Beryl Royer-Bertrand

Beryl Royer-Bertrand

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Beryl Royer-Bertrand

Beryl Royer-Bertrand

Publications by authors named "Beryl Royer-Bertrand"

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17Publications

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Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.

BMC Neurol 2020 Jan 13;20(1):17. Epub 2020 Jan 13.

Department woman-mother-child, Unit of Paediatric Neurology and Neurorehabilitation, Lausanne University Hospital (CHUV), Rue du Bugnon 21, 1011, Lausanne, Switzerland.

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http://dx.doi.org/10.1186/s12883-019-1586-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6958716PMC
January 2020

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

Am J Hum Genet 2017 Oct;101(4):623-629

Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, 1011 Lausanne, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 9HN, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173036
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http://dx.doi.org/10.1016/j.ajhg.2017.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630195PMC
October 2017

[Next generation sequencing : a diagnostic tool for inherited immune defects].

Rev Med Suisse 2017 Apr;13(557):763-766

Laboratoire des déficits immunitaires héréditaires, Service d'immunologie et allergie, CHUV et Université de Lausanne, 1011 Lausanne.

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April 2017

UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation.

J Hum Genet 2016 Apr 10;61(4):361-2. Epub 2015 Dec 10.

Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1038/jhg.2015.152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5399153PMC
April 2016

Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer.

Cell Mol Life Sci 2015 Apr 30;72(8):1463-71. Epub 2014 Dec 30.

Department of Medical Genetics, University of Lausanne, Rue Du Bugnon 27, 1005, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00018-014-1807-9DOI Listing
April 2015