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

Laurie Robak, Iris E. Jansen, Jeroen van Rooij, +134

Brain

GeneticsGenetic EpidemiologyVariant BurdenDisease Gene IdentificationGenome-wide Association Study +14

Use of Exome Sequencing for Infants in Intensive Care Units

Linyan Meng, Mohan Pammi, Anirudh Saronwala, +51

JAMA Pediatrics

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, +170

Nature Communications

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

Demis A. Kia, David Zhang, Sebastian Guelfi, +158

JAMA Neurology

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

Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, +99

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsMolecular GeneticsDisease Gene Identification +3

Synaptic Function for the Nogo-66 Receptor NgR1: Regulation of Dendritic Spine Morphology and Activity-Dependent Synaptic Strength

Hakjoo Lee, Stephen J. Raiker, Karthik Venkatesh, +6

Journal of Neuroscience

Nogo-66 Receptor Ngr1Mature Nervous SystemSynaptic SignalingSynaptic FunctionSocial Sciences +19

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

Kimberley J. Billingsley, Inês A. Barbosa, Sara Bandrés‐Ciga, +136

npj Parkinson s Disease

NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases

Cornelis Blauwendraat, Faraz Faghri, Lasse Pihlstrøm, +38

Neurobiology of Aging

Neurodegenerative DiseasesNeurological DisorderMedicineGeneticsUpdated Version +6

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson’s disease heritability

Regina H. Reynolds, Juan A. Botía, Mike A. Nalls, +134

npj Parkinson s Disease

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

Kezhi Yan, Justine Rousseau, Rebecca O. Littlejohn, +31

The American Journal of Human Genetics

ChromatinGenome InstabilityChromatin StructureChromatin RemodelingGenetic Disorder +10