Michael A Simpson

Michael A Simpson

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Michael A Simpson

Michael A Simpson

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Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2).

Br J Haematol 2019 Aug 28;186(3):e60-e64. Epub 2019 Mar 28.

Department of Immunological Medicine, School of Immunology and Microbial Sciences, Faculty of Life Sciences and Medicine, School of medicine, King's College London, King's Health Partners, King's College Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/bjh.15896DOI Listing
August 2019

Frequency of Pathogenic Germline Variants in , and in Sporadic Lobular Breast Cancer.

Cancer Epidemiol Biomarkers Prev 2019 Jul;28(7):1162-1168

School of Cancer and Pharmaceutical Sciences, Guy's Hospital, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-18-1102DOI Listing
July 2019

Noncardiac genetic predisposition in sudden infant death syndrome.

Genet Med 2019 03 24;21(3):641-649. Epub 2018 Aug 24.

Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom.

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http://www.nature.com/articles/s41436-018-0131-4
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http://dx.doi.org/10.1038/s41436-018-0131-4DOI Listing
March 2019

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02.

Nat Commun 2019 03 8;10(1):1150. Epub 2019 Mar 8.

St. John's Institute of Dermatology, King's College London, London, Guy's Hospital, London, SE1 9RT, UK.

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http://dx.doi.org/10.1038/s41467-019-09117-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6408457PMC
March 2019

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).

JAMA Dermatol 2019 02;155(2):257-259

St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, England.

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http://dx.doi.org/10.1001/jamadermatol.2018.4665DOI Listing
February 2019

Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome.

J Pediatr 2018 12 26;203:423-428.e11. Epub 2018 Sep 26.

Department of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.08.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394853PMC
December 2018

Mutation in is associated with severe congenital thrombocytopenia.

Blood 2018 10 25;132(17):1855-1858. Epub 2018 Jun 25.

Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.

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http://dx.doi.org/10.1182/blood-2018-04-847798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6238157PMC
October 2018

Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series.

Circulation 2018 06;137(25):2705-2715

Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory (G.W.S., D.J.T., J.P.A., M.J.A.)

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http://dx.doi.org/10.1161/CIRCULATIONAHA.117.031053DOI Listing
June 2018

Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients.

Hum Mutat 2018 05 15;39(5):643-652. Epub 2018 Mar 15.

Department of Medical & Molecular Genetics, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1002/humu.23413DOI Listing
May 2018

Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair.

J Invest Dermatol 2018 04 11;138(4):984-987. Epub 2017 Nov 11.

Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2017.10.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869049PMC
April 2018

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

J Am Coll Cardiol 2018 03;71(11):1217-1227

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2018.01.030DOI Listing
March 2018

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

J Dermatol Sci 2018 Feb 2;89(2):198-201. Epub 2017 Dec 2.

St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2017.11.012DOI Listing
February 2018

MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours.

Br J Cancer 2018 01 9;118(2):277-284. Epub 2018 Jan 9.

School of Cancer and Pharmaceutical Sciences, Guy's Hospital, King's College London, London SE1 9RT, UK.

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http://dx.doi.org/10.1038/bjc.2017.450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785756PMC
January 2018

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

Am J Med Genet A 2017 Nov 8;173(11):3109-3113. Epub 2017 Sep 8.

St John's Institute of Dermatology, Division of Genetics and Molecular Medicine, King's College London, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.38414DOI Listing
November 2017

Mutations Cause Congenital Nephrotic Syndrome.

J Am Soc Nephrol 2017 May 8;28(5):1614-1621. Epub 2016 Dec 8.

Bristol Renal and Children's Renal Unit, School of Clinical Sciences, University of Bristol, Bristol, United Kingdom;

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http://dx.doi.org/10.1681/ASN.2016040387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407720PMC
May 2017

Fine mapping genetic associations between the HLA region and extremely high intelligence.

Sci Rep 2017 01 24;7:41182. Epub 2017 Jan 24.

MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology &Neuroscience, King's College London, London SE5 8AF, UK.

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http://dx.doi.org/10.1038/srep41182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5259706PMC
January 2017

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

Am J Med Genet A 2016 12 19;170(12):3133-3137. Epub 2016 Sep 19.

Division of Medical and Molecular Genetics, King's College London, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37946DOI Listing
December 2016

Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

J Dermatol Sci 2016 Nov 11;84(2):210-212. Epub 2016 Aug 11.

St. John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2016.08.011DOI Listing
November 2016

Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis.

Exp Dermatol 2016 11;25(11):847-852

St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.

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http://dx.doi.org/10.1111/exd.13071DOI Listing
November 2016

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.

J Invest Dermatol 2016 10 25;136(10):2095-2098. Epub 2016 Jun 25.

