Clin Dysmorphol 2021 Jan;30(1):66-68
West of Scotland Genomic Medicine Service, Queen Elizabeth University Hospital, Glasgow, UK.
Am J Med Genet A 2019 10 30;179(10):2075-2082. Epub 2019 Jul 30.
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Clin Genet 2019 10 22;96(4):366-370. Epub 2019 Jul 22.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Genome Res 2019 02 26;29(2):159-170. Epub 2018 Dec 26.
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.
Proteomics Clin Appl 2019 03 27;13(2):e1800135. Epub 2018 Dec 27.
Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow, G12 8TA, UK.
Eur J Hum Genet 2018 11 13;26(11):1611-1622. Epub 2018 Jul 13.
Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.
Am J Med Genet A 2018 04 20;176(4):862-876. Epub 2018 Feb 20.
Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
Clin Dysmorphol 2017 Oct;26(4):243-246
aDevelopmental Endocrinology Research Group, Child Health, School of Medicine, University of Glasgow, Royal Hospital for Children bWest of Scotland Genetics Service, Laboratory Medicine Building, Queen Elizabeth Hospitals, Glasgow cSheffield Diagnostics Genetics Service, Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, UK.
Am J Hum Genet 2017 Jul;101(1):139-148
Division of Medical Genetics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.
Eur J Med Genet 2017 Feb 30;60(2):130-135. Epub 2016 Nov 30.
DDD Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.
J Pediatr Genet 2016 Sep 3;5(3):167-73. Epub 2016 Jun 3.
Child Health, School of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Scotland.
Hum Mol Genet 2016 Mar 5;25(5):927-35. Epub 2016 Jan 5.
Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK,
J Clin Endocrinol Metab 2015 Apr 9;100(4):1221-4. Epub 2015 Feb 9.
Developmental Endocrinology Research Group (A.K.L.-H., S.F.A.), School of Medicine, University of Glasgow, Royal Hospital for Sick Children (RHSC), Yorkhill, Glasgow, G3 8SJ United Kingdom; Department of Clinical Genetics (E.K.), Southern General Hospital, Glasgow, G51 4TF United Kingdom; Laboratory of Bone and Joint Diseases (A.I., Z.W., S.I.), Center for Integrative Medical Sciences, RIKEN, Tokyo 108-8639, Japan; Department of Human Genetics (N.M.), Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan; and Department of Biochemistry (J.M.), Southern General Hospital, 1345 Govan Rd, Glasgow, G51 4TF United Kingdom.
Hum Mutat 2015 Apr 17;36(4):454-62. Epub 2015 Mar 17.
Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, Medical School, University of Zaragoza, CIBERER-GCV and ISS-Aragon, Zaragoza, Spain.
Am J Med Genet A 2015 Mar 21;167A(3):461-75. Epub 2015 Jan 21.
Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.
Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, UK.
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.
Am J Med Genet A 2013 12 8;161A(12):2972-80. Epub 2013 Nov 8.
Division of Genetics & Epidemiology, Institute of Cancer Research, Sutton, UK.
Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):205-16. Epub 2012 Jul 12.
Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Am J Hum Genet 2012 Apr 29;90(4):740-5. Epub 2012 Mar 29.
INSERM U781, Département de Génétique, Université Paris Descartes, Sorbonne Paris Cité, Hôpital Necker Enfants Malades, Paris, France.
Expert Rev Endocrinol Metab 2011 Sep;6(5):731-743
d Department of Child Health, University of Glasgow, Royal Hospital for Sick Children (Yorkhill), Dalnair Street, Glasgow, G3 8SJ, UK.
Clin Dysmorphol 2011 Jan;20(1):1-10
Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK.
Neurogenetics 2010 Oct;11(4):379-89
Department of Medical and Molecular Genetics, King's College London, School of Medicine, Floor 8 Tower Wing, Guy's Hospital, London, SE1 9RT, UK.
Clin Dysmorphol 2008 Jul;17(3):177-9
Department of Clinical Genetics, Leicester Royal Infirmary, Infirmary Square, Leicester, UK.
Science 2008 Feb 3;319(5864):816-9. Epub 2008 Jan 3.
Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Eur J Hum Genet 2008 Jan 17;16(1):18-27. Epub 2007 Oct 17.
National Genetics Reference Laboratory (Wessex), Salisbury NHS Foundation Trust, Salisbury, Wiltshire, UK.
Invest Ophthalmol Vis Sci 2003 May;44(5):2178-83
Institute of Ophthalmology, University College London, London, United Kingdom.
Hum Mol Genet 2003 Feb;12(3):357-64
Department of Medical Genetics and INSERM U393, Hôpital Necker Enfants Malades, 75015 Paris, France.