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European Journal of Human Genetics : EJHG|October 17, 2022
The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general populationVictoria Smuk, Javier A López-Rivera, Costin Leu, et al.
Nutrients|November 27, 2025
A Longitudinal Study of Adolescent Mental Health and Quality of Life as Predictors of College Physical Health, Mental Health, and Gluten-Free Diet Adherence in Celiac DiseaseTierra L Mosher, Lilly Jill Su, Javier A López-Rivera, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 31, 2022
Data-driven historical characterization of epilepsy-associated genesMarie Macnee, Eduardo Pérez-Palma, Javier A López-Rivera, et al.
Brain : a Journal of Neurology|March 14, 2020
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variantsJavier A López-Rivera, Eduardo Pérez-Palma, Joseph Symonds, et al.
Epilepsy & Behavior Reports|March 4, 2022
Incidence and prevalence of major epilepsy-associated brain lesionsJavier A López-Rivera, Victoria Smuk, Costin Leu, et al.
Developmental Neurobiology|April 20, 2019
Tao Negatively Regulates BMP Signaling During Neuromuscular Junction Development in DrosophilaStephen F Politano, Ryan R Salemme, James Ashley, et al.
Biorxiv : the Preprint Server for Biology|September 4, 2024
Patient-derived colon epithelial organoids reveal lipid-related metabolic dysfunction in pediatric ulcerative colitisBabajide A Ojo, Lyong Heo, Sejal R Fox, et al.
Nature Communications|December 10, 2025
Patient-derived colon epithelial organoids reveal lipid-related metabolic dysfunction in pediatric ulcerative colitisBabajide A Ojo, Ying Zhu, Lyong Heo, et al.
Acta Neuropathologica|March 27, 2023
Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genesLucas Hoffmann, Roland Coras, Katja Kobow, et al.
Brain : a Journal of Neurology|October 13, 2022
The genomic landscape across 474 surgically accessible epileptogenic human brain lesionsJavier A López-Rivera, Costin Leu, Marie Macnee, et al.
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