Publications by authors named "Helen Firth"

97Publications

Primary Pneumococcal Peritonitis can be the first presentation of a familial complement factor I deficiency.

Clin Exp Immunol 2020 Jul 8. Epub 2020 Jul 8.

Department of Infectious Diseases, Cambridge University Hospital NHS Trust, Cambridge, UK.

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http://dx.doi.org/10.1111/cei.13490DOI Listing
July 2020

Genomically Aided Diagnosis of Severe Developmental Disorders.

Annu Rev Genomics Hum Genet 2020 Aug 18;21:327-349. Epub 2020 May 18.

Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge CB2 0QQ, United Kingdom; email:

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http://dx.doi.org/10.1146/annurev-genom-120919-082329DOI Listing
August 2020

ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.

Clin Immunol 2020 Jun 27;215:108443. Epub 2020 Apr 27.

Medical Research Council Toxicology Unit, University of Cambridge, Cambridge, United Kingdom; Department of Immunology, Addenbrooke's Hospital, Cambridge University Hospitals NHS Trust, Cambridge, United Kingdom; Department of Medicine, University of Cambridge, Cambridge, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2020.108443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7306156PMC
June 2020

Genomic variant sharing: a position statement.

Wellcome Open Res 2019 5;4:22. Epub 2019 Feb 5.

Department of Clinical Genetics, University of Cambridge Addenbrooke's Hospital Cambridge, Cambridge, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.15090.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913213PMC
February 2019

Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare.

Clin Med (Lond) 2019 07;19(4):269-272

St George's University Hospitals NHS Foundation Trust, London, UK and professor in clinical genetics and genomic education, St George's, University of London, London, UK and Joint Committee on Genomics in Medicine, Royal College of Physicians, London, UK

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http://dx.doi.org/10.7861/clinmedicine.19-4-269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752247PMC
July 2019

Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations.

J Invest Dermatol 2019 10 22;139(10):2238-2241.e6. Epub 2019 May 22.

Academic Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom; East Anglian Medical Genetics Service, Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2019.03.1151DOI Listing
October 2019

Paediatric genomics: diagnosing rare disease in children.

Nat Rev Genet 2018 05 19;19(5):325. Epub 2018 Feb 19.

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http://dx.doi.org/10.1038/nrg.2018.12DOI Listing
May 2018

Paediatric genomics: diagnosing rare disease in children.

Nat Rev Genet 2018 05 5;19(5):253-268. Epub 2018 Feb 5.

Cambridge University Hospitals National Health Service Foundation Trust, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0QQ, UK.

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http://dx.doi.org/10.1038/nrg.2017.116DOI Listing
May 2018

Returning genome sequences to research participants: Policy and practice.

Wellcome Open Res 2017 Feb 24;2:15. Epub 2017 Feb 24.

The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, OX3 7LF, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.10942.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351846PMC
February 2017

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.

Nat Rev Endocrinol 2017 04 18;13(4):233-247. Epub 2016 Nov 18.

Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), 7703 Floyd Curl Drive, MC7880, San Antonio, Texas 78229, USA.

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http://dx.doi.org/10.1038/nrendo.2016.185DOI Listing
April 2017

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Nat Genet 2016 09 1;48(9):1060-5. Epub 2016 Aug 1.

Wellcome Trust Sanger Institute, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5988037PMC
September 2016

Principle of proportionality in genomic data sharing.

Nat Rev Genet 2016 01 23;17(1):1-2. Epub 2015 Nov 23.

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

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http://dx.doi.org/10.1038/nrg.2015.5DOI Listing
January 2016

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER.

Hum Mutat 2015 Oct 20;36(10):941-9. Epub 2015 Aug 20.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, United Kingdom.

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http://dx.doi.org/10.1002/humu.22842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832335PMC
October 2015

Potential research participants support the return of raw sequence data.

J Med Genet 2015 Aug 20;52(8):571-4. Epub 2015 May 20.

Nuffield Department of Population Health, The Ethox Centre, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4518751PMC
August 2015

No expectation to share incidental findings in genomic research.

Lancet 2015 Apr 17;385(9975):1289-90. Epub 2014 Dec 17.

