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Journal of Medical Genetics|June 24, 2020
Defining the phenotypical spectrum associated with variants in TUBB2AStefanie Brock, Tim Vanderhasselt, Sietske Vermaning, et al.
The Journal of Pediatrics|June 25, 2025
Implementation of First-Line Rapid Genome Sequencing in Non-Critical Care Pediatric WardsAlexandra C Keefe, Abbey A Scott, Lukas Kruidenier, et al.
Nature Reviews. Neurology|September 8, 2020
International consensus recommendations on the diagnostic work-up for malformations of cortical developmentRenske Oegema, Tahsin Stefan Barakat, Martina Wilke, et al.
Epilepsia|December 6, 2025
Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insightsSebastian Ortiz, Chiara Bagliani, Susan X N Lin, et al.
Biorxiv : the Preprint Server for Biology|March 27, 2026
Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsyRoberta Castelli, Carla Marini, Alessandro Porro, et al.
European Journal of Human Genetics : EJHG|May 7, 2015
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct faciesJianling Ji, Hane Lee, Bob Argiropoulos, et al.
Neurology. Genetics|February 12, 2020
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathyKatrine M Johannesen, Diana Mitter, Robert Janowski, et al.
American Journal of Human Genetics|August 26, 2025
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizuresSankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, et al.
Annals of Clinical and Translational Neurology|May 17, 2023
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndromeJonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, et al.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2AAndrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, et al.
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