Lucy Jenkins

Lucy Jenkins

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Lucy Jenkins

Lucy Jenkins

Publications by authors named "Lucy Jenkins"

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The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.

Ophthalmology 2019 Jun 14;126(6):888-907. Epub 2019 Jan 14.

UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183185
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http://dx.doi.org/10.1016/j.ophtha.2018.12.050DOI Listing
June 2019

Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.

Prenat Diagn 2019 Apr 12;39(5):379-387. Epub 2019 Mar 12.

CEQAS/GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

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http://dx.doi.org/10.1002/pd.5438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6619285PMC
April 2019

Clinical and diagnostic features of Bartter and Gitelman syndromes.

Clin Kidney J 2018 Jun 10;11(3):302-309. Epub 2017 Nov 10.

Department of Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1093/ckj/sfx118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007694PMC
June 2018

Catalytic Dinitrogen Reduction to Ammonia at a Triamidoamine-Titanium Complex.

Angew Chem Int Ed Engl 2018 05 23;57(21):6314-6318. Epub 2018 Apr 23.

School of Chemistry, The University of Manchester, Oxford Road, Manchester, M13 9PL, UK.

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http://dx.doi.org/10.1002/anie.201802576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003280PMC
May 2018

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Kidney Int 2018 04 15;93(4):961-967. Epub 2018 Feb 15.

Centre for Nephrology, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2017.10.016DOI Listing
April 2018

Delivering an accredited non-invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice.

Prenat Diagn 2018 01;38(1):44-51

West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.

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http://doi.wiley.com/10.1002/pd.5197
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http://dx.doi.org/10.1002/pd.5197DOI Listing
January 2018

Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion.

Prenat Diagn 2017 Jul 8;37(7):699-704. Epub 2017 Jun 8.

UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.5068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525582PMC
July 2017

Clinical and molecular aspects of distal renal tubular acidosis in children.

Pediatr Nephrol 2017 06 10;32(6):987-996. Epub 2017 Feb 10.

Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-016-3573-4DOI Listing
June 2017

Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children.

Pediatr Nephrol 2017 06;32(6):1095

Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-017-3631-6DOI Listing
June 2017

Child-Parent Familial Hypercholesterolemia Screening in Primary Care.

N Engl J Med 2016 10;375(17):1628-1637

From the Wolfson Institute of Preventive Medicine, Barts and the London School of Medicine and Dentistry, Queen Mary University of London (D.S.W., J.P.B., J.K.M., K.W., N.J.W.), and the North East Thames Molecular Genetics Laboratory, Great Ormond Street Hospital (L.J.) - all in London.

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http://dx.doi.org/10.1056/NEJMoa1602777DOI Listing
October 2016

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.

Prenat Diagn 2016 Jul 22;36(7):636-42. Epub 2016 May 22.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6680142PMC
July 2016

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

J Med Genet 2016 05 18;53(5):310-7. Epub 2016 Mar 18.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK Genetics and Genomic Medicine Unit, University College London Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862068PMC
May 2016

Delineation of the movement disorders associated with FOXG1 mutations.

Neurology 2016 05 30;86(19):1794-800. Epub 2016 Mar 30.

From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862244PMC
May 2016

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

Prenat Diagn 2015 Oct 5;35(10):950-8. Epub 2015 Apr 5.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672687PMC
October 2015

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

Prenat Diagn 2015 Jul 26;35(7):656-62. Epub 2015 May 26.

N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657458PMC
July 2015

The postnatal features of bent bone dysplasia-FGFR2 type.

Clin Dysmorphol 2014 Jan;23(1):8-11

aNorth East Thames Regional Genetics Service, Great Ormond Street Hospital bClinical and Molecular Genetics Unit, Institute of Child Health cDepartment of Radiology, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000022DOI Listing
January 2014

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

BMC Med Genet 2013 Aug 21;14:85. Epub 2013 Aug 21.

North East Thames Regional Genetics Service Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust, 37 Queen Square,York House, London WC1N 3BH, UK.

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http://dx.doi.org/10.1186/1471-2350-14-85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765178PMC
August 2013

Genetic testing in children with surfactant dysfunction.

Arch Dis Child 2013 Jul 26;98(7):490-5. Epub 2013 Apr 26.

Department of Pediatric Intensive Care, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1136/archdischild-2012-303166DOI Listing
July 2013

The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made.

Prenat Diagn 2013 Jun;33(6):555-62

NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1002/pd.4124DOI Listing
June 2013

Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom.

Expert Opin Biol Ther 2012 Jun 16;12 Suppl 1:S119-26. Epub 2012 Apr 16.

Institute of Child Health, Great Ormond Street Hospital for Children NHS Trust, Clinical and Molecular Genetics, 30 Guildford Street, London WC1N 6EH, UK.

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http://dx.doi.org/10.1517/14712598.2012.666522DOI Listing
June 2012

Implementing evidence in practice: do action lists work?

Educ Prim Care 2012 Mar;23(2):107-14

University of Buckingham, Buckingham, UK.

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March 2012

Aspirin for prevention of cancer and cardiovascular disease.

Br J Gen Pract 2011 Jun;61(587):412-5

Department of Primary Health Care, University of Oxford, UK.

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http://dx.doi.org/10.3399/bjgp11X578133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3103689PMC
June 2011

Molecular prenatal diagnosis: the impact of modern technologies.

Prenat Diagn 2010 Jul;30(7):674-81

Cambridge Institute for Medical Research, Department of Medical Genetics, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1002/pd.2575DOI Listing
July 2010

Doctors' and patients' use of the Internet for healthcare: a study from one general practice.

Health Info Libr J 2002 Dec;19(4):233-5

Department of Primary Health Care, University of Oxford, UK.

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December 2002

Preschool children with disruptive behavior: three-year outcome as a function of adaptive disability.

Dev Psychopathol 2002 ;14(1):45-67

Department of Psychiatry, University of Massachusetts Medical Center, Worcester 01655, USA.

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September 2002