Stephan C Collins

6PUBLICATIONS
49CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Genome structure and regulationGene expression (incl. microarray and other genome-wide approaches)Electronic and magnetic properties of condensed matter; superconductivityGlycobiology
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Publications (6)

|Mar 30, 2026
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.

Ilaria Parenti, Alina Hesters, Marta Gil-Salvador

|Nov 28, 2024
Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

Efil Bayam, Peggy Tilly, Stephan C Collins

|Feb 24, 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.

Yann Loe-Mie, Christine Plançon, Caroline Dubertret

|Oct 14, 2022
Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome.

Stephan C Collins, Valerie E Vancollie, Anna Mikhaleva

|Mar 17, 2022
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.

Lettie E Rawlins, Hashem Almousa, Shazia Khan

|Mar 16, 2018
Modulation of large dense core vesicle insulin content mediates rhythmic hormone release from pancreatic beta cells over the 24h cycle.

Aurore Quinault, Corinne Leloup, Geoffrey Denwood

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Frequent Collaborators

5 joint publications

Binnaz Yalcin

2 joint publications

Christopher J Lelliott

1 joint publications

Lettie E Rawlins

1 joint publications

Hashem Almousa