Publications by authors named "Riley M McCarty"

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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Riley M McCarty

Brain· September 2025

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Comparative Outcomes Assessment of Velopharyngeal Dysfunction and Oronasal Fistula: Implications of Muscle Repair in Palatoplasty.
David Y Cao, Morgan I Lucero, Jose Lucas Zepeda, Riley M McCarty, Sameer Shakir

J Craniofac Surg· August 2025

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Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
Riley M McCarty, Dimah Saade, Pinki Munot, Chamindra G Laverty, Hailey Pinz

Ann Clin Transl Neurol· March 2025

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A Comparative Assessment of Outcomes Following Mandibular Distraction Osteogenesis and Tongue-Lip Adhesion in Pierre Robin Sequence.
Jeffrey B Ai, Ryan G McQueen, Riley M McCarty, Mukul Sharda, Maie Zagloul

J Craniofac Surg· August 2024

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Optimized allele-specific silencing of the dominant-negative G293R substitution causing collagen VI-related dystrophy.
Astrid Brull, Apurva Sarathy, Véronique Bolduc, Grace S Chen, Riley M McCarty

Mol Ther Nucleic Acids· June 2024

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The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Riley M McCarty

medRxiv· March 2024

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Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
Rocío N Villar-Quiles, Sandra Donkervoort, Alix de Becdelièvre, Corine Gartioux, Valérie Jobic, Riley M McCarty

J Neuromuscul Dis· December 2021

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Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Sandra Donkervoort, Carl E Kutzner, Ying Hu, Xavière Lornage, John Rendu, Riley M McCarty

Am J Hum Genet· December 2020

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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.
Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz, Maha S Zaki, Erik-Jan Kamsteeg, Riley M McCarty

Am J Med Genet A· October 2020

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Daily-life affective instability in emotional distress disorders is associated with function and structure of posterior parietal cortex.
Jessica P Y Hua, Timothy J Trull, Anne M Merrill, Riley M McCarty, Kelsey T Straub

Psychiatry Res Neuroimaging· February 2020

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