Estelle Chanudet

Estelle Chanudet

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Estelle Chanudet

Estelle Chanudet

Publications by authors named "Estelle Chanudet"

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23Publications

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Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.

Hum Mol Genet 2019 Aug 22. Epub 2019 Aug 22.

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1093/hmg/ddz203DOI Listing
August 2019

Variability of Sex Disparities in Cancer Incidence over 30 Years: The Striking Case of Kidney Cancer.

Eur Urol Focus 2018 07 31;4(4):586-590. Epub 2017 Jan 31.

Imperial College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.euf.2017.01.006DOI Listing
July 2018

The use of whole-exome sequencing to disentangle complex phenotypes.

Eur J Hum Genet 2016 Feb 10;24(2):298-301. Epub 2015 Jun 10.

Centre for Translational Omics - GOSgene, UCL Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717198PMC
February 2016

Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.

J Clin Immunol 2015 Feb 8;35(2):147-57. Epub 2015 Feb 8.

Molecular and Cellular Immunology Section, Institute of Child Health, University College of London, London, UK,

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http://dx.doi.org/10.1007/s10875-015-0135-7DOI Listing
February 2015

Intellectual disability, unusual facial morphology and hand anomalies in sibs.

Am J Med Genet A 2013 Oct 15;161A(10):2401-6. Epub 2013 Aug 15.

Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.36124
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http://dx.doi.org/10.1002/ajmg.a.36124DOI Listing
October 2013

A20 inactivation in ocular adnexal MALT lymphoma.

Haematologica 2012 Jun 29;97(6):926-30. Epub 2011 Dec 29.

Division of Molecular Histopathology, Department of Pathology, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.

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http://dx.doi.org/10.3324/haematol.2010.036798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366661PMC
June 2012

A20, ABIN-1/2, and CARD11 mutations and their prognostic value in gastrointestinal diffuse large B-cell lymphoma.

Clin Cancer Res 2011 Mar 25;17(6):1440-51. Epub 2011 Jan 25.

Division of Molecular Histopathology, Department of Pathology, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/1078-0432.CCR-10-1859DOI Listing
March 2011

High-throughput screening of enzyme libraries: in vitro evolution of a beta-galactosidase by fluorescence-activated sorting of double emulsions.

Chem Biol 2005 Dec;12(12):1291-300

Medical Research Council, Laboratory of Molecular Biology, Hills Road, Cambridge CB2 2QH, United Kingdom.

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http://dx.doi.org/10.1016/j.chembiol.2005.09.016DOI Listing
December 2005