Research output per year
Research output per year
- 13 results
Search results
-
2019
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
Kerr, S. M., Klaric, L., Halachev, M., Hayward, C., Boutin, T. S., Meynert, A. M., Semple, C. A., Tuiskula, A. M., Swan, H., Santoyo-Lopez, J., Vitart, V., Haley, C., Dean, J., Miedzybrodzka, Z., Aitman, T. J. & Wilson, J. F., 29 Jul 2019, In: Scientific Reports. 9, 11 p., 10964.Research output: Contribution to journal › Article › peer-review
Open AccessFile13 Citations (Scopus)5 Downloads (Pure) -
Parents’ views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study
Keenan, K. F., Finnie, R. M., Simpson, W. G., McKee, L., Dean, J. & Miedzybrodzka, Z., Jan 2019, In: Journal of Community Genetics. 10, 1, p. 129-141 13 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile9 Citations (Scopus)9 Downloads (Pure) -
2018
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
DDD Study, 5 Nov 2018, In: Nature Communications. 9, 4 p., 4619.Research output: Contribution to journal › Article › peer-review
Open AccessFile55 Citations (Scopus)10 Downloads (Pure) -
2017
Phenotype-driven molecular autopsy for sudden cardiac death
Cann, F., Corbett, M., O'Sullivan, D., Tennant, S., Hailey, H., Grieve, J. H. K., Broadhurst, P., Rankin, R. & Dean, J. C. S., 1 Jan 2017, In: Clinical Genetics. 91, 1, p. 22-29 8 p.Research output: Contribution to journal › Article › peer-review
27 Citations (Scopus) -
2016
Structural and electrical cardiac abnormalities are prevalent in asymptomatic adults with myotonic dystrophy
Choudhary, P., Nandakumar, R., Greig, H., Broadhurst, P., Dean, J., Puranik, R., Celermajer, D. S. & Hillis, G. S., Sept 2016, In: Heart. 102, 18, p. 1472-1478 7 p.Research output: Contribution to journal › Article › peer-review
25 Citations (Scopus) -
2015
A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing
Constantinou, P., Lochhead, P., D'Allesandro, M., Samant, S., Deciphering Developmental Disorders Study, Dean, J. & Hauptfleisch, C., 2015, In: Molecular Syndromology. 6, p. 254-258 5 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile9 Citations (Scopus)10 Downloads (Pure) -
2008
A high frequency of the MTHFR 677C > T polymorphism in Scottish women with epilepsy: Possible role in pathogenesis
Dean, J., Robertson, Z., Reid, V., Wang, Q., Hailey, H., Moore, S., Rasalam, A. D., Turnpenny, P., Lloyd, D., Shaw, D. & Little, J., Apr 2008, In: Seizure. 17, 3, p. 269-275 7 p.Research output: Contribution to journal › Article
26 Citations (Scopus) -
2007
Marfan syndrome: clinical diagnosis and management
Dean, J. CS., Jul 2007, In: EJHG : European journal of human genetics : the official journal of the European Society of Human Genetics. . 15, 7, p. 724-733 10 p.Research output: Contribution to journal › Article › peer-review
222 Citations (Scopus) -
2005
Characteristics of fetal anticonvulsant syndrome associated autistic disorder
Rasalam, A. D., Hailey, H., Williams, J. H. G., Moore, S. J., Turnpenny, P. D., Lloyd, D. J. & Dean, J., Aug 2005, In: Developmental Medicine and Child Neurology. 47, 8, p. 551-5 5 p.Research output: Contribution to journal › Article › peer-review
335 Citations (Scopus) -
Isolated sulphite oxidase deficiency mimics the features of hypoxic ischaemic encephalopathy
Hobson, E. E., Thomas, S., Crofton, P. M., Murray, A. D., Dean, J. & Lloyd, D. J., 16 Jul 2005, In: European Journal of Pediatrics. 164, 11, p. 655-669 14 p.Research output: Contribution to journal › Article › peer-review
36 Citations (Scopus) -
2002
Long term health and neurodevelopment in children exposed to antiepileptic drugs before birth
Dean, J., Hailey, H., Moore, S. J., Lloyd, D. J., Turnpenny, P. D. & Little, J., 2002, In: Journal of Medical Genetics. 39, 4, p. 251-259 8 p.Research output: Contribution to journal › Article › peer-review
192 Citations (Scopus) -
2001
Stored tissue may be important for the future care of families
Haites, N. E., Dean, J. C. S. & Miedzybrodzka, Z. H., 28 Apr 2001, In: British Medical Journal. 322, 7293, p. 1060-1060 1 p.Research output: Contribution to journal › Letter › peer-review
1 Citation (Scopus) -
1995
Aortic distensibility and stiffness index measured by magnetic resonance imaging in patients with Marfan's syndrome
Adams, J. N., BROOKS, M., Redpath, T. W., Smith, F., Dean, J., Gray, J., WALTON, S. & TRENT, R. J., Mar 1995, In: British Heart Journal. 73, 3, p. 265-269 5 p.Research output: Contribution to journal › Article › peer-review
90 Citations (Scopus)