Dalila Pinto

发表

Towards a comprehensive structural variation map of an individual human genome

John Wei, Matthew E Hurles, Hansoo Park, 2010, Genome Biology.

A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data

Toshiro Tango, Kunihiko Takahashi, Hirohisa Kishino, 2011, BMC Bioinformatics.

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

Ryan Mills, Ji Hyeon Park, Aparna Prasad, 2011, Nature Biotechnology.

Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications

Xavier Estivill, Johannes-Peter Haas, Sampath Prahalad, 2016, Annals of the rheumatic diseases.

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.

Contribution of SHANK3 mutations to autism spectrum disorder.

Christian R Marshall, Wendy Roberts, Dalila Pinto, 2007, American journal of human genetics.

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13.

Edouard Hirsch, Dalila Pinto, D. Pinto, 2005, Human molecular genetics.

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Wei Cheng, Jianxin Shi, Elvira Bramon, 2016, Nature Genetics.

Phenotypic association analyses with copy number variation in recurrent depressive disorder

Florian Holsboer, Gerome Breen, Marcella Rietschel, 2015 .

Disruption at the Ptchd1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability Nih Public Access

Chi-Chung Hui, Andre Franke, Geraldine Dawson, 2010 .

Identifying Signatures of Natural Selection in Tibetan and Andean Populations Using Dense Genome Scan Data

Rui Mei, Joshua M. Akey, Mark D. Shriver, 2010, PLoS genetics.

Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia

Joel Dudley, Kathryn Roeder, A. Ercument Cicek, 2016 .

A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder

Dalila Pinto, Elena Bonora, Raffaella Tancredi, 2014, Journal of Neurodevelopmental Disorders.

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.

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

Daniele Merico, Pingzhao Hu, Christian R Marshall, 2014, Nature Genetics.

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 in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Ute Moog, Volker Endris, Christian R. Marshall, 2010, Nature Genetics.

Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms

Cisca Wijmenga, Dalila Pinto, Alexandra Zhernakova, 2008, PloS one.

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

Alistair T. Pagnamenta, Veronica J. Vieland, Anthony P. Monaco, 2011, Journal of Neurodevelopmental Disorders.

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.

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

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