Présentation
Publications scientifiques
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2025
Clinical manifestations, disease penetrance, and treatment in individuals wit..., Lancet Rheumatol
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2023
Tubulin mutations in human neurodevelopmental disorders, Elsevier BV
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2022
Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy., Clin Gastroenterol Hepatol
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2021
Mevalonate Kinase Deficiency: A Cause of Severe Very-Early-Onset Inflammatory..., Inflamm Bowel Dis
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2021
Duplication of the IL2RA locus causes excessive IL-2 signaling and may predis..., Mucosal Immunol
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2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated wit..., Am J Hum Genet
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2021
Intestinal immunoregulation: lessons from human mendelian diseases., Mucosal Immunol
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2020
Loss-of-Function Mutation in PTPN2 Causes Aberrant Activation of JAK Signalin..., Gastroenterology
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2018
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associ..., Gastroenterology
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2018
Inherited p40phox deficiency differs from classic chronic granulomatous disease., J Clin Invest
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2018
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammato..., J Crohns Colitis