Bruno Reversade
8A Biomedical Grove
Immunos, Singapore
Immunos, Singapore
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 130 publications
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Journal: American journal of human genetics
Published: December 18, 2025
Global genetic interaction network of a human cell maps conserved principles and informs functional interpretation of gene co-essentiality profiles.
Journal: Cell
Published: November 25, 2025
Cranial placode differentiation defect in individuals born without a nose.
Journal: Stem cell reports
Published: June 05, 2025
IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
Journal: Nature communications
Published: January 13, 2025
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature.
Journal: American journal of human genetics
Published: October 08, 2024
Homozygous missense variant in C2orf69 causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation.
Journal: Journal of medical genetics
Published: October 03, 2024
Genomics of rare diseases in the Greater Middle East.
Journal: Nature genetics
Published: September 23, 2024
Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia.
Journal: Respirology case reports
Published: August 13, 2024
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.
Journal: Journal of human genetics
Published: March 05, 2024
Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.
Journal: Human molecular genetics
Published: July 27, 2023
Last Updated: 09/26/2026