Richard H Scott

Richard H Scott

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Richard H Scott

Richard H Scott

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Genomic medicine: time for health-care transformation.

Lancet 2019 Aug 5;394(10197):454-456. Epub 2019 Aug 5.

Genomics England, Queen Mary University of London, London, UK; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01406736193179
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http://dx.doi.org/10.1016/S0140-6736(19)31796-9DOI Listing
August 2019

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

Clin Med (Lond) 2019 Jul;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

Clinical and molecular characterization of -related severe early-onset epilepsy.

Neurology 2018 01 1;90(1):e55-e66. Epub 2017 Dec 1.

From Molecular Neurosciences (A.M., E.M., A., A.N., M.A.K.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health; Department of Neurology (A.M., A., A.N., C.E., J.H.C., M.A.K.) and Neuroradiology (W.K.C.), Great Ormond Street Hospital for Children, London, UK; Florey Institute of Neuroscience and Mental Health (U.N., E.V.G., I.E.S., S.P.), Melbourne, Australia; Department of Biological Sciences (S.M., M.T.), Institute of Structural and Molecular Biology, Birkbeck College, University of London; Regional Molecular Genetics Laboratory (N.T., R.H.S.), North East Thames Regional Genetics Service, and Department of Clinical Genetics (A.V.K., R.H.S.), Great Ormond Street Hospital, London, UK; Department of Paediatric Neurology (S.A.), Red Cross War Memorial Children's Hospital, Cape Town, South Africa; Department of Paediatric Neurology (G.A.), Addenbrooke's Hospital, Cambridge; Roald Dahl EEG Unit (R.A.), Department of Neurology, and Department of Neurology (R.K.), Alder Hey Children's Hospital, Liverpool; Department of Paediatric Neurology (A.D.), Sheffield Children's Hospital; Clinical Neurosciences (C.E., J.H.C.), Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London; Institute of Infection and Global Health (R.K.), University of Liverpool; Department of Paediatric Neurology (K.L.), Evelina Children's Hospital, Guys and St. Thomas' NHS Foundation Trust, London; Department of Clinical Genetics (T.M.), Northern Genetics Service; Department of Pediatric Neurology (V.R.), Great North Children's Hospital, Newcastle Upon Tyne; Department of Paediatric Neurology (R.S.), University Hospital Leicester Children's Hospital; Department of Paediatric Neurology (J.T.), Royal Manchester Children's Hospital; Department of Paediatric Neurology (W.W.), Nottingham University Hospitals NHS Trust, UK; Epilepsy Genetics Program (A. Poduri), Department of Neurology, Boston Children's Hospital; Department of Neurology (A. Poduri), Harvard Medical School, Boston, MA; University of Melbourne (I.E.S.), Austin Health and Royal Children's Hospital, Australia; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Australia. Dr. Malhotra is currently at the Department of Biochemistry, University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5754647PMC
January 2018

Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.

Clin Dysmorphol 2017 Jan;26(1):13-17

aNorth East Thames Regional Genetics Service bDepartment of Radiology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1097/MCD.0000000000000151DOI Listing
January 2017

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

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

Dev Med Child Neurol 2016 Apr 9;58(4):416-20. Epub 2015 Dec 9.

Department of Neurology, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1111/dmcn.12976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864756PMC
April 2016

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

Am J Med Genet A 2015 Dec 14;167A(12):3096-102. Epub 2015 Sep 14.

Department of Neurology, University of Rochester Medical Center, Rochester, New York.

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http://dx.doi.org/10.1002/ajmg.a.37353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715619PMC
December 2015

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

7q11.23-q21.2 Microdeletion is associated with moderate structural brain abnormalities and global developmental delay: first report.

BMJ Case Rep 2015 Sep 22;2015. Epub 2015 Sep 22.

Department of Clinical Genetics, North East Thames Genetic Service, London, UK.

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http://dx.doi.org/10.1136/bcr-2015-212175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593271PMC
September 2015

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Eur J Hum Genet 2015 May 13;23(5):610-5. Epub 2014 Aug 13.

1] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK [2] Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ejhg.2014.162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402637PMC
May 2015

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

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

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

What is array CGH?

Arch Dis Child Educ Pract Ed 2013 Aug 30;98(4):134-5. Epub 2013 May 30.

Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK.

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http://dx.doi.org/10.1136/archdischild-2013-303962DOI Listing
August 2013

A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma.

Fam Cancer 2010 Sep;9(3):425-30

Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, SM2 5NG, UK.

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http://dx.doi.org/10.1007/s10689-009-9319-8DOI Listing
September 2010

Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations.

J Med Genet 2007 Jul;44(7):e83

Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey, UK, SM2 5NG.

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http://dx.doi.org/10.1136/jmg.2007.048942DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597999PMC
July 2007

Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players.

Hum Mol Genet 2007 Apr;16 Spec No 1:R60-6

Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK.

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http://dx.doi.org/10.1093/hmg/ddm026DOI Listing
April 2007

Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.

Nat Clin Pract Oncol 2007 Feb;4(2):130-4

Section of Cancer Genetics, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.

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http://dx.doi.org/10.1038/ncponc0719DOI Listing
February 2007