Publications by authors named "Brandon S Stone"

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Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Brandon S Stone

Am J Med Genet A· October 2025

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A Splice-Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder.
Brandon S Stone, Swetha Ramadesikan, Regan McGinley, Scott E Hickey, Leeran B Dublin-Ryan

Am J Med Genet A· October 2025

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Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.
Iftekhar A Showpnil, Maria E Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Brandon S Stone

NPJ Genom Med· December 2024

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-related disorder: phenotypic and molecular spectrum.
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Brandon S Stone

J Med Genet· October 2023

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