St John's Institute of Dermatology, King's College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.06.016DOI Listing
October 2016

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

Acta Derm Venereol 2016 May;96(4):557-9

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

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http://dx.doi.org/10.2340/00015555-2307DOI Listing
May 2016

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Hum Mol Genet 2016 05 3;25(9):1836-45. Epub 2016 Mar 3.

Centre for Rare Diseases and Personalised Medicine, West Midlands Regional Genetics Service, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester M13 9WL, UK

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http://dx.doi.org/10.1093/hmg/ddw057DOI Listing
May 2016

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.

J Dermatol Sci 2016 Feb 27;81(2):134-6. Epub 2015 Oct 27.

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2015.10.015DOI Listing
February 2016

Assessment of Minimal Residual Disease in Standard-Risk AML.

N Engl J Med 2016 Feb 20;374(5):422-33. Epub 2016 Jan 20.

From the Molecular Oncology Unit and Cancer Genetics Laboratory, Department of Medical and Molecular Genetics, Guy's Hospital (A.I.), the Department of Medical and Molecular Genetics (M.A.S., J.V.J., E.S., D.G.) and Department of Asthma, Allergy and Respiratory Science (H.F., F.M.), Faculty of Life Sciences and Medicine, King's College London, the Department of Haematology, University College London (Y.P., D.C.L., R.E.G.), and the Innovation Department, Cancer Research UK (N.B.), London, the Experimental Cancer Medicine Centre (A. Gilkes) and Department of Haematology (R.K.H., A.K.B.), Cardiff University School of Medicine, and the Haematology Clinical Trials Unit, Cardiff University (A. Grech), Cardiff, West Midlands Regional Genetics Laboratory, Birmingham (J.M., K.W., S.A., M.G.), MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine and Department of Haematology, University of Oxford and Oxford University Hospitals NHS Trust, and the National Institute for Health Research Oxford Biomedical Research Centre (P.V.), Oxford, the Department of Clinical Immunology, University of Birmingham, Birmingham (S.D.F.), and the Centre for Clinical Haematology, Nottingham University Hospital, Nottingham (N.R.) - all in the United Kingdom.

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http://dx.doi.org/10.1056/NEJMoa1507471DOI Listing
February 2016

Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease.

Hum Mutat 2015 Dec 7;36(12):1135-44. Epub 2015 Oct 7.

Division of Genetics and Molecular Medicine, King's College London, London, UK.

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http://dx.doi.org/10.1002/humu.22906DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4982032PMC
December 2015

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.

J Dermatol Sci 2015 Sep 6;79(3):317-9. Epub 2015 Jul 6.

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.jdermsci.2015.07.001DOI Listing
September 2015

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features.

Mol Genet Genomic Med 2015 Sep 4;3(5):452-8. Epub 2015 Jun 4.

Department of Pediatrics, The University of Pennsylvania Philadelphia, 19104, Pennsylvania ; Division of Biochemical Genetics, The Children's Hospital of Philadelphia Philadelphia, 19104, Pennsylvania.

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http://dx.doi.org/10.1002/mgg3.156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4585453PMC
September 2015

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

Cancer Discov 2015 Jul 14;5(7):723-9. Epub 2015 Apr 14.

Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom. Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/2159-8290.CD-14-1096DOI Listing
July 2015

Diversity and impact of rare variants in genes encoding the platelet G protein-coupled receptors.

Thromb Haemost 2015 Apr 8;113(4):826-37. Epub 2015 Jan 8.

Dr. A. D. Mumford, University of Bristol, Level 7 Bristol Royal Infirmary, Bristol, BS2 8HW, United Kingdom, Tel.: +44 117 3423152, Fax: +44 117 3424036, E-mail

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http://dx.doi.org/10.1160/TH14-08-0679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510585PMC
April 2015

Thinking positively: The genetics of high intelligence.

Intelligence 2015 Jan;48:123-132

King's College London, MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology & Neuroscience, London, SE5 8AF, United Kingdom.

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http://dx.doi.org/10.1016/j.intell.2014.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4286575PMC
January 2015

Germline FH mutations presenting with pheochromocytoma.

J Clin Endocrinol Metab 2014 Oct 8;99(10):E2046-50. Epub 2014 Jul 8.

Department of Medical Genetics (G.R.C., E.R.M.), University of Cambridge and National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, United Kingdom; Medical Research Council (MRC) Cancer Unit (M.S., E.G., C.F.), University of Cambridge, Hutchison/MRC Research Centre, Cambridge CB2 0XZ, United Kingdom; Centre for Rare Diseases and Personalized Medicine (D.M.W., G.K., E.R.W.), University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom; West Midlands Regional Genetics Service (G.K., E.R.W.), Birmingham Women's Hospital, Birmingham B15 2TG, United Kingdom; Division of Genetics and Molecular Medicine (M.A.S., R.C.T.), King's College London School of Medicine, Guy's Hospital, London WC2R 2LS, United Kingdom; Department of Clinical Genetics (J.N.B.), University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, United Kingdom; Department of Clinical Genetics (E.K.), Royal Hospital for Sick Children (Yorkhill), Glasgow G3 8SJ, United Kingdom; and Department of Medical Genetics (P.J.M.), Queen's University Belfast, Belfast Health and Social Care Trust, Belfast BT9 7AB, United Kingdom.

