# Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/genetic-and-functional-analyses-of-shank2-mutations-suggest-a-multiple-hit-model/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Claire S. Leblond,Jutta Heinrich,Richard Delorme,Christian Proepper,Catalina Betancur,Guillaume Huguet,Marina Konyukh,Pauline Chaste,Elodie Ey,Maria Råstam,Henrik Anckarsäter,Gudrun Nygren,I. Carina Gillberg,Jonas Melke,Roberto Toro,Béatrice Regnault,Fabien Fauchereau,Oriane Mercati,Nathalie Lemière,David Skuse,Martin Poot,Richard Holt,Anthony P. Monaco,Irma Järvelä,Katri Kantojärvi,Raija Vanhala,Sarah Curran,David Collier,Patrick Bolton,Andreas G. Chiocchetti,Sabine M. Klauck,Fritz Poustka,Christine M. Freitag,Regina Waltes,Marnie Kopp,Eftichia Duketis,Elena Bacchelli,Fiorella Minopoli,Liliana Ruta,Agatino Battaglia,Luigi Mazzone,Elena Maestrini,Ana Filipa Sequeira,Bárbara Oliveira,Astrid M. Vicente,Guiomar Oliveira,Dalila Pinto,Stephen W. Scherer,Diana Zélénika,Marc Délepine,Mark Lathrop,Dominique Bonneau,Vincent Guinchat,Françoise Devillard,Brigitte Assouline,Marie–Christine Mouren,Marion Leboyer,Christopher Gillberg,Tobias M. Boeckers,Thomas Bourgeron |
| Citations | 446 |
| DOI | 10.1371/journal.pgen.1002521 |
| Fields | Biochemistry, Genetics and Molecular Biology,Neuroscience |
| Open Access | true |
| OA Status | gold |
| OA URL | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002521&type=printable |
| OpenAlex ID | https://openalex.org/W2123194540 |
| PMID | 22346768 |
| Type | article |
| Year | 2012 |

## Paper authors

- [Gudrun Nygren](https://scholariq.org/researchers/gudrun-nygren/)
- [Henrik Anckarsäter](https://scholariq.org/researchers/henrik-anckarsater/)
- [Christopher Gillberg](https://scholariq.org/researchers/christopher-gillberg/)

## Paper primary topic

- [Autism Spectrum Disorder Research](https://scholariq.org/topics/autism-spectrum-disorder-research/)

## Paper topics

- [Autism Spectrum Disorder Research](https://scholariq.org/topics/autism-spectrum-disorder-research/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.