Stephan C. Collins
Dijon, 21000, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 33 publications
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
Journal: medRxiv : the preprint server for health sciences
Published: December 03, 2025
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.
Journal: Nature communications
Published: October 17, 2025
RBMX functional retrocopy safeguards brain development in a species-dependent context.
Journal: Brain : a journal of neurology
Published: September 11, 2025
CRISPR knockout screens reveal genes and pathways essential for neuronal differentiation and implicate PEDS1 in neurodevelopment.
Journal: Nature neuroscience
Published: March 07, 2024
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Journal: EMBO molecular medicine
Published: January 09, 2024
De Novo Variants Found in Three Distinct Schizophrenia Populations Hit a Common Core Gene Network Related to Microtubule and Actin Cytoskeleton Gene Ontology Classes.
Journal: Life (Basel, Switzerland)
Published: December 31, 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Journal: Nature communications
Published: September 01, 2023
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Journal: Brain : a journal of neurology
Published: March 08, 2023
Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.
Journal: Genome biology
Published: January 15, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Journal: Brain : a journal of neurology
Published: November 02, 2022
Last Updated: 09/26/2026