Gianina Ravenscroft

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

This study uses patient-derived iPSCs to create 2D and 3D muscle models that replicate RYR1 myopathy phenotypes and test therapeutic efficacy.

The paper identifies a chimeric CLMN::SYNE3 RNA transcript from a 14q32.13 duplication as the cause of SCA30, a form of cerebellar ataxia, through RNA-Seq and functional studies.

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

The paper uses long-read sequencing data to analyze STR variability across 2,645 individuals, identifying disease-associated STR loci with elevated allelic variability and introducing the PLVI metric.

The paper develops and validates SMA Finder, a tool to diagnose spinal muscular atrophy in genome, exome, and panel sequencing data, identifying known and novel cases with high accuracy.

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

The paper identifies biallelic variants in ARHGAP19 as a cause of motor-predominant neuropathy with conduction slowing in multiple families.

The paper identifies a deep intronic MME variant causing CMT through aberrant splicing, highlighting the importance of considering deep intronic variants in CMT diagnosis.

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

STRling detects short tandem repeat expansions at known and novel loci using k-mer counting, achieving high sensitivity and base pair accuracy.

The paper identifies a splice-altering variant in KLHL40 causing milder NEM8, showing it leads to reduced mRNA and protein expression through aberrant splicing.

The paper identifies DNAJB4 loss of function variants causing a myopathy with early respiratory failure through exome sequencing and functional studies.

This study develops a programmable nanopore sequencing assay for diagnosing all known pathogenic STRs in a single test, accurately diagnosing 27 patients with neurogenetic disorders.

This study identifies KLHL40 as a negative regulator of ER-Golgi trafficking through ubiquitylation, revealing its role in skeletal muscle development and disease.

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.