Publications by authors named "Estelle Chanudet"

23Publications

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

Hum Mol Genet 2019 10;28(20):3466-3474

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
October 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