Publications by authors named "Gavin Monahan"

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Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Natalia Dominik, Stephanie Efthymiou, Christopher J Record, Xinyu Miao, Renee Q Lin, Gavin V Monahan

J Clin Invest· December 2025

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A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.
Gavin Monahan, Jakob Höppner, Harald Jüppner, Audrey Rick, Elyshia McNamara

J Bone Miner Res· October 2025

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An Update on Reported Variants in the Skeletal Muscle -Actin () Gene.
Joshua S Clayton, Mridul Johari, Rhonda L Taylor, Lein Dofash, Georgina Allan, Gavin Monahan

Hum Mutat· April 2025

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Structural plasticity of the coiled-coil interactions in human SFPQ.
Heidar J Koning, Jia Y Lai, Andrew C Marshall, Elke Stroeher, Gavin Monahan

Nucleic Acids Res· January 2025

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Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Gavin Monahan

Nat Commun· October 2024

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A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Andrea Cortese, Sarah J Beecroft, Stefano Facchini, Riccardo Curro, Macarena Cabrera-Serrano, Gavin Monahan

Nat Commun· July 2024

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Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Fabiola Mavillard, Emilia Servian-Morilla, Lein Dofash, Iñigo Rojas-Marcos, Chiara Folland, Gavin Monahan

Brain· December 2023

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A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Lein N H Dofash, Gavin V Monahan, Emilia Servián-Morilla, Eloy Rivas, Fathimath Faiz

Hum Mol Genet· March 2023

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