Laurie Robak

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Laurie Robak, Iris E. Jansen, Jeroen van Rooij et al. · Brain · 2017 · 451 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala et al. · JAMA Pediatrics · 2017 · 431 citations · Full text

Medicine, Genetics, Pediatrics +14

Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

Catherine S. Storm, Demis A. Kia, Mona Mohammad Almramhi et al. · Nature Communications · 2021 · 214 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets

Demis A. Kia, David Zhang, Sebastian Guelfi et al. · JAMA Neurology · 2021 · 203 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard et al. · The American Journal of Human Genetics · 2017 · 201 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12