Gavin V. Monahan
6 Verdun Street
Nedlands, WA 6009, Australia
Nedlands, WA 6009, Australia
Last Updated: 09/26/2026
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Found 10 publications
Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.
Journal: European journal of human genetics : EJHG
Published: November 03, 2025
Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.
Journal: Annals of neurology
Published: August 25, 2025
A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: March 23, 2025
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
Journal: The Journal of clinical investigation
Published: July 08, 2024
Structural plasticity of the coiled-coil interactions in human SFPQ.
Journal: Nucleic acids research
Published: May 22, 2024
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Journal: Human mutation
Published: January 17, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Journal: Nature communications
Published: September 29, 2023
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Journal: Brain : a journal of neurology
Published: January 11, 2023
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Journal: Human molecular genetics
Published: June 10, 2022
Showing 1-10 of 10
Last Updated: 09/26/2026