Louise C Wilson

Bone 2020 Jan 23;130:115098. Epub 2019 Oct 23.

Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, United Kingdom. Electronic address:

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Am J Med Genet A 2019 Jul 15;179(7):1346-1350. Epub 2019 May 15.

Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

J Clin Endocrinol Metab 2019 Apr;104(4):1079-1089

Department for Pediatric Endocrinology and Diabetology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.

Am J Med Genet A 2019 04 13;179(4):615-627. Epub 2019 Feb 13.

Clinical Genetics Service, Great Ormond Street Hospital, London, United Kingdom.

Am J Med Genet A 2018 04 13;176(4):925-935. Epub 2018 Feb 13.

Department of Pediatrics and Medicine, Columbia University, New York, New York.

Am J Med Genet A 2017 Jul 12;173(7):1739-1746. Epub 2017 May 12.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

J Med Genet 2017 04 24;54(4):260-268. Epub 2016 Nov 24.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

Am J Hum Genet 2016 Dec;99(6):1325-1337

Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, UK. Electronic address:

Am J Hum Genet 2016 08 15;99(2):392-406. Epub 2016 Jul 15.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand. Electronic address:

Am J Hum Genet 2016 07 30;99(1):125-38. Epub 2016 Jun 30.

MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh EH4 2XU, UK; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, Otago 9016, New Zealand. Electronic address:

Eur J Hum Genet 2015 Dec 15;23(12):1684-8. Epub 2015 Apr 15.

Craniofacial Unit, Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Oxford, UK.

Am J Med Genet A 2015 Dec 3;167A(12):3153-60. Epub 2015 Sep 3.

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, Hampshire, United Kingdom.

Am J Med Genet A 2015 Jun 21;167(6):1215-22. Epub 2015 Apr 21.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

Nat Genet 2013 Nov 22;45(11):1300-8. Epub 2013 Sep 22.

Helmholtz Center Munich, German Research Center for Environmental Health, Institute for Stem Cell Research, Neuherberg, Germany.

Am J Hum Genet 2013 Nov 31;93(5):932-44. Epub 2013 Oct 31.

Molecular Medicine Unit and Birth Defect Research Centre, Institute of Child Health, University College London (UCL), London WC1N 1EH, UK. Electronic address:

Am J Med Genet A 2013 Sep 2;161A(9):2339-46. Epub 2013 Aug 2.

Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan.

Eur J Med Genet 2013 Aug 19;56(8):404-10. Epub 2013 Jun 19.

Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.

Nat Genet 2013 Mar 27;45(3):304-7. Epub 2013 Jan 27.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

Nat Genet 2013 Mar 27;45(3):308-13. Epub 2013 Jan 27.

Clinical Genetics Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

Eur J Hum Genet 2012 Oct 4;20(10):1024-31. Epub 2012 Apr 4.

South West Thames Regional Genetics Service, St George’s Hospital NHS Trust, London, UK.

Nat Genet 2012 May 18;44(7):793-6. Epub 2012 May 18.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

J Med Genet 2012 Jan;49(1):21-6

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

Hum Mutat 2011 Jul;32(7):853-9

Department of Human Genetics, RUNMC, Nijmegen, The Netherlands.

Am J Med Genet A 2011 Jun 12;155A(6):1414-8. Epub 2011 May 12.

Sheffield Clinical Genetics Services, Sheffield Children's NHS Foundation Trust, UK.

Hum Mutat 2011 Mar;32(3):272-6

Université Paris Descartes, INSERM U-781, France.

Transplantation 2010 Mar;89(5):627-32

Institute of Liver Studies, King's College Hospital, London, United Kingdom.

Pediatr Diabetes 2009 May 22;10(3):193-7. Epub 2008 Oct 22.

Department of Paediatric Endocrinology and Diabetes, Great Ormond Street Hospital for Children, London, UK.

Nat Genet 2009 Jan 14;41(1):95-100. Epub 2008 Dec 14.

Departments of Paediatrics, Dunedin School of Medicine, Otago University, Dunedin 9054, New Zealand.

Hum Mutat 2008 Nov;29(11):E205-19

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

Eur J Med Genet 2007 Sep-Oct;50(5):338-45. Epub 2007 May 27.

Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.

Clin Dysmorphol 2007 Jul;16(3):197-201

Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK.

Am J Med Genet A 2007 Apr;143A(8):799-807

Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

Am J Med Genet A 2006 Dec;140(23):2625-30

Clinical & Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, London, UK.

Am J Hum Genet 2006 Jun 28;78(6):999-1010. Epub 2006 Apr 28.

Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, United Kingdom.

J Pediatr Endocrinol Metab 2006 May;19 Suppl 2:671-3

Clinical & Molecular Genetics Unit, Great Ormond Street Hospital and Institute of Child Health, London, UK.

Am J Med Genet A 2005 Aug;137(2):190-8

Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy.

J Clin Endocrinol Metab 2003 Dec;88(12):5981-8

Departments of Pediatrics, University of Cambridge, Addenbrooke's Hospital, Cambridge CB2 2QQ, United Kingdom.

Am J Hum Genet 2003 Apr 6;72(4):961-74. Epub 2003 Mar 6.

Clinical and Molecular Genetics Unit, Institute of Child Health, and Great Ormond Street Hospital NHS Trust, London, United Kingdom.

Semin Musculoskelet Radiol 2002 Dec;6(4):273-83

Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK.