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Medrxiv : the Preprint Server for Health Sciences|April 20, 2026
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneityAlicia G Harrison, Shiva Ganesan, Hongbo M Xie, et al.
Communications Biology|September 18, 2023
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneuronsChad R Camp, Anna Vlachos, Chiara Klöckner, et al.
Progres En Urologie : Journal De L'Association Francaise D'Urologie Et De La Societe Francaise D'Urologie|November 1, 2019
[Renal Trauma]L Freton, B Pradere, G Fiard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2024
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individualsPeter D Galer, Shridhar Parthasarathy, Julie Xian, et al.
Epilepsia|March 8, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findingsColin A Ellis, Juliette Copeland, Isabella Velez, et al.
Elife|January 17, 2023
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disordersLydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, et al.
Biorxiv : the Preprint Server for Biology|April 10, 2026
Infant gut microbiomes contribute to metabolic states that impact brain functionFiras S Midani, Do-Hun Lee, Younghye Moon, et al.
American Journal of Human Genetics|February 22, 2024
De novo variants in DENND5B cause a neurodevelopmental disorderMarcello Scala, Valeria Tomati, Matteo Ferla, et al.
European Journal of Neurology|September 14, 2020
Functional and radiological outcomes after bridging therapy versus direct thrombectomy in stroke patients with unknown onset: Bridging therapy versus direct thrombectomy in unknown onset stroke patients with 10-point ASPECTSM Cappellari, V Saia, G Pracucci, et al.
Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
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