Sue Richards

Sue Richards

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Sue Richards

Publications by authors named "Sue Richards"

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Response to Biesecker and Harrison.

Genet Med 2018 12;20(12):1689-1690

Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2018.43DOI Listing
December 2018

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 12 5;20(12):1489-1498. Epub 2018 Oct 5.

Knight Diagnostic Laboratories, Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.

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http://www.nature.com/articles/s41436-018-0322-z
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http://dx.doi.org/10.1038/s41436-018-0322-zDOI Listing
December 2018

Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.

Genet Med 2016 12 2;18(12):1290-1294. Epub 2016 Jun 2.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1038/gim.2016.59DOI Listing
December 2016

Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.

Genet Med 2015 Mar 31;17(3):219-25. Epub 2014 Jul 31.

Department of Pathology and Laboratory Medicine, Women & Infants Hospital, Alpert Medical School, Brown University, Providence, Rhode Island, USA.

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http://dx.doi.org/10.1038/gim.2014.93DOI Listing
March 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.

Genet Med 2014 Jan 23;16(1):25-32. Epub 2013 May 23.

Detroit Medical Center and Departments of Pathology and Pediatrics and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, Michigan, USA.

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http://dx.doi.org/10.1038/gim.2013.65DOI Listing
January 2014

Risk-directed treatment intensification significantly reduces the risk of relapse among children and adolescents with acute lymphoblastic leukemia and intrachromosomal amplification of chromosome 21: a comparison of the MRC ALL97/99 and UKALL2003 trials.

J Clin Oncol 2013 Sep 12;31(27):3389-96. Epub 2013 Aug 12.

Anthony V. Moorman, Hazel Robinson, Claire Schwab, and Christine J. Harrison, Leukaemia Research Cytogenetics Group, Northern Institute for Cancer Research, Newcastle University, Newcastle; Sue M. Richards, University of Oxford; Christopher D. Mitchell, John Radcliffe Hospital, Oxford; Jeremy Hancock, Bristol Genetics Laboratory, North Bristol National Health Service Trust, Bristol; Nicholas Goulden, Great Ormond Street Hospital, London; and Ajay Vora, Sheffield Children's Hospital, Sheffield, United Kingdom.

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http://dx.doi.org/10.1200/JCO.2013.48.9377DOI Listing
September 2013

Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics.

Arch Pathol Lab Med 2013 Jul;137(7):983-8

Laboratory Research and Evaluation Branch, Division of Laboratory Science and Standards, Office of Surveillance, Epidemiology, and Laboratory Services, Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA.

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http://dx.doi.org/10.5858/arpa.2012-0311-RADOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4684176PMC
July 2013

ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions.

Genet Med 2013 Apr 24;15(4):314-5. Epub 2013 Jan 24.

Department of Medical Genetics, Henry Ford Health System, Detroit, Michigan, USA.

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http://dx.doi.org/10.1038/gim.2012.178DOI Listing
April 2013

A proposal for reducing the effect of one of many causes of publication bias.

Trials 2013 Feb 12;14:41. Epub 2013 Feb 12.

Clinical Trial Service Unit, Richard Doll Building, Old Road Campus, Roosevelt Drive, Oxford OX3 7LF, UK.

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http://dx.doi.org/10.1186/1745-6215-14-41DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598957PMC
February 2013

Quality of life in chronic lymphocytic leukemia: 5-year results from the multicenter randomized LRF CLL4 trial.

Leuk Lymphoma 2012 Jul 1;53(7):1289-98. Epub 2012 Mar 1.

Haemato-Oncology Research Unit, Division of Molecular Pathology, The Institute of Cancer Research, Sutton, UK.

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http://dx.doi.org/10.3109/10428194.2011.649479DOI Listing
July 2012

Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey.

Genet Med 2012 Jan 26;14(1):69-75. Epub 2011 Sep 26.

Department of Pathology and Laboratory Medicine, Women & Infants Hospital and the Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA.

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http://dx.doi.org/10.1038/gim.0b013e3182310bb5DOI Listing
January 2012

Therapeutic interventions for Burkitt lymphoma in children.

Cochrane Database Syst Rev 2011 Jul 6(7):CD005198. Epub 2011 Jul 6.

Medical Research Council Unit, P.O. Box 273, Banjul, Gambia.

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http://dx.doi.org/10.1002/14651858.CD005198.pub3DOI Listing
July 2011

A comparison of the efficacy and safety of oral and intravenous fludarabine in chronic lymphocytic leukemia in the LRF CLL4 trial.

