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Sarah L Stenton

Showing results (11-20 of 49) with videos related to

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Journal of Neurology|May 22, 2024
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patientsElisabetta Indelicato, Lea D Schlieben, Sarah L Stenton, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Ancestry-specific performance of variant effect predictors in clinical variant classificationRachel Hoffing, Daniel Zeiberg, Sarah L Stenton, et al.
HGG Advances|February 22, 2025
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLULElizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, et al.
Human Mutation|December 21, 2020
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significanceSarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, et al.
Biorxiv : the Preprint Server for Biology|June 25, 2024
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation DatabaseSanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Nature Communications|November 1, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation DatabaseSanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Brain : a Journal of Neurology|September 22, 2022
The phenotypic spectrum of COX20-associated mitochondrial disorderRui Ban, Robert Kopajtich, Junlan Lv, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Pageof 5

Showing results (11-20 of 49) with videos related to

Sort By:
Pageof 5
Journal of Neurology|May 22, 2024
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patientsElisabetta Indelicato, Lea D Schlieben, Sarah L Stenton, et al.
Biorxiv : the Preprint Server for Biology|February 27, 2026
Ancestry-specific performance of variant effect predictors in clinical variant classificationRachel Hoffing, Daniel Zeiberg, Sarah L Stenton, et al.
HGG Advances|February 22, 2025
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLULElizabeth Carbonell, Sarah L Stenton, Vijay S Ganesh, et al.
Human Mutation|December 21, 2020
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significanceSarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, et al.
Biorxiv : the Preprint Server for Biology|June 25, 2024
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation DatabaseSanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Nature Communications|November 1, 2025
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation DatabaseSanna Gudmundsson, Moriel Singer-Berk, Sarah L Stenton, et al.
Brain : a Journal of Neurology|September 22, 2022
The phenotypic spectrum of COX20-associated mitochondrial disorderRui Ban, Robert Kopajtich, Junlan Lv, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
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