Publications by authors named "Hywel J Williams"

37Publications

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.

Neurol Genet 2020 Aug 10;6(4):e448. Epub 2020 Jun 10.

UCL Great Ormond Street Institute of Child Health (Y.H., A.K., B.J., T.S.J., E.O., D.S., V.G., P.A.B., D.E.); Histopathology Department (O.O.), Great Ormond Street Hospital, London; Paediatric Neurology Department (A.A.M.), and Genetics Department (M.T., R.N.-E.), Bristol Royal Hospital for Children; Genetics Department (J.R.), Royal Devon and Exeter NHS Foundation Trust, Exeter; Centre for Translational Omics-GOSgene (H.J.W.), UCL GOS Institute of Child Health; and Centre for Adolescent Rheumatology Versus Arthritis (D.E.), London, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323481PMC
August 2020

Information Is the Resolution of Uncertainty: Whole Genome Approaches to Genetic Diagnosis on the PICU.

Pediatr Crit Care Med 2019 11;20(11):1087-1088

Respiratory Critical Care and Anaesthesia Unit, Infection, Immunity and Inflammation Research & Teaching Department, UCL Great Ormond Street Institute of Child Health; and Paediatric Intensive Care Unit, Heart and Lung Division, Great Ormond Street Hospital, London, United Kingdom Genetic and Genomic Medicine, School of Medicine, Cardiff University, Cardiff, United Kingdom.

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http://dx.doi.org/10.1097/PCC.0000000000002091DOI Listing
November 2019

Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.

Expert Rev Mol Diagn 2016 10 25;16(10):1073-1082. Epub 2016 Aug 25.

b GOSgene, Genetics and Genomic Medicine Programme , UCL GOS Institute of Child Health , London , England.

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http://dx.doi.org/10.1080/14737159.2016.1222906DOI Listing
October 2016

Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.

Psychiatr Genet 2016 Apr;26(2):60-5

MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine & Neurology, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1097/YPG.0000000000000110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756433PMC
April 2016

The use of whole-exome sequencing to disentangle complex phenotypes.

Eur J Hum Genet 2016 Feb 10;24(2):298-301. Epub 2015 Jun 10.

Centre for Translational Omics - GOSgene, UCL Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717198PMC
February 2016

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Eur J Hum Genet 2016 Jan 10;24(1):135-8. Epub 2015 Jun 10.

Reproductive Medicine Unit, Institute for Women's Health, University College London Hospitals, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795223PMC
January 2016

Schizophrenia two-hit hypothesis in velo-cardio facial syndrome.

Am J Med Genet B Neuropsychiatr Genet 2013 Mar 17;162B(2):177-82. Epub 2013 Jan 17.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1002/ajmg.b.32129DOI Listing
March 2013

Phenotype evaluation and genomewide linkage study of clinical variables in schizophrenia.

Am J Med Genet B Neuropsychiatr Genet 2011 Dec 29;156B(8):929-40. Epub 2011 Sep 29.

MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1002/ajmg.b.31240DOI Listing
December 2011

Association between TCF4 and schizophrenia does not exert its effect by common nonsynonymous variation or by influencing cis-acting regulation of mRNA expression in adult human brain.

Am J Med Genet B Neuropsychiatr Genet 2011 Dec 2;156B(7):781-4. Epub 2011 Aug 2.

MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, UK.

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http://doi.wiley.com/10.1002/ajmg.b.31219
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http://dx.doi.org/10.1002/ajmg.b.31219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168711PMC
December 2011

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries.

Hum Mol Genet 2011 Jan 29;20(2):387-91. Epub 2010 Oct 29.

MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1093/hmg/ddq471DOI Listing
January 2011

Schizophrenia genetics: new insights from new approaches.

Br Med Bull 2009 14;91:61-74. Epub 2009 May 14.

MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1093/bmb/ldp017DOI Listing
August 2011

Schizophrenia genetics: advancing on two fronts.

Curr Opin Genet Dev 2009 Jun 1;19(3):266-70. Epub 2009 Apr 1.

MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1016/j.gde.2009.02.008DOI Listing
June 2009

New findings from genetic association studies of schizophrenia.

J Hum Genet 2009 Jan 9;54(1):9-14. Epub 2009 Jan 9.

Department of Psychological Medicine, School of Medicine, Cardiff Universty, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1038/jhg.2008.7DOI Listing
January 2009

Is COMT a susceptibility gene for schizophrenia?

Schizophr Bull 2007 May 4;33(3):635-41. Epub 2007 Apr 4.

Department of Psychological Medicine, School of Medicine, Cardiff Uniiversity, Henry Wellcome Building, Health Park, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1093/schbul/sbm019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2526139PMC
May 2007

Association analysis of AKT1 and schizophrenia in a UK case control sample.

Schizophr Res 2007 Jul 26;93(1-3):58-65. Epub 2007 Mar 26.

Department of Psychological Medicine, Wales School of Medicine, Henry Wellcome Building, Cardiff University, Heath Park, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1016/j.schres.2007.02.006DOI Listing
July 2007

An update on the genetics of schizophrenia.

Curr Opin Psychiatry 2006 Mar;19(2):158-64

Department of Psychological Medicine, Wales School of Medicine, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1097/01.yco.0000214341.52249.59DOI Listing
March 2006

No association between schizophrenia and polymorphisms in COMT in two large samples.

Am J Psychiatry 2005 Sep;162(9):1736-8

Department of Psychological Medicine, Henry Wellcome Building for Biomedical Research, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

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http://dx.doi.org/10.1176/appi.ajp.162.9.1736DOI Listing
September 2005

No evidence for association between polymorphisms in GRM3 and schizophrenia.

BMC Psychiatry 2005 May 13;5:23. Epub 2005 May 13.

Department of Psychological Medicine, Wales School of Medicine, Henry Wellcome Building, Cardiff University, Heath Park, Cardiff, UK.

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http://dx.doi.org/10.1186/1471-244X-5-23DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1142331PMC
May 2005

Identification and analysis of the promoter region of the human hyaluronan synthase 2 gene.

J Biol Chem 2004 May 25;279(20):20576-81. Epub 2004 Feb 25.

Institute of Nephrology, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, Wales, UK.

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http://dx.doi.org/10.1074/jbc.M312666200DOI Listing
May 2004

A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain.

Am J Hum Genet 2003 Jul 11;73(1):152-61. Epub 2003 Jun 11.

Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, CF14 4XN, Wales, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S000292970763901
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180576PMC
http://dx.doi.org/10.1086/376578DOI Listing
July 2003

Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools.

Hum Genet 2002 May 23;110(5):471-8. Epub 2002 Mar 23.

Department of Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, UK.

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http://dx.doi.org/10.1007/s00439-002-0706-6DOI Listing
May 2002