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Sarah L Stenton

Showing results (21-30 of 49) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2025
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.
Annals of Neurology|January 30, 2022
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's HospitalSarah L Stenton, Ying Zou, Hua Cheng, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
American Journal of Human Genetics|January 25, 2025
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Nature Genetics|December 6, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Brain : a Journal of Neurology|March 13, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variantBeryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, et al.
Brain : a Journal of Neurology|February 11, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeSarah L Stenton, Marketa Tesarova, Natalia L Sheremet, et al.
Brain : a Journal of Neurology|November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseAlessandro Esposito, Antonio Falace, Matias Wagner, et al.
Brain : a Journal of Neurology|April 30, 2025
Pleiotropic effects of MORC2 derive from its epigenetic signatureFatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, et al.
Pageof 5

Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2025
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.
Annals of Neurology|January 30, 2022
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's HospitalSarah L Stenton, Ying Zou, Hua Cheng, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
American Journal of Human Genetics|January 25, 2025
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
Nature Genetics|December 6, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Biorxiv : the Preprint Server for Biology|March 30, 2023
Inferring compound heterozygosity from large-scale exome sequencing dataMichael H Guo, Laurent C Francioli, Sarah L Stenton, et al.
Brain : a Journal of Neurology|March 13, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variantBeryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, et al.
Brain : a Journal of Neurology|February 11, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeSarah L Stenton, Marketa Tesarova, Natalia L Sheremet, et al.
Brain : a Journal of Neurology|November 6, 2019
Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive courseAlessandro Esposito, Antonio Falace, Matias Wagner, et al.
Brain : a Journal of Neurology|April 30, 2025
Pleiotropic effects of MORC2 derive from its epigenetic signatureFatemeh Peymani, Tomohiro Ebihara, Dmitrii Smirnov, et al.
Pageof 5