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Brain : a Journal of Neurology|July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain sizeDiana Le Duc, Cecilia Giulivi, Susan M Hiatt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSusan Walker, David J Bunyan, Huw B Thomas, et al.
American Journal of Human Genetics|December 5, 2025
Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxiaJames Fasham, Julia Rankin, Rachel Schot, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|February 13, 2018
The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participantsMiriam S Reuter, Susan Walker, Bhooma Thiruvahindrapuram, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic testAnath C Lionel, Gregory Costain, Nasim Monfared, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathyAdam Jackson, Alexander J M Blakes, Bader Alhaddad, et al.
NPJ Genomic Medicine|October 12, 2019
A large data resource of genomic copy number variation across neurodevelopmental disordersMehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.
JCI Insight|April 10, 2023
Immune profiling of SARS-CoV-2 infection during pregnancy reveals NK cell and γδ T cell perturbationsJennifer R Habel, Brendon Y Chua, Lukasz Kedzierski, et al.
Nature|December 11, 2020
Genetic mechanisms of critical illness in COVID-19Erola Pairo-Castineira, Sara Clohisey, Lucija Klaric, et al.
American Journal of Human Genetics|May 22, 2024
The impact of inversions across 33,924 families with rare disease from a national genome sequencing projectAlistair T Pagnamenta, Jing Yu, Susan Walker, et al.
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