Debra O. Prosser

Auckland, AUK, New Zealand

Last Updated: 09/26/2026

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Found 18 publications

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

Journal: BMC pediatrics

Published: July 01, 2022

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

Journal: Journal of clinical immunology

Published: March 14, 2021

Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants.

Genetic testing in Polynesian long QT syndrome probands reveals a lower diagnostic yield and an increased prevalence of rare variants.

Journal: Heart rhythm

Published: January 15, 2020

Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines.

Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines.

Journal: Sultan Qaboos University medical journal

Published: April 07, 2019

Observations on the Natural History of Camurati-Engelmann Disease.

Observations on the Natural History of Camurati-Engelmann Disease.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: November 02, 2018

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.

Massively Parallel Sequencing of Genes Implicated in Heritable Cardiac Disorders: A Strategy for a Small Diagnostic Laboratory.

Journal: Medical sciences (Basel, Switzerland)

Published: June 28, 2017

Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity.

Splice Site Variants in the KCNQ1 and SCN5A Genes: Transcript Analysis as a Tool in Supporting Pathogenicity.

Journal: Journal of clinical medicine research

Published: December 23, 2016

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.

Journal: Advances in bioinformatics

Published: January 25, 2016

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

Journal: Journal of inherited metabolic disease

Published: August 19, 2015

Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.

Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.

Journal: Journal of pediatric genetics

Published: May 20, 2015

Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene.

Array comparative genomic hybridization identifies a heterozygous deletion of exon 3 of the RYR2 gene.

Journal: Upsala journal of medical sciences

Published: April 04, 2015

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.

Journal: Microarrays (Basel, Switzerland)

Published: January 01, 2015

Showing 1-12 of 18

Last Updated: 09/26/2026