Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, +174

Nature

Autism Spectrum DisordersSyndromic AutismGeneticsPsychiatric GeneticsAutism +2

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Joseph Glessner, Kai Wang, Guiqing Cai, +56

Nature

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Kai Wang, Haitao Zhang, Deqiong Ma, +52

Nature

Neurodevelopmental DisordersSyndromic AutismGenetic DisorderGeneticsPsychiatric Genetics +5

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

Richard Anney, Lambertus Klei, Dalila Pinto, +162

Human Molecular Genetics

R47H Variant of<i>TREM2</i>Associated With Alzheimer Disease in a Large Late-Onset Family

Olena Korvatska, James B. Leverenz, Suman Jayadev, +13

JAMA Neurology

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

Olena Korvatska, Nicholas S. Strand, Jason D. Berndt, +16

Human Molecular Genetics

Support for the N -Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families

Andrew E. Timms, Michael O. Dorschner, Jeremy Wechsler, +9

JAMA Psychiatry

<i>ADCY5</i> -related dyskinesia

Donghui Chen, Aurélie Méneret, Jennifer Friedman, +28

Neurology

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation

Fabia Filipello, Shih‐Feng You, Farzaneh S. Mirfakhar, +20

Acta Neuropathologica

Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer’s Disease Brain

Olena Korvatska, Kostantin Kiianitsa, Alexander V. Ratushny, +9

Frontiers in Immunology