Emmanuelle Ravi-Szenker

60 Biopolis St
Singapore, 138672, Singapore

Last Updated: 09/26/2026

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Found 17 publications

Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia.

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.

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.

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish.

Journal: Human molecular genetics
Published: July 27, 2023

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.

Journal: Nature genetics
Published: July 24, 2023

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.

Journal: American journal of human genetics
Published: April 20, 2023

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.

Journal: EMBO molecular medicine
Published: June 21, 2022

Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.

Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.

Journal: Nature genetics
Published: March 19, 2022

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.

Journal: The New England journal of medicine
Published: September 29, 2021

R-SPONDIN2+ mesenchymal cells form the bud tip progenitor niche during human lung development.

R-SPONDIN2+ mesenchymal cells form the bud tip progenitor niche during human lung development.

Journal: Developmental cell
Published: March 22, 2021

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.

Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.

Journal: Nature genetics
Published: December 08, 2020

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.

Journal: Human mutation
Published: February 14, 2020

A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.

A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.

Journal: Clinical genetics
Published: January 21, 2020
Showing 1-12 of 17

Last Updated: 09/26/2026