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Brain : a Journal of Neurology|June 2, 2025
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathwayYoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2018
Genomic sequencing identifies secondary findings in a cohort of parent study participantsMichelle L Thompson, Candice R Finnila, Kevin M Bowling, et al.
Cold Spring Harbor Molecular Case Studies|December 15, 2019
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory allelesJ Nicholas Cochran, Emily C McKinley, Meagan Cochran, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 27, 2020
A state-based approach to genomics for rare disease and population screeningKelly M East, Whitley V Kelley, Ashley Cannon, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 25, 2022
Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disordersJian Zhou, Hamdan Hamdan, Hari Krishna Yalamanchili, et al.
Genome Medicine|May 31, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delayKevin M Bowling, Michelle L Thompson, Michelle D Amaral, et al.
Epilepsia|July 10, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathyMarina Trivisano, Alessandro Ferretti, Elizabeth Bebin, et al.
American Journal of Medical Genetics. Part A|February 29, 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delayThoa Ha, Angela Morgan, Meghan N Bartos, 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.
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