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Nature Reviews. Nephrology|October 24, 2024
A guide to gene-disease relationships in nephrologyZornitza Stark, Alicia B Byrne, Matthew G Sampson, et al.
American Journal of Human Genetics|February 5, 2026
Variant interpretation training for the genomics era: Learning outcomes to inform professional competencies and educationAmy Nisselle, Douglas Liddicoat, Corrina Cliffe, et al.
Orphanet Journal of Rare Diseases|September 9, 2022
The role of exome sequencing in childhood interstitial or diffuse lung diseaseSuzanna E L Temple, Gladys Ho, Bruce Bennetts, et al.
Epilepsia Open|May 4, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severityTrupti Jadhav, Sophie E Bouffler, Emily Innes, et al.
European Journal of Human Genetics : EJHG|February 5, 2025
Utilisation of subsidised genetic and genomic testing in a publicly funded healthcare system 2014-2023Chris Schilling, Florencia Sjaaf, Ilias Goranitis, et al.
American Journal of Medical Genetics. Part A|November 1, 2014
Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutationsLuzie Bülow, Christina Lissewski, Rainer Bressel, et al.
Journal of Clinical Pathology|March 19, 2017
Intratumorous heterogeneity for RAS mutations in a treatment-naïve colorectal tumourSebastian Lunke, Belinda Lee, Sevastjan Kranz, et al.
Children (Basel, Switzerland)|June 28, 2023
Intensive Care Clinicians' Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill InfantsSachini Poogoda, Fiona Lynch, Zornitza Stark, et al.
American Journal of Medical Genetics. Part A|August 17, 2013
5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further casesNatasha Brown, Trent Burgess, Robin Forbes, et al.
European Journal of Human Genetics : EJHG|July 20, 2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysisTiong Yang Tan, Sebastian Lunke, Belinda Chong, et al.
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