Nicole Schonrock

Alexandria, NSW 2015, Australia

Last Updated: 09/26/2026

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Found 15 publications

Ensuring equity in reproductive carrier screening of CFTR with increasing population diversity.

Ensuring equity in reproductive carrier screening of CFTR with increasing population diversity.

Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society
Published: December 22, 2025

NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity.

NKX2-5 congenital heart disease mutations show diverse loss and gain of epigenomic, biochemical and chromatin search functions underpinning pathogenicity.

Journal: bioRxiv : the preprint server for biology
Published: June 26, 2025

Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation.

Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation.

Journal: RNA biology
Published: January 27, 2021

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.

Journal: Genome medicine
Published: June 30, 2020

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.

Journal: European journal of human genetics : EJHG
Published: March 31, 2020

Adar3 Is Involved in Learning and Memory in Mice.

Adar3 Is Involved in Learning and Memory in Mice.

Journal: Frontiers in neuroscience
Published: January 22, 2018

Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing.

Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing.

Journal: The Medical journal of Australia
Published: November 30, 2017

The RNA modification landscape in human disease.

The RNA modification landscape in human disease.

Journal: RNA (New York, N.Y.)
Published: September 01, 2017

Analysis of steric effects in DamID profiling of transcription factor target genes.

Analysis of steric effects in DamID profiling of transcription factor target genes.

Journal: Genomics
Published: November 17, 2016

Seq and You Will Find.

Seq and You Will Find.

Journal: Current gene therapy
Published: April 28, 2016

NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets.

NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets.

Journal: eLife
Published: February 10, 2015

Long noncoding RNAs in cardiac development and pathophysiology.

Long noncoding RNAs in cardiac development and pathophysiology.

Journal: Circulation research
Published: October 30, 2012
Showing 1-12 of 15

Last Updated: 09/26/2026