Frances Elmslie
4PUBLICATIONS
141CO-AUTHORS
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Publications (4)
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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
|Jul 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.Yuyang Chen, Ruebena Dawes, Hyung Chul Kim
|Mar 10, 2023
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara
|Feb 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.Sandra Whalen, Marie Shaw, Cyril Mignot
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Frequent Collaborators
2 joint publications
Rocio Rius
2 joint publications
Cas Simons
2 joint publications
Jenny Lord
2 joint publications
Susan Walker
2 joint publications
Siddharth Banka
1 joint publications
Alessandro Mauro Spinelli
1 joint publications
Manoëlle Kossorotoff
1 joint publications
Jessica N Hartley
1 joint publications
Patrick Frosk
1 joint publications
Jozef Gecz
