Samantha J Bryen
9PUBLICATIONS
154CO-AUTHORS
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Publications (9)
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|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.Caroline Nava, Benjamin Cogne, Amandine Santini
|Jan 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.Sandra Coppens, Nicolas Deconinck, Patricia Sullivan
|Jun 11, 2024
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.Bianca R Grosz, Jevin M Parmar, Melina Ellis
|Feb 08, 2024
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.Monica H Wojcik, Gabrielle Lemire, Maha S Zaki
|Feb 06, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicing.Ruebena Dawes, Adam M Bournazos, Samantha J Bryen
|May 12, 2021
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.Leigh B Waddell, Samantha J Bryen, Beryl B Cummings
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Frequent Collaborators
5 joint publications
Sandra T Cooper
3 joint publications
Leigh B Waddell
3 joint publications
Adam M Bournazos
2 joint publications
John Christodoulou
2 joint publications
Katrin Õunap
2 joint publications
Nigel Laing
2 joint publications
Daniel G MacArthur
2 joint publications
Gianina Ravenscroft
1 joint publications
Jevin M Parmar
1 joint publications
Andre L M Reis
