Jason R. Pinner

Missenden Road
Camperdown, NSW, Australia

Last Updated: 09/26/2026

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Found 39 publications

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Journal: Epilepsia open

Published: October 27, 2025

WWOX-Related Developmental and Epileptic Encephalopathy: Expanding the Clinical Spectrum and Deciphering the Genotype-Phenotype.

WWOX-Related Developmental and Epileptic Encephalopathy: Expanding the Clinical Spectrum and Deciphering the Genotype-Phenotype.

Journal: Neurology

Published: August 28, 2025

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

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

Published: August 07, 2024

Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.

Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.

Journal: American journal of medical genetics. Part A

Published: June 06, 2024

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

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

Published: April 17, 2024

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Journal: Annals of neurology

Published: August 24, 2023

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

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.

Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.

Journal: Frontiers in endocrinology

Published: March 28, 2023

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Journal: Nature medicine

Published: December 15, 2022

Treatment of severe acute necrotizing encephalopathy of childhood with interleukin-6 receptor blockade in the first 24 h as add-on immunotherapy shows favorable long-term outcome at 2 years.

Treatment of severe acute necrotizing encephalopathy of childhood with interleukin-6 receptor blockade in the first 24 h as add-on immunotherapy shows favorable long-term outcome at 2 years.

Journal: Brain & development

Published: October 12, 2022

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

Journal: Epilepsia

Published: August 24, 2022

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.

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

Published: March 19, 2022

Showing 1-12 of 39

Last Updated: 09/26/2026