- Works count
- 555
- Citation count
- 53,529
- H-index
- 86
- i10-index
- 176
Research interests
Publications
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
Epilepsia · 2020 · https://doi.org/10.1111/epi.16438
Predicting Splicing from Primary Sequence with Deep Learning
Cell · 2019 · https://doi.org/10.1016/j.cell.2018.12.015
Progress in Understanding and Treating SCN2A-Mediated Disorders
Trends in Neurosciences · 2018 · https://doi.org/10.1016/j.tins.2018.03.011
Integrative functional genomic analysis of human brain development and neuropsychiatric risks
Science · 2018 · https://doi.org/10.1126/science.aat7615
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Nature Genetics · 2017 · https://doi.org/10.1038/ng.3863
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Nature Genetics · 2017 · https://doi.org/10.1038/ng.3970
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
Nature Genetics · 2016 · https://doi.org/10.1038/ng.3529
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
Neuron · 2015 · https://doi.org/10.1016/j.neuron.2015.09.016
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Science · 2015 · 10.1126/science.aac9396
The contribution of de novo coding mutations to autism spectrum disorder
Nature · 2014 · https://doi.org/10.1038/nature13908
Most genetic risk for autism resides with common variation
Nature Genetics · 2014 · 10.1038/ng.3039
De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder
Cell Reports · 2014 · https://doi.org/10.1016/j.celrep.2014.08.068
Synaptic, transcriptional and chromatin genes disrupted in autism
Nature · 2014 · 10.1038/nature13772
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Neuron · 2013 · https://doi.org/10.1016/j.neuron.2012.11.002
De novo mutations in histone-modifying genes in congenital heart disease
Nature · 2013 · 10.1038/nature12141
Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
Cell · 2013 · https://doi.org/10.1016/j.cell.2013.10.020
Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
The American Journal of Human Genetics · 2012 · https://doi.org/10.1016/j.ajhg.2012.10.007
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Nature · 2012 · https://doi.org/10.1038/nature10945
Common genetic variants, acting additively, are a major source of risk for autism
Molecular Autism · 2012 · https://doi.org/10.1186/2040-2392-3-9
Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism
Biological Psychiatry · 2011 · https://doi.org/10.1016/j.biopsych.2011.09.034
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Neuron · 2011 · https://doi.org/10.1016/j.neuron.2011.05.002
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
Nature · 2010 · https://doi.org/10.1038/nature09327
L-Histidine Decarboxylase and Tourette's Syndrome
New England Journal of Medicine · 2010 · https://doi.org/10.1056/nejmoa0907006
Current projects
No projects listed.