Susan Walker
12PUBLICATIONS
171CO-AUTHORS
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Publications (12)
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|Mar 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.Adam Jackson, Alexander J M Blakes, Bader Alhaddad
|Nov 27, 2025
Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.Antonio Mollica, Safia Omer, Georgiana Forguson
|Nov 03, 2025
Complex de novo structural variants are an underestimated cause of rare disorders.Hyunchul Jung, Tsun-Po Yang, Susan Walker
|Apr 14, 2025
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency.Alistair T Pagnamenta, Jing Yu, Tracey A Willis
|Jan 06, 2025
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.Bushra Haque, David Cheerie, Amy Pan
|Oct 31, 2024
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice.Ivone U S Leong, Claudia P Cabrera, Valentina Cipriani
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Frequent Collaborators
3 joint publications
Mark J Caulfield
3 joint publications
Matthew Hurles
3 joint publications
Loukas Moutsianas
2 joint publications
Erola Pairo-Castineira
2 joint publications
Lucija Klaric
2 joint publications
Andrew D Bretherick
2 joint publications
Konrad Rawlik
2 joint publications
Jian Yang
2 joint publications
Sean Keating
2 joint publications
Yang Wu
