Polona Le Quesne Stabej

Auckland, AUK, New Zealand

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 20 publications

Rakeiora Genomics Platform: a pathfinder for genomic medicine research in Aotearoa New Zealand.

Rakeiora Genomics Platform: a pathfinder for genomic medicine research in Aotearoa New Zealand.

Journal: Journal of the Royal Society of New Zealand

Published: August 04, 2025

DMPK 3' untranslated repeat expansions in unexplained sudden cardiac death in the young.

DMPK 3' untranslated repeat expansions in unexplained sudden cardiac death in the young.

Journal: European heart journal

Published: July 23, 2025

Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.

Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand.

Journal: NPJ genomic medicine

Published: June 17, 2024

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Journal: American journal of human genetics

Published: May 03, 2024

Alternative splicing generates isoform diversity in MEN1.

Alternative splicing generates isoform diversity in MEN1.

Journal: Endocrine oncology (Bristol, England)

Published: April 23, 2024

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.

Journal: American journal of human genetics

Published: May 25, 2023

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.

Journal: European journal of human genetics : EJHG

Published: February 02, 2023

Complex Patterns of Genomic Heterogeneity Identified in 42 Tumor Samples and ctDNA of a Pulmonary Atypical Carcinoid Patient.

Complex Patterns of Genomic Heterogeneity Identified in 42 Tumor Samples and ctDNA of a Pulmonary Atypical Carcinoid Patient.

Journal: Cancer research communications

Published: March 07, 2022

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 27, 2021

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.

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

Published: April 10, 2021

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.

Journal: The Journal of clinical endocrinology and metabolism

Published: March 18, 2019

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Journal: American journal of human genetics

Published: September 08, 2018

Showing 1-12 of 20

Last Updated: 09/26/2026