Mathew Wallis

Developing best practice rare disease diagnostic care models in a real-world rural/regional setting

The paper identifies challenges in rare disease diagnosis in Tasmania through stakeholder consultations and suggests establishing a Rare Care Centre to improve care.

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses

The paper evaluates the diagnostic effectiveness of genomic sequencing in mitochondrial diseases using blood samples, finding a 55% diagnostic yield with higher rates in pediatric cases.

Untargeted proteomics enables ultra-rapid variant prioritization in mitochondrial and other rare diseases

This study uses untargeted proteomics to rapidly prioritize genetic variants in mitochondrial and other rare diseases, achieving functional evidence for 83% of cases in a cohort.

Bridging the gap: a prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

This study compares short-read and long-read sequencing for diagnosing cerebellar ataxia, finding both effective but with different strengths in repeat expansion detection.

A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing

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

An intronic GAA repeat expansion in FGF14 causes autosomal dominant adult-onset ataxia (SCA50, ATX-FGF14)

This study identifies a novel intronic GAA repeat expansion in FGF14 as a cause of autosomal dominant adult-onset ataxia, with (GAA)>335 being fully penetrant and (GAA)>250 likely pathogenic.

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

This study identifies 18 high-confidence genetic variants in 26% of childhood apraxia of speech cases, expanding the list of candidate genes and highlighting shared pathways with other neurodevelopmental disorders.

Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data

This study uses whole genome sequencing to rapidly diagnose SCA36 in a family, demonstrating the feasibility and cost-effectiveness of WGS for repeat expansion detection.