Author

Martin Broly

Centre National de la Recherche ScientifiqueORCID 0009-0005-4685-7063Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:bulk RNA-seq· 2 Research Focus:differential expression· 2 Approach:statistical model· 2 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Sébastien KüryiD· 2 shared Abolfazl RadiD· 1 shared Ada HamoshiD· 1 shared Agnese LodaiD· 1 shared Alan H. BeggsiD· 1 shared Ali TorkamaniiD· 1 shared Alice PoissoniD· 1 shared Amélie PitoniD· 1 shared

Activity by Year

2021-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Sébastien KüryORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintDec 20, 2025

CIZ1-LOSS CAUSES FEMALE-SPECIFIC AUTOSOMAL NEURODEVELOPMENTAL DISORDER THROUGH DEFECTIVE X-INACTIVATION MAINTENANCE

Thomas Besnard, Agnese Loda, Emma Kneuss…·Bertrand Isidor

The paper identifies a female-specific neurodevelopmental disorder caused by biallelic CIZ1 loss-of-function variants, which disrupt X-chromosome inactivation maintenance.

1 citation

humanexperimental assay

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Genetic & Genomic MedicinemedRxivPreprintDec 18, 2025

Improved Identification of Large-effect Rare Genetic Variants using Haplotype Aggregated Allele-specific Expression Data

Kaushik Ram Ganapathy, Martin Broly, Sarah Silverstein…·Pejman Mohammadi

ANEVA-h improves detection of rare regulatory variants by analyzing haplotype-level ASE data, increasing testable genes and reducing false positives in GTEx and clinical cohorts.

1 citation

humanbulk RNA-seq

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 3, 2021

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny F. Lai…·Timothy W. Yu

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

84 citationstop 3%

humanbulk RNA-seq

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