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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.
American Journal of Human Genetics|May 20, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.
Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
A Prospective Natural History Study Protocol for Clinical Trial Readiness in Synaptic DisordersJillian L McKee, Sarah M Ruggiero, Kristin Cunningham, et al.
Epilepsia|July 14, 2026
A prospective natural history study protocol for clinical trial readiness in synaptic disordersJillian L McKee, Sarah M Ruggiero, Kristin Cunningham, et al.
Brain : a Journal of Neurology|February 22, 2022
Assessing the landscape of STXBP1-related disorders in 534 individualsJulie Xian, Shridhar Parthasarathy, Sarah M Ruggiero, et al.
Genes|July 27, 2024
Expanding Genetic Counselor Roles: A Model for Global Research DevelopmentColleen C Muraresku, Elizabeth M McCormick, Lydia Rockart, et al.
Neurology|January 2, 2024
Molecular and Phenotypic Characterization of the RORB-Related DisorderZeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
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