Sue Povey

Sue Povey

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Sue Povey

Sue Povey

Publications by authors named "Sue Povey"

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34Publications

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Rare single gene disorders: estimating baseline prevalence and outcomes worldwide.

J Community Genet 2018 Oct 14;9(4):397-406. Epub 2018 Aug 14.

WHO Collaborating Centre for Community Genetics, Centre for Health Informatics and Multi-professional Education (CHIME), University College London, London, UK.

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http://dx.doi.org/10.1007/s12687-018-0376-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167259PMC
October 2018

Persistent severe polyuria after renal transplant.

Clin Kidney J 2016 Apr 20;9(2):180-3. Epub 2015 Oct 20.

Division of Medicine , University College London , London , UK.

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http://dx.doi.org/10.1093/ckj/sfv100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4792610PMC
April 2016

The Human Variome Project: ensuring the quality of DNA variant databases in inherited renal disease.

Pediatr Nephrol 2015 Nov 11;30(11):1893-901. Epub 2014 Nov 11.

Research Department of Genetics, Evolution and Environment, University College London, London, UK.

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http://dx.doi.org/10.1007/s00467-014-2994-1DOI Listing
November 2015

Molecular genetics research in sub-Saharan Africa: how can the international community help?

Hugo J 2014 Dec 17;8(1). Epub 2014 Sep 17.

Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Building 12A, Room 4047, 12 South Drive, MSC 5635, Bethesda, 20892, MD, USA.

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http://dx.doi.org/10.1186/s11568-014-0002-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4685159PMC
December 2014

Mutation databases for inherited renal disease: are they complete, accurate, clinically relevant, and freely available?

Hum Mutat 2014 Jul 3;35(7):791-3. Epub 2014 Jun 3.

Department of Medicine, The University of Melbourne (Northern Health Melbourne Health), Melbourne, Australia.

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http://dx.doi.org/10.1002/humu.22588DOI Listing
July 2014

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.

Nephron Physiol 2012 23;122(1-2):1-6. Epub 2013 Feb 23.

Centre for Nephrology, University College London, London, UK.

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http://dx.doi.org/10.1159/000349989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782194PMC
October 2013

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

The HGNC Database in 2008: a resource for the human genome.

Nucleic Acids Res 2008 Jan 4;36(Database issue):D445-8. Epub 2007 Nov 4.

European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, UK.

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http://dx.doi.org/10.1093/nar/gkm881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2238870PMC
January 2008

A revised nomenclature for the human and rodent alpha-tubulin gene family.

Genomics 2007 Aug 1;90(2):285-9. Epub 2007 Jun 1.

HUGO Gene Nomenclature Committee, Department of Biology, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK.

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http://dx.doi.org/10.1016/j.ygeno.2007.04.008DOI Listing
August 2007

The HUGO Gene Nomenclature Database, 2006 updates.

Nucleic Acids Res 2006 Jan;34(Database issue):D319-21

Department of Biology, HUGO Gene Nomenclature Committee (HGNC), University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK.

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http://dx.doi.org/10.1093/nar/gkj147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1347509PMC
January 2006

HCOP: the HGNC comparison of orthology predictions search tool.

Mamm Genome 2005 Nov 11;16(11):827-8. Epub 2005 Nov 11.

HUGO Gene Nomenclature Committee, The Galton Laboratory, Department of Biology, University College London, Wolfson House, 4, Stephenson Way, London, UK.

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http://dx.doi.org/10.1007/s00335-005-0103-2DOI Listing
November 2005

Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

Hum Mol Genet 2004 Dec 27;13(24):3089-102. Epub 2004 Oct 27.

Department of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EL, UK

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http://dx.doi.org/10.1093/hmg/ddh337DOI Listing
December 2004

Gene map of the extended human MHC.

Nat Rev Genet 2004 Dec;5(12):889-99

Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK.

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http://dx.doi.org/10.1038/nrg1489DOI Listing
December 2004

Genew: the Human Gene Nomenclature Database, 2004 updates.

Nucleic Acids Res 2004 Jan;32(Database issue):D255-7

HUGO Gene Nomenclature Committee (HGNC), Department of Biology, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK.

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http://dx.doi.org/10.1093/nar/gkh072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC308806PMC
January 2004

Human and mouse gene nomenclature.

Curr Protoc Hum Genet 2003 Feb;Appendix 1:Appendix 1C

University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/0471142905.hga01cs35DOI Listing
February 2003

Nonsense-mediated RNA decay in the TSC1 gene suggests a useful tool pre- and post-positional cloning.

Hum Genet 2002 Dec 19;111(6):555-65. Epub 2002 Sep 19.

MRC Human Biochemical Genetics Unit, University College London, UK.

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http://dx.doi.org/10.1007/s00439-002-0821-4DOI Listing
December 2002

Smelling of roses?

Genome Biol 2002 31;3(6):INTERACTIONS1003. Epub 2002 May 31.

HUGO Gene Nomenclature Committee, Department of Biology, University College London, Wolfson House, 4 Stephenson Way, London NW12HE, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC139367PMC
http://dx.doi.org/10.1186/gb-2002-3-6-interactions1003DOI Listing
August 2002

Guidelines for human gene nomenclature.

Genomics 2002 Apr;79(4):464-70

HUGO Gene Nomenclature Committee, The Galton Laboratory, Department of Biology, University College London, Wolfson House, 4, Stephenson Way, London, NW1 2HE, UK.

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http://dx.doi.org/10.1006/geno.2002.6748DOI Listing
April 2002

Genew: the human gene nomenclature database.

Nucleic Acids Res 2002 Jan;30(1):169-71

HUGO Gene Nomenclature Committee (HGNC), Department of Biology, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC99058PMC
http://dx.doi.org/10.1093/nar/30.1.169DOI Listing
January 2002