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NPJ Genomic Medicine|March 18, 2026
Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndromeLamis Yehia, Lin Li, Gideon Idumah, et al.Computational and Structural Biotechnology Journal|January 29, 2024
Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCsCarole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, et al.Pediatric Neurology|April 29, 2023
Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis ComplexAlexis Levine, Peter Davis, Bo Zhang, et al.Plos Genetics|November 6, 2015
Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional TestingMagdalena E Tyburczy, Kira A Dies, Jennifer Glass, et al.Stem Cell Research|April 27, 2024
Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controlsWardiya Afshar-Saber, Cidi Chen, Nicole A Teaney, et al.Nature Neuroscience|December 5, 2006
Cdk5 regulates EphA4-mediated dendritic spine retraction through an ephexin1-dependent mechanismWing-Yu Fu, Yu Chen, Mustafa Sahin, et al.The Laryngoscope|July 27, 2021
Predictors of Aspiration Pneumonia and Mortality in Patients with DysphagiaNogah Nativ-Zeltzer, Yuval Nachalon, Matthew W Kaufman, et al.Pediatric Neurology|March 5, 2026
Early Vocal Development in Tuberous Sclerosis Complex Predicts Language but Not Autism OutcomesTanjala T Gipson, Edina R Bene, Ching-Chi Yang, et al.Pediatric Neurology|April 22, 2019
Tuberous Sclerosis Complex Genotypes and Developmental PhenotypeLaura S Farach, Deborah A Pearson, John P Woodhouse, et al.Journal of Autism and Developmental Disorders|May 24, 2023
Morphological Features of Language Regions in Individuals with Tuberous Sclerosis ComplexBanu Ahtam, Hyuk Jin Yun, Rutvi Vyas, et al.Pageof 57