Cancer 2011 Jun 14;117(11):2452-60. Epub 2010 Dec 14.

Section of Haemato-Oncology, The Royal Marsden Hospital and The Institute of Cancer Research, Sutton, UK.

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http://doi.wiley.com/10.1002/cncr.25776
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http://dx.doi.org/10.1002/cncr.25776DOI Listing
June 2011

Chlorambucil--still not bad: a reappraisal.

Clin Lymphoma Myeloma Leuk 2011 Jun 6;11 Suppl 1:S2-6. Epub 2011 May 6.

Section of Haemato-Oncology, The Institute of Cancer Research, Sutton, United Kingdom.

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http://dx.doi.org/10.1016/j.clml.2011.02.006DOI Listing
June 2011

Quality assurance and quality improvement in U.S. clinical molecular genetic laboratories.

Curr Protoc Hum Genet 2011 Apr;Chapter 9:Unit9.2

Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1002/0471142905.hg0902s69DOI Listing
April 2011

Asparaginase-related venous thrombosis in UKALL 2003- re-exposure to asparaginase is feasible and safe.

Br J Haematol 2010 May 10;149(3):410-3. Epub 2010 Mar 10.

Department of Haematology, Children's Hospital, The John Radcliffe, Oxford, UK.

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http://dx.doi.org/10.1111/j.1365-2141.2010.08132.xDOI Listing
May 2010

Prognostic effect of chromosomal abnormalities in childhood B-cell precursor acute lymphoblastic leukaemia: results from the UK Medical Research Council ALL97/99 randomised trial.

Lancet Oncol 2010 May 19;11(5):429-38. Epub 2010 Apr 19.

Leukaemia Research Cytogenetics Group, Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/S1470-2045(10)70066-8DOI Listing
May 2010

Cytogenetics of long-term survivors of ETV6-RUNX1 fusion positive acute lymphoblastic leukemia.

Genes Chromosomes Cancer 2010 Mar;49(3):253-9

Leukaemia Research Cytogenetics Group, Cancer Sciences Division, University of Southampton, Southampton, UK.

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http://dx.doi.org/10.1002/gcc.20736DOI Listing
March 2010

Relationship between HLA-DP supertype and survival in childhood acute lymphoblastic leukaemia: evidence for selective loss of immunological control of residual disease?

Br J Haematol 2009 Apr 16;145(1):87-95. Epub 2009 Jan 16.

Cancer Immunogenetics, School of Cancer Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1111/j.1365-2141.2008.07571.xDOI Listing
April 2009

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

Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

Genet Med 2009 Mar;11(3):183-92

Department of Molecular and Medical Genetics, Clinical Genetics Laboratories, Oregon Health & Science University, 3181 S.W. Sam Jackson Park Road, Portland, OR 97239, USA.

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http://dx.doi.org/10.1097/GIM.0b013e318193ba67DOI Listing
March 2009

Patients' experience of chronic lymphocytic leukaemia: baseline health-related quality of life results from the LRF CLL4 trial.

Br J Haematol 2008 Dec 18;143(5):690-7. Epub 2008 Oct 18.

Section of Haemato-Oncology, The Institute of Cancer Research, Sutton, Surrey, UK.

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http://dx.doi.org/10.1111/j.1365-2141.2008.07407.xDOI Listing
December 2008

New quality assurance standards for rare disease testing.

Genet Med 2008 May;10(5):320-4

Department of Pathology and Laboratory Medicine, UCLA School of Medicine, Los Angeles, California 90095-1732, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31817283baDOI Listing
May 2008

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Genet Med 2008 Apr;10(4):294-300

Department of Molecular and Medical Genetics, Oregon Health Science University, Portland, Oregon 97239, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31816b5caeDOI Listing
April 2008

A comparative study of five technologically diverse CFTR testing platforms.

J Mol Diagn 2007 Jul;9(3):401-7

Department of Molecular and Medical Genetics, Molecular Diagnostic Center, Oregon Health and Science University, Portland, OR, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1899413PMC
http://dx.doi.org/10.2353/jmoldx.2007.060163DOI Listing
July 2007

Omission of evidence from review on prophylaxis of fungal infections.

Authors:
Sue Richards

Eur J Haematol 2007 Jun 5;78(6):546; author reply 546. Epub 2007 Apr 5.

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http://dx.doi.org/10.1111/j.1600-0609.2007.00860.xDOI Listing
June 2007

Adolescents with acute lymphoblastic leukaemia: outcome on UK national paediatric (ALL97) and adult (UKALLXII/E2993) trials.

