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American Journal of Human Genetics|April 26, 2016
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and SeizuresSlavé Petrovski, Sébastien Küry, Candace T Myers, et al.
The Lancet. Neurology|October 5, 2007
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control studyGianpiero L Cavalleri, Michael E Weale, Kevin V Shianna, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
JAMA Network Open|March 11, 2026
Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective VariantElena Martinelli, Juntao Ke, Atlas Khan, et al.
Neurology|August 17, 2021
Contemporary Neuroscience Core Curriculum for Medical SchoolsDouglas J Gelb, Jeff Kraakevik, Joseph E Safdieh, et al.
Proceedings of the National Academy of Sciences of the United States of America|November 11, 2015
Polymorphisms of large effect explain the majority of the host genetic contribution to variation of HIV-1 virus loadPaul J McLaren, Cedric Coulonges, István Bartha, et al.
Cerebrovascular Diseases (Basel, Switzerland)|March 23, 2021
Stroke Care during the COVID-19 Pandemic: International Expert Panel ReviewNarayanaswamy Venketasubramanian, Craig Anderson, Hakan Ay, et al.
Nature|June 21, 2019
Noncoding deletions reveal a gene that is critical for intestinal functionDanit Oz-Levi, Tsviya Olender, Ifat Bar-Joseph, et al.
Brain : a Journal of Neurology|June 5, 2010
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association studyDalia Kasperaviciūte, Claudia B Catarino, Erin L Heinzen, et al.
Medrxiv : the Preprint Server for Health Sciences|January 5, 2021
Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19Gundula Povysil, Guillaume Butler-Laporte, Ning Shang, et al.
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