Gianina Ravenscroft

6 Verdun Street
Nedlands, WA 6009, Australia

Last Updated: 09/26/2026

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Found 141 publications

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Journal: medRxiv : the preprint server for health sciences

Published: July 03, 2026

Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.

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.

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Journal: Annals of neurology

Published: August 25, 2025

A comprehensive framework for the interpretation of TTN missense variants.

A comprehensive framework for the interpretation of TTN missense variants.

Journal: Genome medicine

Published: July 17, 2025

Missense variants in TUBA4A cause myo-tubulinopathies.

Missense variants in TUBA4A cause myo-tubulinopathies.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Missense variants in TUBA4A cause myo-tubulinopathies.

Missense variants in TUBA4A cause myo-tubulinopathies.

Journal: Brain : a journal of neurology

Published: June 26, 2025

Current understanding of skeletal muscle repeat expansion disorders.

Current understanding of skeletal muscle repeat expansion disorders.

Journal: Current opinion in neurology

Published: June 09, 2025

The evolving genetic landscape of neuromuscular fetal akinesias.

The evolving genetic landscape of neuromuscular fetal akinesias.

Journal: Journal of neuromuscular diseases

Published: May 13, 2025

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features.

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features.

Journal: Annals of clinical and translational neurology

Published: April 22, 2025

Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with RFC1 expansions.

Nerve ultrasound, neuronopathy and cough predict sensory neuropathy patients with RFC1 expansions.

Journal: Brain communications

Published: April 08, 2025

A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.

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

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy.

Journal: Human molecular genetics

Published: March 14, 2025

Showing 1-12 of 141

Last Updated: 09/26/2026