Sarah L Stenton
12PUBLICATIONS
243CO-AUTHORS
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Publications (12)
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|Mar 30, 2026
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.Elsa Leitão, Amandine Santini, Benjamin Cogne
|Nov 01, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database.Sanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton
|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
|Sep 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria.Timothy Bergquist, Sarah L Stenton, Emily A W Nadeau
|Sep 06, 2024
First-Tier Next Generation Sequencing for Newborn Screening: An Important Role for Biochemical Second-Tier Testing.Sarah L Stenton, Madelynn Campagna, Anthony Philippakis
|Sep 04, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.Shloka Negi, Sarah L Stenton, Seth I Berger
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Frequent Collaborators
10 joint publications
Anne O'Donnell-Luria
3 joint publications
Tobias Haack
3 joint publications
Elsa Leitão
3 joint publications
Christel Depienne
2 joint publications
Steven M Harrison
2 joint publications
Robert W Taylor
2 joint publications
Emily Nadeau
2 joint publications
Sean V Tavtigian
2 joint publications
Alicia B Byrne
2 joint publications
Vikas Pejaver
