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Beryl B Cummings

Showing results (1-10 of 39) with videos related to

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Diabetes|February 12, 2024
Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic TraitsSaaket Agrawal, Jian'an Luan, Beryl B Cummings, et al.
Genome Research|December 16, 2018
A quantitative framework for characterizing the evolutionary history of mammalian gene expressionJenny Chen, Ross Swofford, Jeremy Johnson, et al.
Human Mutation|February 24, 2017
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeColleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, et al.
Nature Communications|February 3, 2021
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Nature Communications|May 29, 2020
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Nucleic Acids Research|December 1, 2016
The ExAC browser: displaying reference data information from over 60 000 exomesKonrad J Karczewski, Ben Weisburd, Brett Thomas, et al.
Nature|May 29, 2020
Evaluating drug targets through human loss-of-function genetic variationEric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, et al.
European Journal of Human Genetics : EJHG|April 27, 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G Riley, Leigh B Waddell, Roula Ghaoui, et al.
Nature|February 4, 2021
Author Correction: Evaluating drug targets through human loss-of-function genetic variationEric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, et al.
European Journal of Human Genetics : EJHG|August 31, 2020
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathySamantha J Bryen, Emily C Oates, Frances J Evesson, et al.
Pageof 4

Showing results (1-10 of 39) with videos related to

Sort By:
Pageof 4
Diabetes|February 12, 2024
Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic TraitsSaaket Agrawal, Jian'an Luan, Beryl B Cummings, et al.
Genome Research|December 16, 2018
A quantitative framework for characterizing the evolutionary history of mammalian gene expressionJenny Chen, Ross Swofford, Jeremy Johnson, et al.
Human Mutation|February 24, 2017
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz SyndromeColleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, et al.
Nature Communications|February 3, 2021
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Nature Communications|May 29, 2020
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesQingbo Wang, Emma Pierce-Hoffman, Beryl B Cummings, et al.
Nucleic Acids Research|December 1, 2016
The ExAC browser: displaying reference data information from over 60 000 exomesKonrad J Karczewski, Ben Weisburd, Brett Thomas, et al.
Nature|May 29, 2020
Evaluating drug targets through human loss-of-function genetic variationEric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, et al.
European Journal of Human Genetics : EJHG|April 27, 2019
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminLisa G Riley, Leigh B Waddell, Roula Ghaoui, et al.
Nature|February 4, 2021
Author Correction: Evaluating drug targets through human loss-of-function genetic variationEric Vallabh Minikel, Konrad J Karczewski, Hilary C Martin, et al.
European Journal of Human Genetics : EJHG|August 31, 2020
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathySamantha J Bryen, Emily C Oates, Frances J Evesson, et al.
Pageof 4