Publications by authors named "Stephan Collins"

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe, Stephan Collins

Nat Commun· November 2025

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Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
Ilaria Parenti, Alina Hesters, Marta Gil-Salvador, Laura Duffy, Deniz Kanber, Stephan C Collins

medRxiv· November 2025

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Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.
Efil Bayam, Peggy Tilly, Stephan C Collins, José Rivera Alvarez, Meghna Kannan

EMBO Mol Med· January 2025

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ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.
Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro

Brain· July 2024

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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, Takeo Yoshikawa, Binnaz Yalcin, Stephan C Collins

Life (Basel)· February 2024

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Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Maria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A Arshad, Stephan C Collins

Brain· November 2023

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Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.
Perrine F Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Stephan C Collins

Genome Biol· November 2023

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Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected.
Charlotte Montillot, Emilia Skutunova, Ayushma, Morgane Dubied, Adam Lahmar, Stephan C Collins

Neurobiol Dis· September 2023

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
David Picketts, Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Stephan Collins

Res Sq· September 2023

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YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Anne-Sophie Denommé-Pichon, Stephan C Collins, Ange-Line Bruel, Anna Mikhaleva, Christel Wagner

Genet Med· July 2023

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Characterization of Two Mouse 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, Christel Wagner, Rebecca Balz

Int J Mol Sci· September 2022

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Quantitative Neuroanatomical Phenotyping of the Embryonic Mouse Brain.
Sylvie Nguyen, Meghna Kannan, Marion Gaborit, Stephan C Collins, Binnaz Yalcin

Curr Protoc· July 2022

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Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
Delfina M Romero, Karine Poirier, Richard Belvindrah, Imane Moutkine, Anne Houllier, Stephan C Collins

Nat Commun· May 2022

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Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.
Lettie E Rawlins, Hashem Almousa, Shazia Khan, Stephan C Collins, Miroslav P Milev

PLoS Genet· March 2022

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A Positively Selected MAGEE2 LoF Allele Is Associated with Sexual Dimorphism in Human Brain Size and Shows Similar Phenotypes in Magee2 Null Mice.
Michał Szpak, Stephan C Collins, Yan Li, Xiao Liu, Qasim Ayub

Mol Biol Evol· December 2021

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Haploinsufficiency of the HIRA gene located in the 22q11 deletion syndrome region is associated with abnormal neurodevelopment and impaired dendritic outgrowth.
Médéric Jeanne, Marie-Laure Vuillaume, Dévina C Ung, Valerie E Vancollie, Christel Wagner, Stephan C Collins

Hum Genet· June 2021

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Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Anna R Duncan, Antonio Vitobello, Stephan C Collins, Valerie E Vancollie, Christopher J Lelliott

Am J Hum Genet· December 2020

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A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.
Mathieu Milh, Pierre Roubertoux, Najoua Biba, Julie Chavany, Adeline Spiga Ghata, Stephan Christopher Collins

Epilepsia· May 2020

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The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia.
Stephan C Collins, Ana Uzquiano, Mohammed Selloum, Olivia Wendling, Marion Gaborit

J Anat· September 2019

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Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.
Stephan C Collins, Anna Mikhaleva, Katarina Vrcelj, Valerie E Vancollie, Christel Wagner

Nat Commun· August 2019

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TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.
Ekaterina L Ivanova, Johan G Gilet, Vadym Sulimenko, Arnaud Duchon, Gabrielle Rudolf, Stephan C Collins

Nat Commun· May 2019

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Mitochondrial Dynamin-Related Protein 1 (DRP1) translocation in response to cerebral glucose is impaired in a rat model of early alteration in hypothalamic glucose sensing.
Lucie Desmoulins, Chloé Chrétien, Romain Paccoud, Stephan Collins, Céline Cruciani-Guglielmacci

Mol Metab· February 2019

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Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.
Jingtao Lilue, Anthony G Doran, Ian T Fiddes, Monica Abrudan, Joel Armstrong, Joanna Collins, Stephan Collins

Nat Genet· November 2018

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A Method for Parasagittal Sectioning for Neuroanatomical Quantification of Brain Structures in the Adult Mouse.
Stephan C Collins, Christel Wagner, Léo Gagliardi, Perrine F Kretz, Marie-Christine Fischer

Curr Protoc Mouse Biol· September 2018

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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, Coralie Spiegelhalter, Marianne Rodriguez, Stephan C Collins

PLoS One· June 2018

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