Boston Children's Hospital

The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants (2024) Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, et al. Journal article Machine Learning Made Easy (MLme): A comprehensive toolkit for machine learning-driven data analysis (2024) Akshay A, Katoch M, Shekarchizadeh N, Abedi M, Sharma A, Burkhard FC, Adam RM, et al. Journal article BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations (2024) Peron A, D’Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, et al. Journal article Further delineation of the SCAF4-associated neurodevelopmental disorder (2024) Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, et al. Journal article MLcps: machine learning cumulative performance score for classification problems (2023) Akshay A, Abedi M, Shekarchizadeh N, Burkhard FC, Katoch M, Bigger-Allen A, Adam RM, et al. Journal article Automated segmentation of 3D cine cardiovascular magnetic resonance imaging (2023) Tayebi Arasteh S, Romanowicz J, Pace DF, Golland P, Powell AJ, Maier A, Truhn D, et al. Journal article, Original article Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy (2023) Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay EZ, Robert SM, Kiziltug E, Damisah EC, et al. Journal article Clinical Features, Neuropathology, and Surgical Outcome in Patients with Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene (2023) Barba C, Blümcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, et al. Journal article SpheroScan: a user-friendly deep learning tool for spheroid image analysis (2023) Akshay A, Katoch M, Abedi M, Shekarchizadeh N, Besic M, Burkhard FC, Bigger-Allen A, et al. Journal article Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy (2023) Kiryluk K, Sanchez-Rodriguez E, Zhou XJ, Zanoni F, Liu L, Mladkova N, Khan A, et al. Journal article