Sarah Taylor-Josephi

Fisher Road
Camperdown, NSW 2006, Australia

Last Updated: 09/26/2026

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Found 20 publications

Targeted Anti-IL-1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L-Related Arrhythmogenic Cardiomyopathy.

Targeted Anti-IL-1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L-Related Arrhythmogenic Cardiomyopathy.

Journal: American journal of medical genetics. Part A

Published: January 29, 2026

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Integrated germline and somatic molecular profiling to detect cancer predisposition has a high clinical impact in poor-prognosis paediatric cancer.

Integrated germline and somatic molecular profiling to detect cancer predisposition has a high clinical impact in poor-prognosis paediatric cancer.

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Published: October 08, 2025

Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.

Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Published: October 08, 2025

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

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

Published: September 15, 2025

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians.

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians.

Journal: Journal of paediatrics and child health

Published: July 20, 2025

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Journal: Human molecular genetics

Published: June 10, 2025

Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.

Author Correction: Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.

Journal: NPJ genomic medicine

Published: March 25, 2025

Harnessing liquid biopsy to unveil RAS-MEK pathway somatic pathogenic variants in extracranial arterio-venous malformations.

Harnessing liquid biopsy to unveil RAS-MEK pathway somatic pathogenic variants in extracranial arterio-venous malformations.

Journal: Communications medicine

Published: September 04, 2024

Navigating an Uninformative Genomic Test Result: A Practical Guide.

Navigating an Uninformative Genomic Test Result: A Practical Guide.

Journal: Journal of paediatrics and child health

Published: June 06, 2024

Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.

Returning raw genomic data to research participants in a pediatric cancer precision medicine trial.

Journal: NPJ genomic medicine

Published: May 02, 2024

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Journal: American journal of human genetics

Published: March 18, 2024

Showing 1-12 of 20

Last Updated: 09/26/2026