Mark F. Bennett

245 Burgundy Street
Heidelberg, VIC 3084, Australia

Last Updated: 09/26/2026

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Found 57 publications

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: May 07, 2026

A computational model for quantifying instability of tandem repeats across the genome.

A computational model for quantifying instability of tandem repeats across the genome.

Journal: bioRxiv : the preprint server for biology

Published: April 17, 2026

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Journal: medRxiv : the preprint server for health sciences

Published: December 03, 2025

Defining a tandem repeat catalog and variation clusters for genome-wide analyses.

Defining a tandem repeat catalog and variation clusters for genome-wide analyses.

Journal: bioRxiv : the preprint server for biology

Published: November 24, 2025

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.

Journal: Progress in neuro-psychopharmacology & biological psychiatry

Published: November 23, 2025

Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases.

Defining a tandem repeat catalog and variation clusters for genome-wide analyses and population databases.

Journal: American journal of human genetics

Published: September 27, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.

Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.

Journal: Annals of neurology

Published: May 21, 2025

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Journal: Brain communications

Published: January 19, 2025

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.

Journal: NAR genomics and bioinformatics

Published: November 20, 2024

Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.

Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.

Journal: Human molecular genetics

Published: October 10, 2024

Showing 1-12 of 57

Last Updated: 09/26/2026