Publications by authors named "Beryl B Cummings"


Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child.

Mol Genet Metab 2019 01 11;126(1):77-82. Epub 2018 Dec 11.

Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address:

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January 2019

A quantitative framework for characterizing the evolutionary history of mammalian gene expression.

Genome Res 2019 01 14;29(1):53-63. Epub 2018 Dec 14.

Klarman Cell Observatory, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.

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January 2019

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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June 2018