Emma I. Krzesinski

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 15 publications

Scaling up Genomics: A Mainstream Model of Care in Nephrology.

Scaling up Genomics: A Mainstream Model of Care in Nephrology.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: March 20, 2026

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Journal: Human genomics

Published: September 10, 2025

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

Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.

Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.

Journal: Kidney international reports

Published: March 01, 2024

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Journal: Orphanet journal of rare diseases

Published: August 09, 2023

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

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

Published: June 30, 2023

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.

Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.

Journal: European journal of human genetics : EJHG

Published: September 07, 2022

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease.

Journal: Human molecular genetics

Published: June 24, 2022

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

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

Published: March 24, 2021

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.

Journal: Journal of the neurological sciences

Published: September 01, 2020

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

Journal: JAMA

Published: June 24, 2020

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.

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

Published: April 12, 2020

Showing 1-12 of 15

Last Updated: 09/26/2026