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http://dx.doi.org/10.1210/jc.2014-1659DOI Listing
October 2014

Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome.

Am J Hum Genet 2014 Sep 21;95(3):308-14. Epub 2014 Aug 21.

St. John's Institute of Dermatology, King's College London, Guy's Campus, London SE1 9RT, UK; Dermatology and Genetic Medicine, College of Life Sciences and College of Medicine, Dentistry, and Nursing, University of Dundee, Dundee DD1 5EH, UK. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(14)00345-0.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971400345
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http://dx.doi.org/10.1016/j.ajhg.2014.08.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157147PMC
September 2014

The ErbB4 CYT2 variant protects EGFR from ligand-induced degradation to enhance cancer cell motility.

Sci Signal 2014 Aug 19;7(339):ra78. Epub 2014 Aug 19.

Richard Dimbleby Department of Cancer Research, Randall Division of Cell and Molecular Biophysics, King's College London, Guy's Medical School Campus, London SE1 1UL, UK. Division of Cancer Studies, King's College London, London SE1 1UL, UK. Breakthrough Breast Cancer Research Unit, Research Oncology, King's College London, Guy's Hospital, London SE1 9RT, UK. UCL Cancer Institute, Paul O'Gorman Building, University College London, London WC1E 6BT, UK.

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http://dx.doi.org/10.1126/scisignal.2005157DOI Listing
August 2014

Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A.

Pediatr Dermatol 2013 Sep-Oct;30(5):e87-8. Epub 2013 Mar 28.

Department of Dermatology, College of Medicine, University of Illinois, Chicago, Illinois.

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http://doi.wiley.com/10.1111/pde.12092
Publisher Site
http://dx.doi.org/10.1111/pde.12092DOI Listing
April 2014

Mutations in TJP2 cause progressive cholestatic liver disease.

Nat Genet 2014 Apr 9;46(4):326-8. Epub 2014 Mar 9.

1] Institute of Liver Studies, Division of Transplantation Immunology and Mucosal Biology, King's College London School of Medicine, London, UK. [2] Paediatric Liver, GI and Nutrition Centre, King's College Hospital, London, UK.

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http://dx.doi.org/10.1038/ng.2918DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4061468PMC
April 2014

The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.

J Invest Dermatol 2014 Mar 4;134(3):845-849. Epub 2013 Sep 4.

Department of Dermatology, University Medical Center Freiburg, Freiburg, Germany; Freiburg Institute for Advanced Studies, University of Freiburg, Freiburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153666
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http://dx.doi.org/10.1038/jid.2013.367DOI Listing
March 2014

Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?

J Invest Dermatol 2014 Feb 16;134(2):580-581. Epub 2013 Aug 16.

Division of Genetics and Molecular Medicine, Guy's Hospital, King's College, London, UK; Division of Genetics and Molecular Medicine, St John's Institute of Dermatology, Guy's Hospital, London, UK; Guy's and St Thomas' NHS Foundation Trust, Skin Therapy Research Unit, St John's Institute of Dermatology, St Thomas' Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.349DOI Listing
February 2014

Next generation diagnostics of heritable connective tissue disorders.

Matrix Biol 2014 Jan 26;33:35-40. Epub 2013 Jul 26.

St John's Institute of Dermatology, King's College London, Floor 9 Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.matbio.2013.06.004DOI Listing
January 2014

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic.

Exp Dermatol 2013 Dec;22(12):825-31

St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK; Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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http://dx.doi.org/10.1111/exd.12276DOI Listing
December 2013

The future of genomics for developmentalists.

Dev Psychopathol 2013 Nov;25(4 Pt 2):1263-78

King's College London.

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http://dx.doi.org/10.1017/S0954579413000606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3967388PMC
November 2013

Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy.

Genomics 2013 Oct 3;102(4):223-8. Epub 2013 Jul 3.

Department of Informatics, King's College London, Strand Campus, The Strand, London WC2R 2LS, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2013.06.005DOI Listing
October 2013

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

Orphanet J Rare Dis 2013 May 16;8:74. Epub 2013 May 16.

Department of Medical and Molecular Genetics and Centre for Rare Diseases and Personalised Medicine, University of Birmingham School of Medicine, Birmingham, UK.

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http://dx.doi.org/10.1186/1750-1172-8-74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659031PMC
May 2013