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List of works by Gianina Ravenscroft

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy

scientific article published on 16 March 2020

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

scientific article published on 13 December 2018

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing

scientific article published on 04 March 2022

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

scientific article published on 15 October 2020

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders

scientific article published on 30 September 2020

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction

scientific article published on 21 May 2018

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations ⬇️

scientific article published on December 3, 2012

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