduce the long-term mortality?

Journal: British journal of haematology
Published: March 11, 2026

From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity.

From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity.

Journal: British journal of haematology
Published: March 05, 2026

A novel STAT4 gain-of-function variant defines a monogenic form of juvenile-onset systemic lupus erythematosus.

A novel STAT4 gain-of-function variant defines a monogenic form of juvenile-onset systemic lupus erythematosus.

Journal: Annals of the rheumatic diseases
Published: February 21, 2026

Childhood-onset hypocomplementaemic urticarial vasculitis in France: phenotypic and genotypic diversity in 10 children.

Childhood-onset hypocomplementaemic urticarial vasculitis in France: phenotypic and genotypic diversity in 10 children.

Journal: Pediatric rheumatology online journal
Published: December 22, 2025

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.

Journal: EBioMedicine
Published: October 07, 2025

Novel TLR7 gain-of-function variant and review of the associated disease spectrum.

Novel TLR7 gain-of-function variant and review of the associated disease spectrum.

Journal: Journal of human immunity
Published: September 12, 2025

A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.

A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.

Journal: Annals of the rheumatic diseases
Published: July 24, 2025

The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.

The STING HAQ haplotype and clinical non-penetrance in COPA syndrome.

Journal: The Journal of experimental medicine
Published: July 18, 2025

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia.

Journal: Communications biology
Published: April 23, 2025

Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort.

Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort.

Journal: Journal of medical genetics
Published: March 24, 2025

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.

Insights from a novel monogenic autoinflammatory disease: overview of a multicentric European cohort of 38 patients with COPA syndrome.

Journal: Annals of the rheumatic diseases
Published: March 18, 2025
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Last Updated: 09/26/2026