Leigh B. Waddell

Westmead, NSW, Australia

Last Updated: 09/26/2026

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Found 39 publications

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Journal: Annals of clinical and translational neurology
Published: February 02, 2024

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Journal: Annals of neurology
Published: August 24, 2023

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.

Journal: Human molecular genetics
Published: January 08, 2023

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant.

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant.

Journal: Frontiers in neurology
Published: October 05, 2022

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disorders.

Journal: Clinical genetics
Published: August 31, 2022

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.

Journal: HGG advances
Published: April 20, 2022

A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre.

A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre.

Journal: Neuromuscular disorders : NMD
Published: March 03, 2022

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 02, 2020

Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.

Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.

Journal: Neuropathology and applied neurobiology
Published: May 04, 2020

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.

WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.

Journal: Neurology. Genetics
Published: May 01, 2020

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy.

Journal: European journal of human genetics : EJHG
Published: March 25, 2020

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Journal: Acta neuropathologica
Published: May 06, 2019
Showing 1-12 of 39

Last Updated: 09/26/2026