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Beryl B Cummings

Showing results (11-20 of 39) with videos related to

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Molecular Genetics and Metabolism|December 19, 2018
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a childRocio Rius, Lisa G Riley, Yiran Guo, et al.
Science (New York, N.Y.)|October 12, 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare diseasePejman Mohammadi, Stephane E Castel, Beryl B Cummings, et al.
Nature|May 29, 2020
Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Nature|February 4, 2021
Author Correction: Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Nature|October 13, 2017
Landscape of X chromosome inactivation across human tissuesTaru Tukiainen, Alexandra-Chloé Villani, Angela Yen, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Nature|March 9, 2018
Corrigendum: Landscape of X chromosome inactivation across human tissuesTaru Tukiainen, Alexandra-Chloé Villani, Angela Yen, et al.
Nature|August 3, 2022
Transcriptome variation in human tissues revealed by long-read sequencingDafni A Glinos, Garrett Garborcauskas, Paul Hoffman, et al.
Ebiomedicine|May 13, 2025
An ANGPTL4 inhibitory antibody safely improves lipid profiles in non-human primatesBeryl B Cummings, Page R Bouchard, Mark N Milton, et al.
EMBO Molecular Medicine|November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsySandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
Pageof 4

Showing results (11-20 of 39) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|December 19, 2018
Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a childRocio Rius, Lisa G Riley, Yiran Guo, et al.
Science (New York, N.Y.)|October 12, 2019
Genetic regulatory variation in populations informs transcriptome analysis in rare diseasePejman Mohammadi, Stephane E Castel, Beryl B Cummings, et al.
Nature|May 29, 2020
Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Nature|February 4, 2021
Author Correction: Transcript expression-aware annotation improves rare variant interpretationBeryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, et al.
Nature|October 13, 2017
Landscape of X chromosome inactivation across human tissuesTaru Tukiainen, Alexandra-Chloé Villani, Angela Yen, et al.
Human Mutation|December 22, 2017
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variantSarah A Sandaradura, Adam Bournazos, Amali Mallawaarachchi, et al.
Nature|March 9, 2018
Corrigendum: Landscape of X chromosome inactivation across human tissuesTaru Tukiainen, Alexandra-Chloé Villani, Angela Yen, et al.
Nature|August 3, 2022
Transcriptome variation in human tissues revealed by long-read sequencingDafni A Glinos, Garrett Garborcauskas, Paul Hoffman, et al.
Ebiomedicine|May 13, 2025
An ANGPTL4 inhibitory antibody safely improves lipid profiles in non-human primatesBeryl B Cummings, Page R Bouchard, Mark N Milton, et al.
EMBO Molecular Medicine|November 15, 2021
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsySandra Donkervoort, Niklas Krause, Mykola Dergai, et al.
Pageof 4