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Briefings in Bioinformatics|August 14, 2023
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosisRobert Wang, Ingo Helbig, Andrew C Edmondson, et al.
Current Problems in Pediatric and Adolescent Health Care|June 2, 2024
Advances in big data and omics: Paving the way for discovery in childhood epilepsiesJan Magielski, Ian McSalley, Shridhar Parthasarathy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 22, 2025
Clinical signatures of SYNGAP1-related disorders through data integrationJillian L McKee, Jan H Magielski, Julie Xian, et al.
Expert Review of Neurotherapeutics|October 28, 2016
Precision medicine in genetic epilepsies: break of dawn?Philipp Sebastian Reif, Meng-Han Tsai, Ingo Helbig, et al.
Molecular Psychiatry|July 14, 2026
Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorderAlex J Felix, Brandon L Brown, Nicolas Marotta, et al.
Biorxiv : the Preprint Server for Biology|February 6, 2026
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic developmentJayne Aiken, Carris Borland, Nicolas Marotta, et al.
The Journal of Physiology|August 5, 2009
The Qgamma component of intra-membrane charge movement is present in mammalian muscle fibres, but suppressed in the absence of S100A1Benjamin L Prosser, Erick O Hernández-Ochoa, Danna B Zimmer, et al.
The Journal of Physiology|August 5, 2009
Simultaneous recording of intramembrane charge movement components and calcium release in wild-type and S100A1-/- muscle fibresBenjamin L Prosser, Erick O Hernández-Ochoa, Danna B Zimmer, et al.
Frontiers in Neurology|June 26, 2023
<i>KCNC2</i> variants of uncertain significance are also associated to various forms of epilepsySimone Seiffert, Manuela Pendziwiat, Ulrike B S Hedrich, et al.
Genes|August 27, 2021
Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health RecordsJames Margolin Havrilla, Mengge Zhao, Cong Liu, et al.
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