Catalina Betancur

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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Thomas Bourgeron, Fabien Fauchereau, Christopher Gillberg, 2007, Nature Genetics.

Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

Laura J. Scott, Naomi R. Wray, Margaret A. Pericak-Vance, 2015, American journal of human genetics.

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

C. Betancur, Catalina Betancur, 2011, Brain Research.

Possible association between the androgen receptor gene and autism spectrum disorder

Kent Thuresson, Lina Jonsson, Christopher Gillberg, 2009, Psychoneuroendocrinology.

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

Elodie Ey, Thomas Bourgeron, Roberto Toro, 2012, PLoS genetics.

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

Richard Delorme, Alain Verloes, Marion Leboyer, 2012, European Journal of Human Genetics.

Bmc Medical Genomics Multiplex Ligation-dependent Probe Amplification for Genetic Screening in Autism Spectrum Disorders: Efficient Identification of Known Microduplications and Identification of a Novel Microduplication in Asmt

Evdokia Anagnostou, Eric Hollander, L. Soorya, 2022 .

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

Takeshi Sakurai, Joseph D. Buxbaum, J. Buxbaum, 2009, Trends in Neurosciences.

Increased rate of twins among affected sibling pairs with autism.

Christopher Gillberg, Marion Leboyer, C. Gillberg, 2002, American journal of human genetics.

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature

Alexander Kolevzon, Joseph D. Buxbaum, A. Kolevzon, 2019, Molecular Autism.

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Thomas Bourgeron, Alberto Segre, Alberto Maria Segre, 2007, Nature Genetics.

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Jianxin Shi, Susmita Datta, Aribert Rothenberger, 2013, Nature Genetics.

Analysis of X chromosome inactivation in autism spectrum disorders

Thomas Bourgeron, Fabien Fauchereau, Xiaohong Gong, 2008, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Christopher Gillberg, Richard Delorme, Alain Verloes, 2015, Molecular Autism.

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

Thomas Bourgeron, Ellen M. Wijsman, Gillian Baird, 2014, Nature Communications.

Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism

Caleb Webber, Chris P. Ponting, Christian R. Marshall, 2013, PLoS genetics.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Elodie Ey, Thomas Bourgeron, Roberto Toro, 2014, PLoS genetics.

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Thomas Bourgeron, Christopher Gillberg, Maria Råstam, 2003, Nature Genetics.

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Bekim Sadikovic, Roger E. Stevenson, Daniel H. Geschwind, 2012, Proceedings of the National Academy of Sciences.

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

Christopher Gillberg, Alain Verloes, Marion Leboyer, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Laura J. Scott, Naomi R. Wray, Margaret A. Pericak-Vance, 2015, Nature Neuroscience.

Individual common variants exert weak effects on the risk for autism spectrum disorders

Margaret A. Pericak-Vance, Kathryn Roeder, Thomas Bourgeron, 2012, Human molecular genetics.

Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features

Patrick R Hof, J. Buxbaum, C. Betancur, 2012, Molecular Autism.

A genome-wide scan for common alleles affecting risk for autism

Margaret A. Pericak-Vance, Kathryn Roeder, Thomas Bourgeron, 2010, Human molecular genetics.