Sanjog R. Chintalaphani
Sydney, NSW, Australia
Last Updated: 09/26/2026
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Found 12 publications
Targeted long-read sequencing enables comprehensive analysis of the genetic and epigenetic landscape of inherited myopathies.
Journal: Nature communications
Published: November 17, 2025
Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.
Journal: Journal of the peripheral nervous system : JPNS
Published: August 04, 2025
Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease.
Journal: The Journal of pathology
Published: July 06, 2025
Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.
Journal: Annals of clinical and translational neurology
Published: December 26, 2024
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Journal: Nature communications
Published: September 29, 2023
Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.
Journal: Brain : a journal of neurology
Published: March 27, 2023
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Journal: Brain communications
Published: February 01, 2023
The landscape of genomic structural variation in Indigenous Australians.
Journal: Nature
Published: January 16, 2023
Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report.
Journal: Neurology. Genetics
Published: September 20, 2022
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.
Journal: Acta neuropathologica communications
Published: March 31, 2021
Showing 1-12 of 12
Last Updated: 09/26/2026