Martin Bruce Delatycki

Frataxin deficiency drives cardiac dysfunction and transcriptional dysregulation in Friedreich ataxia iPSC model

This study uses iPSCs from FRDA patients to model cardiac dysfunction, finding transcriptional dysregulation and phenotypes like increased cell size and mitochondrial stress.

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery

The paper creates a genome-wide map of homozygous deletions in 125,730 individuals, identifying novel rare disease genes and variants.

Duplication within 14q32.13 implicates a chimeric CLMN::SYNE3 RNA transcript in cerebellar ataxia

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.

Friedreich ataxia transcriptomic dysregulation and identification of cell type-specific biomarkers: A systematic review and meta-analysis

This paper identifies cell-type-specific transcriptional biomarkers in Friedreich ataxia through meta-analysis of bulk RNA-seq datasets and develops an interactive transcriptomic atlas.

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.

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.

The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance

The paper identifies a novel FTSJ1 pathogenic variant and shows its role in neuron morphology and learning performance through RiboMethSeq and transcriptome analysis in human and Drosophila models.

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.

The responsiveness of gait and balance outcomes to disease progression in Friedreich ataxia

This study identifies gait and balance measures responsive to change in Friedreich ataxia over 12 months, finding the FARS USS and BBS most responsive across subgroups, with DGI best for children.

A step forward, but still inadequate: Australian health professionals' views on the genetics and life insurance moratorium

The paper surveys Australian health professionals' views on a genetics and life insurance moratorium, finding most believe it is inadequate and advocate for government legislation.

Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype

The paper identifies four psychological endophenotypes of the Broader Autism Phenotype using phenotyping in large multiplex families and shows high sensitivity and specificity for BAP classification.

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.

Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion in RFC1 causes CANVAS

This study validates new bioinformatic tools to identify expanded repeats, discovering a novel intronic pentamer expansion in RFC1 causing CANVAS.

Longitudinal dentate nuclei iron concentration and atrophy in Friedreich ataxia: IMAGE-FRDA

This study tracks iron concentration and atrophy in dentate nuclei of Friedreich ataxia patients over two years, finding increased iron accumulation and stage-dependent changes.

Detecting tandem repeat expansions in cohorts sequenced with short-read sequencing data

The paper introduces exSTRa, a method to detect repeat expansions in WES and WGS data, showing superior performance for WES compared to existing methods.