The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1016/S0140-6736(14)62119-XDOI Listing
April 2015

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Eur J Med Genet 2014 Oct 3;57(10):587-95. Epub 2014 Sep 3.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Southeast Scotland Clinical Genetics Services, Western General Hospital, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.08.007DOI Listing
October 2014

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Policy challenges of clinical genome sequencing.

BMJ 2013 Nov 22;347:f6845. Epub 2013 Nov 22.

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

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http://dx.doi.org/10.1136/bmj.f6845DOI Listing
November 2013

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.

Nucleic Acids Res 2014 Jan 22;42(Database issue):D993-D1000. Epub 2013 Oct 22.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, UK and Cambridge University Department of Medical Genetics, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkt937DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965078PMC
January 2014

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy.

Am J Med Genet A 2013 Jul 17;161A(7):1690-4. Epub 2013 May 17.

Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.35935DOI Listing
July 2013

Isolated hypoglossal schwannoma in a 9-year-old child.

J Neurosurg Pediatr 2012 Aug 22;10(2):130-3. Epub 2012 Jun 22.

Department of Neurosurgery, Addenbrooke's Hospital, University of Cambridge, United Kingdom.

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https://thejns.org/view/journals/j-neurosurg-pediatr/10/2/ar
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http://dx.doi.org/10.3171/2012.3.PEDS11555DOI Listing
August 2012

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Am J Med Genet A 2012 May 11;158A(5):1102-10. Epub 2012 Apr 11.

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.35296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495255PMC
May 2012

Interpretation of genomic copy number variants using DECIPHER.

Curr Protoc Hum Genet 2012 Jan;Chapter 8:Unit 8.14

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom.

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http://doi.wiley.com/10.1002/0471142905.hg0814s72
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http://dx.doi.org/10.1002/0471142905.hg0814s72DOI Listing
January 2012

The Deciphering Developmental Disorders (DDD) study.

Dev Med Child Neurol 2011 Aug 17;53(8):702-3. Epub 2011 Jun 17.

Department of Medical Genetics, Cambridge University Hospitals Foundation Trust, Cambridge, UK.

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http://doi.wiley.com/10.1111/j.1469-8749.2011.04032.x
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http://dx.doi.org/10.1111/j.1469-8749.2011.04032.xDOI Listing
August 2011

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

Am J Hum Genet 2009 Apr 2;84(4):524-33. Epub 2009 Apr 2.

Cambridge University Department of Medical Genetics, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.

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http://dx.doi.org/10.1016/j.ajhg.2009.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2667985PMC
April 2009

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Syndromic associations with congenital anomalies of the fetal thorax and abdomen.

Prenat Diagn 2008 Jul;28(7):676-84

Oxford Radcliffe Hospitals NHS Trust, Oxford, UK.

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http://dx.doi.org/10.1002/pd.2023DOI Listing
July 2008

Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance.

Am J Med Genet A 2007 Sep;143A(17):2024-8

Department of Medical Genetics, Addenbrooke's Hospital NHS Trust, Cambridge, UK.

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http://dx.doi.org/10.1002/ajmg.a.31857DOI Listing
September 2007

Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound.

Prenat Diagn 2007 Jun;27(6):566-7

Department of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1002/pd.1727DOI Listing
June 2007

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Am J Med Genet A 2006 Nov;140(22):2454-63

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030-3498, USA.

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http://dx.doi.org/10.1002/ajmg.a.31510DOI Listing
November 2006

Skeletal dysplasias.

Semin Fetal Neonatal Med 2005 Jun;10(3):233-41

Oxford Radcliffe Hospitals, Oxford OX3 7LJ, UK.

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http://dx.doi.org/10.1016/j.siny.2004.12.001DOI Listing
June 2005

Fetal cardiac anomalies and genetic syndromes.

Prenat Diagn 2004 Dec;24(13):1104-15

Institute of Child Health, University College London Hospital, London, UK.

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http://doi.wiley.com/10.1002/pd.1067
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http://dx.doi.org/10.1002/pd.1067DOI Listing
December 2004

Identification of SATB2 as the cleft palate gene on 2q32-q33.

Hum Mol Genet 2003 Oct 29;12(19):2491-501. Epub 2003 Jul 29.

Cell and Molecualr Genentics, MRC Human Genetics Unit, Western General Hospital, Edinburgh, EH4 2XU, UK.

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http://dx.doi.org/10.1093/hmg/ddg248DOI Listing
October 2003