Martin Broly
Université de Montpellier(FR)Centre de Référence des Maladies Autoinflammatoires et des Amyloses(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Ubiquitin and proteasome pathways, Inflammasome and immune disorders, Genetics and Neurodevelopmental Disorders, Bioinformatics and Genomic Networks
Most-Cited Works
- → A Proteome-Scale Map of the Human Interactome Network(2014)1,438 cited
- → Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism(2014)149 cited
- → Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior(2021)83 cited
- → THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder(2022)43 cited
- → Rapid genetic and phenotypic changes in Pseudomonas aeruginosa clinical strains during ventilator-associated pneumonia(2019)43 cited
- → Propionibacterium/Cutibacterium species–related positive samples, identification, clinical and resistance features: a 10-year survey in a French hospital(2020)24 cited
- → De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder(2022)10 cited
- → Comparison of the ABC and ACMG systems for variant classification(2024)10 cited
- → Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior(2020)9 cited
- → Hidden intra-mandibular carcinoma cuniculatum appearing in a patient with metastatic prostate cancer: a case report(2019)6 cited