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Sleep|June 24, 2025
CAISR: achieving human-level performance in automated sleep analysis across all clinical sleep metricsSamaneh Nasiri, Wolfgang Ganglberger, Thijs Nassi, et al.
Human Genetics|December 15, 2021
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in malesHans-Jürgen Kreienkamp, Matias Wagner, Heike Weigand, et al.
Brain & Development|June 5, 2018
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutationsPauline Marzin, Cyril Mignot, Nathalie Dorison, et al.
Biorxiv : the Preprint Server for Biology|June 12, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ developmentXiao-Jun Li, Lin Li, Charles Morgan, et al.
Neurology|June 30, 2012
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European populationAurélie Méneret, David Grabli, Christel Depienne, et al.
Medrxiv : the Preprint Server for Health Sciences|November 19, 2025
The Brain Imaging and Neurophysiology Database: BINDing multimodal neural data into a large-scale repositoryCharlotte Maschke, Peter Hadar, Yicheng Zhang, et al.
Human Mutation|December 31, 2013
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1AMaria Virginia Soldovieri, Nadia Boutry-Kryza, Mathieu Milh, et al.
Nature Medicine|September 6, 2000
A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brainsC Peyron, J Faraco, W Rogers, et al.
JAMA Cardiology|December 16, 2016
Feasibility of Obtaining Measures of Lifestyle From a Smartphone App: The MyHeart Counts Cardiovascular Health StudyMichael V McConnell, Anna Shcherbina, Aleksandra Pavlovic, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 2, 2025
The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ developmentXiao-Jun Li, Charles Morgan, Phan Q Duy, et al.
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