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Publications by Ailbhe O'Driscoll-Collins
A Case-Control Collapsing Analysis Identifies Epilepsy Genes Implicated in Trio Sequencing Studies Focused on De Novo Mutations
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
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Clinical Exome Sequencing Identifies Two Novel Mutations of the SCN1A and SCN2A Genes in Moroccan Patients With Epilepsy: A Case Series
Journal of Medical Case Reports
Medicine
Exome Sequencing to Identify De Novo Mutations in Sporadic ALS Trios
Nature Neuroscience
Neuroscience
Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample
Journal of Molecular Neuroscience
Medicine
Molecular Neuroscience
Cellular
Targeted Resequencing in Epileptic Encephalopathies Identifies De Novo Mutations in CHD2 and SYNGAP1
Nature Genetics
Genetics
Targeted Sequencing of Cancer-Related Genes in Nasopharyngeal Carcinoma Identifies Mutations in the TGF-β Pathway
Cancer Medicine
Cancer Research
Nuclear Medicine
Radiology
Imaging
Oncology
Exome Sequencing Identifies Recurrent Somatic RAC1 Mutations in Melanoma
Nature Genetics
Genetics
Genomic Sequencing-Based Mutational Enrichment Analysis Identifies Motility Genes in a Genetically Intractable Gut Microbe
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Exome Sequencing Identifies Molecular Diagnosis in Children With Drug-Resistant Epilepsy
Epilepsia Open
Neurology
Recurrent De Novo Mutations Implicate Novel Genes Underlying Simplex Autism Risk
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
