Nigel G. Laing

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 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.

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.

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.

STRetch detects pathogenic short tandem repeat expansions in whole genome sequencing data, revealing novel disease-causing STRs with low false discovery rate.

This study shows L-tyrosine supplementation does not improve skeletal muscle function in zebrafish and mouse models of nemaline myopathy caused by ACTA1 mutations.

Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.