Katie A. Ashton

New Lambton Heights
Callaghan, NSW, Australia

Last Updated: 09/26/2026

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Found 28 publications

Intellectual disability, neuroregression and adult-onset progressive dystonia due to a DLG4 pathogenic variant.

Intellectual disability, neuroregression and adult-onset progressive dystonia due to a DLG4 pathogenic variant.

Journal: Parkinsonism & related disorders

Published: May 18, 2026

Adult-Onset Hereditary Thrombotic Thrombocytopenic Purpura Presenting as Kidney Failure: A Heterozygous ADAMTS13 Variant and Possible Modifying Polymorphisms.

Adult-Onset Hereditary Thrombotic Thrombocytopenic Purpura Presenting as Kidney Failure: A Heterozygous ADAMTS13 Variant and Possible Modifying Polymorphisms.

Journal: Kidney360

Published: April 07, 2026

Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing.

Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing.

Journal: Journal of medical genetics

Published: January 29, 2026

Next-generation karyotyping using optical genome mapping: a comparative study of genomic changes in haematological malignancies.

Next-generation karyotyping using optical genome mapping: a comparative study of genomic changes in haematological malignancies.

Journal: Pathology

Published: August 26, 2024

Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.

Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.

Journal: Genetics in medicine open

Published: June 20, 2024

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: July 13, 2023

Atypical presentation of cerebriform intradermal naevus causing cutis verticis gyrata.

Atypical presentation of cerebriform intradermal naevus causing cutis verticis gyrata.

Journal: ANZ journal of surgery

Published: January 18, 2023

Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer.

Mendelian randomization analyses suggest a role for cholesterol in the development of endometrial cancer.

Journal: International journal of cancer

Published: December 03, 2019

Identification of nine new susceptibility loci for endometrial cancer.

Identification of nine new susceptibility loci for endometrial cancer.

Journal: Nature communications

Published: December 25, 2017

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

Journal: Cancer medicine

Published: October 09, 2017

Repair of UVB-induced DNA damage is reduced in melanoma due to low XPC and global genome repair.

Repair of UVB-induced DNA damage is reduced in melanoma due to low XPC and global genome repair.

Journal: Oncotarget

Published: July 02, 2016

Renin-angiotensin system gene polymorphisms and endometrial cancer.

Renin-angiotensin system gene polymorphisms and endometrial cancer.

Journal: Endocrine connections

Published: March 23, 2016

Showing 1-12 of 28

Last Updated: 09/26/2026