16 Publications
Genet Med 2021 Jan 20. Epub 2021 Jan 20.
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.
Am J Ophthalmol 2020 10 20;218:255-260. Epub 2020 May 20.
Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom; Institute of Biomedical and Clinical Science, University of Exeter School of Medicine, Exeter, United Kingdom.
Am J Hum Genet 2020 02 30;106(2):272-279. Epub 2020 Jan 30.
Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter EX2 5DW, UK. Electronic address:
Clin Endocrinol (Oxf) 2019 02 27;90(2):328-333. Epub 2018 Nov 27.
The Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Prenat Diagn 2018 01 3;38(1):33-43. Epub 2017 Dec 3.
Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
J Mol Med (Berl) 2015 Nov 14;93(11):1247-55. Epub 2015 Jun 14.
Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Melchor Fernández Almagro 3, 28029, Madrid, Spain.
Am J Med Genet A 2014 Apr 23;164A(4):907-14. Epub 2014 Jan 23.
Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
Genet Med 2013 Aug 7;15(8):650-7. Epub 2013 Mar 7.
Department of Human Genetics, Montreal Children's Hospital Research Institute, McGill University, Montreal, Quebec, Canada.
Rheumatology (Oxford) 2012 Oct 26;51(10):1919-21. Epub 2012 Apr 26.
Hum Genomics 2010 Aug;4(6):384-93
Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff CF144XN, UK.
Genet Test Mol Biomarkers 2009 Jun;13(3):381-6
Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, United Kingdom.
Prenat Diagn 2008 May;28(5):384-8
Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
Eur J Pediatr 2008 Nov 4;167(11):1231-7. Epub 2008 Jan 4.
Department of Pediatric Endocrinology, Akdeniz University Hospital, Antalya, Turkey.
Brain 2004 Dec 13;127(Pt 12):2672-81. Epub 2004 Oct 13.
Division of Psychological Medicine, Department of Neurology, Institute of Psychiatry, King's College London, DeCrespigny Park, UK.
Neuropsychologia 2004 ;42(14):1934-47
Division of Psychological Medicine, Section of Brain Maturation, Institute of Psychiatry, King's College London, DeCrespigny Park, London, UK.
Eur J Dermatol 2002 Sep-Oct;12(5):428-31
Dept. of Dermatology, G lhane Military Medical Academy, School of Medicine, 06018 Ankara, Turkey.