Dr John Dean
MA, MBChB, FRCP, FRCPE
Emeritus Reader
- About
-
- Email Address
- j.dean@abdn.ac.uk
- Telephone Number
- +44 (0)1224 552501
- Office Address
Clinical Genetics,
Ashgrove House,
Forestehill,
Aberdeen
- School/Department
- School of Medicine, Medical Sciences and Nutrition
British Society for Genetic Medicine
The BSGM has recently published a report on the Retention of Genetic Family Records, accessible below:
External Memberships
Secretary of the British Society for Genetic Medicine
Latest Publications
Renin-Angiotensin System inhibitors (RASi) are not nephrotoxic - they protect the kidneys and the heart
Clinical Medicine, vol. 26, no. 3, 100577Contributions to Journals: ArticlesActionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results
American Journal of Human Genetics, vol. 112, no. 4, pp. 793-807Contributions to Journals: ArticlesAn actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
Scientific Reports, vol. 9, 10964Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/s41598-019-47436-6
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/c992d755-3108-4b75-a787-199e49d683f5/download
- [ONLINE] View publication in Scopus
- [ONLINE] View publication in Mendeley
Parents’ views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study
Journal of Community Genetics, vol. 10, no. 1, pp. 129-141Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1007/s12687-018-0373-5
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/f95a3d5d-4f82-419d-af9a-9eadc0039692/download
- [ONLINE] View publication in Mendeley
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
Nature Communications, vol. 9, 4619Contributions to Journals: Articles
- Research
-
Research Overview
Inherited cardiac conditions, epilepsy and learning disability, genomic medicine
- Publications
-
Page 1 of 1 Results 1 to 15 of 15
Renin-Angiotensin System inhibitors (RASi) are not nephrotoxic - they protect the kidneys and the heart
Clinical Medicine, vol. 26, no. 3, 100577Contributions to Journals: ArticlesActionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results
American Journal of Human Genetics, vol. 112, no. 4, pp. 793-807Contributions to Journals: ArticlesAn actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
Scientific Reports, vol. 9, 10964Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/s41598-019-47436-6
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/c992d755-3108-4b75-a787-199e49d683f5/download
- [ONLINE] View publication in Scopus
- [ONLINE] View publication in Mendeley
Parents’ views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study
Journal of Community Genetics, vol. 10, no. 1, pp. 129-141Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1007/s12687-018-0373-5
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/f95a3d5d-4f82-419d-af9a-9eadc0039692/download
- [ONLINE] View publication in Mendeley
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
Nature Communications, vol. 9, 4619Contributions to Journals: ArticlesPhenotype-driven molecular autopsy for sudden cardiac death
Clinical Genetics, vol. 91, no. 1, pp. 22-29Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1111/cge.12778
Structural and electrical cardiac abnormalities are prevalent in asymptomatic adults with myotonic dystrophy
Heart, vol. 102, no. 18, pp. 1472-1478Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1136/heartjnl-2015-308517
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing
Molecular Syndromology, vol. 6, pp. 254-258Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1159/000441134
- [OPEN ACCESS] http://aura.abdn.ac.uk/bitstreams/2fb1fcc4-565d-48c0-891c-910a3d7bef17/download
A high frequency of the MTHFR 677C > T polymorphism in Scottish women with epilepsy: Possible role in pathogenesis
Seizure, vol. 17, no. 3, pp. 269-275Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1016/j.seizure.2007.08.003
Marfan syndrome: clinical diagnosis and management
EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. , vol. 15, no. 7, pp. 724-733Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1038/sj.ejhg.5201851
Characteristics of fetal anticonvulsant syndrome associated autistic disorder
Developmental Medicine and Child Neurology, vol. 47, no. 8, pp. 551-555Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1017/S0012162205001076
Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy
European Journal of Pediatrics, vol. 164, no. 11, pp. 655-669Contributions to Journals: ArticlesLong term health and neurodevelopment in children exposed to antiepileptic drugs before birth
Journal of Medical Genetics, vol. 39, no. 4, pp. 251-259Contributions to Journals: Articles- [ONLINE] DOI: https://doi.org/10.1136/jmg.39.4.251
Stored tissue may be important for the future care of families
British Medical Journal, vol. 322, no. 7293, pp. 1060-1060Contributions to Journals: Letters- [ONLINE] DOI: https://doi.org/10.1136/bmj.322.7293.1060
Aortic distensibility and stiffness index measured by magnetic resonance imaging in patients with Marfan's syndrome
British Heart Journal, vol. 73, no. 3, pp. 265-269Contributions to Journals: Articles