Martin P. Broly
Montpellier, France
Last Updated: 09/26/2026
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Found 16 publications
Childhood-onset hypocomplementaemic urticarial vasculitis in France: phenotypic and genotypic diversity in 10 children.
Journal: Pediatric rheumatology online journal
Published: December 22, 2025
Somatic STAT5BN642H mutations shape variable immune landscapes resulting in heterogenous immune diseases.
Journal: The Journal of allergy and clinical immunology
Published: September 09, 2025
SpeckSeq enables high-throughput functional stratification of MEFV variants in autoinflammatory diseases.
Journal: The Journal of experimental medicine
Published: May 23, 2025
A new digenic inheritance of proteasome-associated autoinflammatory syndrome involving the PSMA6 gene.
Journal: The journal of allergy and clinical immunology. In practice
Published: March 17, 2025
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.
Journal: EBioMedicine
Published: April 29, 2024
Comparison of the ABC and ACMG systems for variant classification.
Journal: European journal of human genetics : EJHG
Published: December 19, 2023
Predictive Clinical and Biological Criteria for Gene Panel Positivity in Suspected Inherited Autoinflammatory Diseases: Insights from a Case-Control Study.
Journal: Genes
Published: September 21, 2023
Author Correction: Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
Journal: Nature communications
Published: February 02, 2023
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 07, 2022
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 07, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 06, 2020
Propionibacterium/Cutibacterium species-related positive samples, identification, clinical and resistance features: a 10-year survey in a French hospital.
Journal: European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology
Published: October 28, 2019
Last Updated: 09/26/2026