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Nature|July 18, 2012
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisChi-Hong Wu, Claudia Fallini, Nicola Ticozzi, et al.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.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.Nature Genetics|July 31, 2012
De novo mutations in ATP1A3 cause alternating hemiplegia of childhoodErin L Heinzen, Kathryn J Swoboda, Yuki Hitomi, et al.The New England Journal of Medicine|June 18, 2015
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive InfectionsKerry Dobbs, Cecilia Domínguez Conde, Shen-Ying Zhang, et al.Pageof 51