Study of copy number variants in autism spectrum disorders and their comorbidities
Team Leader : Christelle GOLZIO
Department : Translational medecine and neurogenetics
Christelle GOLZIO
Researcher
christelle.golzio@igbmc.fr
Research team(s)
Publications
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2019
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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
- Suzanna Frints
- Aysegul Ozanturk
- Germán Rodriguez Criado
- Ute Grasshoff
- Bas de Hoon
- Michael Field
- Sylvie Manouvrier-Hanu
- Scott E Hickey
- Molka Kammoun
- Karen Gripp
- Claudia Bauer
- Christopher Schroeder
- Annick Toutain
- Theresa Mihalic Mosher
- Benjamin Kelly
- Peter White
- Andreas Dufke
- Eveline Rentmeester
- Sungjin Moon
- Daniel Koboldt
- ...
Mol Psychiatry ; Volume: 24 ; Page: 1748-1768
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Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions
- Thomas Arbogast
- Parisa Razaz
- Jacob Ellegood
- Spencer Mckinstry
- Serkan Erdin
- Benjamin Currall
- Tanya Aneichyk
- Jason Lerch
- Lily Qiu
- Ramona Rodriguiz
- R Henkelman
- Michael Talkowski
- William Wetsel
- Christelle Golzio
- Nicholas Katsanis
Human Molecular Genetics ; Volume: 28 ; Page: 1474-1486
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2017
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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs
- Maria Nicla Loviglio
- Thomas Arbogast
- Aia Elise Jønch
- Stephan C Collins
- Konstantin Popadin
- Camille S Bonnet
- Giuliana Giannuzzi
- Anne M Maillard
- Sébastien Jacquemont
- Binnaz Yalcin
- Nicholas Katsanis
- Christelle Golzio
- Alexandre Reymond
American Journal of Human Genetics ; Volume: 101 ; Page: 564 - 577
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Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
- Benjamin Helm
- Jason Willer
- Azita Sadeghpour
- Christelle Golzio
- Eric Crouch
- Samantha Schrier Vergano
- Nicholas Katsanis
- Erica Davis
Human Genomics ; Volume: 11
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