Pediatr Blood Cancer 2007 Mar;48(3):254-61

Department of Molecular Haematology, Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1002/pbc.20749DOI Listing
March 2007

Adolescents with acute lymphoblastic leukaemia: emerging from the shadow of paediatric and adult treatment protocols.

Pediatr Blood Cancer 2006 Nov;47(6):748-56

Department of Molecular Haematology, Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/pbc.20776DOI Listing
November 2006

Single-agent purine analogues for the treatment of chronic lymphocytic leukaemia: a systematic review and meta-analysis.

Cancer Treat Rev 2006 Aug 21;32(5):377-89. Epub 2006 Jun 21.

Innsbruck Medical University, Division of Hematology and Oncology, Anichstrasse 35, A-6020 Innsbruck, Austria.

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http://dx.doi.org/10.1016/j.ctrv.2006.05.002DOI Listing
August 2006

Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).

Hum Genet 2006 Jul;119(6):679

Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland 97239, USA.

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July 2006

Microelectronic array system for molecular diagnostic genotyping: Nanogen NanoChip 400 and molecular biology workstation.

Expert Rev Mol Diagn 2006 May;6(3):287-94

University of California Los Angeles, Center for Neurobehavioral Genetics, 965 Charles E Young Dr. South, Gonda 3554, Los Angeles, CA 90095, USA.

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http://dx.doi.org/10.1586/14737159.6.3.287DOI Listing
May 2006

Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation.

Arch Pathol Lab Med 2005 Nov;129(11):1401-4

Department of Pathology and Laboratory Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA 15232, USA.

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http://dx.doi.org/10.1043/1543-2165(2005)129[1401:AFAPAC]2.0.CO;2DOI Listing
November 2005

A homozygous mutation in MSH6 causes Turcot syndrome.

Clin Cancer Res 2005 Jul;11(13):4689-93

Diagnostic Sequencing Laboratory, Department of Molecular and Human Genetics and Texas Children's Cancer Center, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1158/1078-0432.CCR-04-2025DOI Listing
July 2005

Fludarabine increases complete response but not survival compared with conventional alkylator-based regimens for previously untreated chronic lymphocytic leukaemia.

Authors:
Sue Richards

Cancer Treat Rev 2005 Jun;31(4):332-5

CTSU, Radcliffe Infirmary, Oxford University, Harkness Building, Oxford OX2 6HE, UK.

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http://dx.doi.org/10.1016/j.ctrv.2005.04.002DOI Listing
June 2005

ETV6/RUNX1 fusion at diagnosis and relapse: some prognostic indications.

Genes Chromosomes Cancer 2005 May;43(1):54-71

LRF Cytogenetics Group, Cancer Sciences Division, University of Southampton, United Kingdom.

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http://dx.doi.org/10.1002/gcc.20158DOI Listing
May 2005

Treatment of CML using IFN-alpha: impact on quality of life.

Hematol J 2003 ;4(4):253-62

Department of Epidemiology, Institute of Cancer Research, Sutton, Surrey, UK.

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http://www.nature.com/doifinder/10.1038/sj.thj.6200251
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http://dx.doi.org/10.1038/sj.thj.6200251DOI Listing
April 2004

Outcome heterogeneity in childhood high-hyperdiploid acute lymphoblastic leukemia.

Blood 2003 Oct 26;102(8):2756-62. Epub 2003 Jun 26.

Leukaemia Research Fund Cytogenetics Group, Cancer Sciences Division, University of Southampton, MP 822, Duthie Bldg, Southampton General Hospital, Southampton, SO16 6YD, United Kingdom.

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http://www.bloodjournal.org/content/102/8/2756.full.pdf
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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2003-04-11
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http://dx.doi.org/10.1182/blood-2003-04-1128DOI Listing
October 2003

Analytic validity of cystic fibrosis testing: a preliminary estimate.

Genet Med 2003 Jan-Feb;5(1):15-20

Foundation for Blood Research, Scarborough, Maine 04070-0190, USA.

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http://dx.doi.org/10.1097/00125817-200301000-00003DOI Listing
August 2003

Alternative approaches to proficiency testing in molecular genetics.

Clin Chem 2003 May;49(5):717-8

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http://dx.doi.org/10.1373/49.5.717DOI Listing
May 2003

Oral amoxicillin for childhood pneumonia.

Authors:
Sue Richards

Lancet 2003 Jan;361(9351):76; author reply 76-7

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http://dx.doi.org/10.1016/S0140-6736(03)12133-2DOI Listing
January 2003