List of works - Bruno Reversade

A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental Defects

scientific article published on 06 January 2021

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

scientific article

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

scientific article published on 19 October 2020

ELABELA deficiency promotes preeclampsia and cardiovascular malformations in mice

scientific article published on 29 June 2017

Enteroviral 3C protease activates the human NLRP1 inflammasome in airway epithelia

scientific article published on 22 October 2020

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

scientific article published in 2023

HOX epimutations driven by maternal SMCHD1/LRIF1 haploinsufficiency trigger homeotic transformations in genetically wildtype offspring

scientific article published in 2022

Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders

scientific article published on 22 April 2015

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

scientific article published on 11 September 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

scientific article published on 30 January 2020

Mitchell-Riley syndrome iPSC exhibit reduced pancreatic endoderm differentiation due to an RFX6 mutation

scientific article published on 08 October 2020

Mitochondrial peptide BRAWNIN is essential for vertebrate respiratory complex III assembly

scientific article published on 11 March 2020

Quantitative imaging reveals real-time Pou5f3-Nanog complexes driving dorsoventral mesendoderm patterning in zebrafish

scientific article published on 29 September 2016

R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors

scientific article published on 23 April 2020

Structural basis of RIP2 activation and signaling

scientific article published in Nature Communications

The Apelin receptor enhances Nodal/TGFβ signaling to ensure proper cardiac development.

scientific article published on 14 April 2016

List of works by Bruno Reversade