Baylor College of Medicine

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al. Journal article Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. (2024) Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, et al. Journal article Bosutinib in Resistant and Intolerant Pediatric Patients With Chronic Phase Chronic Myeloid Leukemia: Results From the Phase I Part of Study ITCC054/COG AAML1921. (2024) Brivio E, Pennesi E, Willemse ME, Huitema AD, Jiang Y, Van Tinteren HD, Van Der Velden VH, et al. Journal article ARID1B-related disorder in 87 adults: Natural history and self-sustainability (2024) van der Sluijs PJ, Gösgens M, Dingemans AJ, Striano P, Riva A, Mignot C, Faudet A, 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 De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy. (2023) von Wintzingerode L, Ben-Zeev B, Cesario C, Chan KM, Depienne C, Elpeleg O, Iascone M, et al. Journal article Junctional Ectopic Tachycardia Caused by Junctophilin-2 Expression Silencing Is Selectively Sensitive to Ryanodine Receptor Blockade (2023) Yang Q, Tadros HJ, Sun B, Bidzimou MT, Ezekian JE, Li F, Ludwig 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 Reduction in Junctophilin 2 Expression in Cardiac Nodal Tissue Results in Intracellular Calcium-Driven Increase in Nodal Cell Automaticity. (2023) Landstrom AP, Yang Q, Sun B, Perelli RM, Bidzimou MT, Zhang Z, Aguilar-Sanchez Y, et al. Journal article A comprehensive comparison and evaluation of surgical techniques for anterior shoulder instability: a Bayesian network meta-analysis. (2023) Masud S, Momtaz D, Betsch M, Migliorini F, Ghali A, Popa A, Gouveia K, et al. Journal article, Review article