Katherine J. Holman

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 11 publications

Saliva DNA: An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism.

Saliva DNA: An alternative biospecimen for single nucleotide polymorphism chromosomal microarray analysis in autism.

Journal: American journal of medical genetics. Part A

Published: July 16, 2023

Genome sequencing in congenital cataracts improves diagnostic yield.

Genome sequencing in congenital cataracts improves diagnostic yield.

Journal: Human mutation

Published: December 22, 2020

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation.

Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation.

Journal: Kidney medicine

Published: August 01, 2020

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.

Journal: NPJ genomic medicine

Published: April 09, 2020

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 30, 2020

Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants.

Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants.

Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation

Published: February 11, 2019

CFHR5 Nephropathy in a Greek-Cypriot Australian Family: Ancestry-Informed Precision Medicine.

CFHR5 Nephropathy in a Greek-Cypriot Australian Family: Ancestry-Informed Precision Medicine.

Journal: Kidney international reports

Published: September 11, 2018

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms.

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms.

Journal: American journal of human genetics

Published: December 21, 2017

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Journal: Seizure

Published: August 25, 2017

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Journal: Kidney international

Published: November 01, 2016

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Journal: Human mutation

Published: September 17, 2015

Showing 1-11 of 11

Last Updated: 09/26/2026