Yohann Schmitt

Paris, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 14 publications

In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.

In silico modeling guides identification of novel JAK1 variants associated with immune dysregulation.

Journal: EMBO molecular medicine

Published: April 09, 2025

Loss of WNT2B Results in Epithelial Defects and Predisposes to Gastrointestinal Dysplasia in Humans.

Loss of WNT2B Results in Epithelial Defects and Predisposes to Gastrointestinal Dysplasia in Humans.

Journal: Cellular and molecular gastroenterology and hepatology

Published: July 23, 2024

TARGET: A phase I/II open-label multicenter study to assess safety and efficacy of fexagratinib in patients with relapsed/refractory FGFR fusion-positive glioma.

TARGET: A phase I/II open-label multicenter study to assess safety and efficacy of fexagratinib in patients with relapsed/refractory FGFR fusion-positive glioma.

Journal: Neuro-oncology advances

Published: May 30, 2024

Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.

Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.

Journal: The Journal of allergy and clinical immunology

Published: March 23, 2023

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency.

Journal: The Journal of experimental medicine

Published: July 28, 2022

IDH-wildtype lower-grade diffuse gliomas: the importance of histological grade and molecular assessment for prognostic stratification.

IDH-wildtype lower-grade diffuse gliomas: the importance of histological grade and molecular assessment for prognostic stratification.

Journal: Neuro-oncology

Published: November 11, 2020

Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.

Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency.

Journal: The Journal of clinical investigation

Published: July 21, 2020

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Journal: Science (New York, N.Y.)

Published: June 22, 2020

Clinical, molecular, and radiomic profile of gliomas with FGFR3-TACC3 fusions.

Clinical, molecular, and radiomic profile of gliomas with FGFR3-TACC3 fusions.

Journal: Neuro-oncology

Published: May 16, 2020

FGFR1 actionable mutations, molecular specificities, and outcome of adult midline gliomas.

FGFR1 actionable mutations, molecular specificities, and outcome of adult midline gliomas.

Journal: Neurology

Published: December 09, 2017

Diffuse gliomas with FGFR3-TACC3 fusion have characteristic histopathological and molecular features.

Diffuse gliomas with FGFR3-TACC3 fusion have characteristic histopathological and molecular features.

Journal: Brain pathology (Zurich, Switzerland)

Published: July 19, 2017

Chromosome 17p Homodisomy Is Associated With Better Outcome in 1p19q Non-Codeleted and IDH-Mutated Gliomas.

Chromosome 17p Homodisomy Is Associated With Better Outcome in 1p19q Non-Codeleted and IDH-Mutated Gliomas.

Journal: The oncologist

Published: January 03, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026