Publications by authors named "Nicholas Lench"

29Publications

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

Prenat Diagn 2015 Oct 11;35(10):1010-7. Epub 2015 Sep 11.

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.4675DOI Listing
October 2015

Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.

Dev Med Child Neurol 2015 Oct 23;57(10):969-76. Epub 2015 Apr 23.

NIHR University College London Hospitals Biomedical Research Centre, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/dmcn.12781DOI Listing
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

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease--evaluation and prospective analysis.

J Med Genet 2014 Nov 5;51(11):748-55. Epub 2014 Sep 5.

Department of Gastroenterology, Great Ormond Street Hospital for Children, London, UK Katholic University Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1136/jmedgenet-2014-102624DOI Listing
November 2014

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.

BMC Pregnancy Childbirth 2014 Jul 16;14:229. Epub 2014 Jul 16.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Level 5, York House, 37 Queen Square, London WC1N 3BH, UK.

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http://dx.doi.org/10.1186/1471-2393-14-229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226037PMC
July 2014

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.

Pediatr Nephrol 2014 Nov 6;29(11):2173-80. Epub 2014 Jun 6.

Department of Paediatric 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/s00467-014-2856-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176949PMC
November 2014

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

Am J Med Genet A 2014 Jul 3;164A(7):1777-83. Epub 2014 Apr 3.

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

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http://dx.doi.org/10.1002/ajmg.a.36506DOI Listing
July 2014

Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization.

Prenat Diagn 2014 Jan 14;34(1):98-101. Epub 2013 Nov 14.

NE 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.4255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352329PMC
January 2014

Evaluation of real-time quantitative PCR as a standard cytogenetic diagnostic tool for confirmation of microarray (aCGH) results and determination of inheritance.

Genet Test Mol Biomarkers 2013 Nov 11;17(11):821-5. Epub 2013 Sep 11.

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

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http://dx.doi.org/10.1089/gtmb.2013.0284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3816777PMC
November 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

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss.

Int J Audiol 2013 Feb 7;52(2):124-33. Epub 2012 Nov 7.

National Institute for Health Research (NIHR) Horizon Scanning Centre, School of Health and Population Sciences, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.3109/14992027.2012.733424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3545543PMC
February 2013

Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

Ann Hum Genet 2012 Sep;76(5):387-401

British Heart Foundation Laboratories, Centre for Cardiovascular Genetics, Institute of Cardiovascular Sciences, University College London, London, UK.

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http://doi.wiley.com/10.1111/j.1469-1809.2012.00724.x
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http://dx.doi.org/10.1111/j.1469-1809.2012.00724.xDOI Listing
September 2012

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Pediatr Nephrol 2011 Aug 20;26(8):1331-4. Epub 2011 May 20.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-011-1884-zDOI Listing
August 2011

Genetics--getting personal.

Authors:
Nicholas J Lench

Drug Discov Today 2008 Mar 4;13(5-6):189-91. Epub 2008 Mar 4.

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http://linkinghub.elsevier.com/retrieve/pii/S135964460800008
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http://dx.doi.org/10.1016/j.drudis.2008.01.001DOI Listing
March 2008

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants.

Hum Mol Genet 2003 Oct 19;12(20):2569-75. Epub 2003 Aug 19.

Wellcome Trust Centre for Human Genetics and Gastoenterology Unit, University of Oxford, UK.

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http://dx.doi.org/10.1093/hmg/ddg281DOI Listing
October 2003