Hardip R. Patel

131 Garran Rd
Acton, ACT 2601, Australia

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 61 publications

Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.

Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.

Journal: European journal of human genetics : EJHG
Published: November 03, 2025

Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders.

Neurodevelopment Genes Encoding Olduvai Domains Link Myalgic Encephalomyelitis to Neuropsychiatric Disorders.

Journal: Diagnostics (Basel, Switzerland)
Published: June 04, 2025

Targeted sequencing and iterative assembly of near-complete genomes.

Targeted sequencing and iterative assembly of near-complete genomes.

Journal: Nature communications
Published: May 28, 2025

A near telomere-to-telomere phased genome assembly and annotation for the Australian central bearded dragon Pogona vitticeps.

A near telomere-to-telomere phased genome assembly and annotation for the Australian central bearded dragon Pogona vitticeps.

Journal: GigaScience
Published: May 01, 2025

Sex chromosome dosage compensation in a sex reversing skink is not influenced by sexual phenotype.

Sex chromosome dosage compensation in a sex reversing skink is not influenced by sexual phenotype.

Journal: BMC genomics
Published: March 07, 2025

Predictive capacity of paediatric nasal epithelial cells in sequential CFTR modulator therapy.

Predictive capacity of paediatric nasal epithelial cells in sequential CFTR modulator therapy.

Journal: Thorax
Published: February 13, 2025

Transcriptomic signatures of host immune responses in aphthous ulcers, the earliest lesions of Crohn's disease, suggest that bacterial uptake, rather than global dysbiosis, is the initiating factor.

Transcriptomic signatures of host immune responses in aphthous ulcers, the earliest lesions of Crohn's disease, suggest that bacterial uptake, rather than global dysbiosis, is the initiating factor.

Journal: Immunology and cell biology
Published: October 01, 2024

A genome assembly and annotation for the Australian alpine skink Bassiana duperreyi using long-read technologies.

A genome assembly and annotation for the Australian alpine skink Bassiana duperreyi using long-read technologies.

Journal: G3 (Bethesda, Md.)
Published: September 10, 2024

Incomplete transcriptional dosage compensation of chicken and platypus sex chromosomes is balanced by post-transcriptional compensation.

Incomplete transcriptional dosage compensation of chicken and platypus sex chromosomes is balanced by post-transcriptional compensation.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: July 29, 2024

Origin and maintenance of large ribosomal RNA gene repeat size in mammals.

Origin and maintenance of large ribosomal RNA gene repeat size in mammals.

Journal: Genetics
Published: June 14, 2024

Cognitive Function Is Associated with the Genetically Determined Efficiency of DNA Repair Mechanisms.

Cognitive Function Is Associated with the Genetically Determined Efficiency of DNA Repair Mechanisms.

Journal: Genes
Published: November 09, 2023

Identification of the RSX interactome in a marsupial shows functional coherence with the Xist interactome during X inactivation.

Identification of the RSX interactome in a marsupial shows functional coherence with the Xist interactome during X inactivation.

Journal: Genome biology
Published: November 02, 2023
Showing 1-12 of 61

Last Updated: 09/26/2026