Kirsty McWalter
22PUBLICATIONS
396CO-AUTHORS
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Publications (22)
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|Feb 16, 2026
Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes.Vincent D Ustach, Maria J Guillen Sacoto, Stephen McGee
|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.Sébastien Küry, Janelle E Stanton, Geeske M van Woerden
|Sep 05, 2025
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.Heidi L Cope, Elizabeth R Jalazo, Jonathan S Berg
|Sep 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.V Kartik Chundru, Zhancheng Zhang, Klaudia Walter
|Sep 19, 2024
Germline mutations in a G protein identify signaling cross-talk in T cells.Hyoungjun Ham, Huie Jing, Ian T Lamborn
|Aug 22, 2024
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.Emily Banks, Vincent Francis, Sheng-Jia Lin
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Frequent Collaborators
4 joint publications
Amber Begtrup
4 joint publications
Sebastien Kury
4 joint publications
Jill A Rosenfeld
3 joint publications
Mathilde Nizon
3 joint publications
Stéphane Bézieau
3 joint publications
Anita Rauch
3 joint publications
Evan E Eichler
3 joint publications
Fowzan S Alkuraya
3 joint publications
Rami Abou Jamra
3 joint publications
John Pappas
