• 776 Citations
19952019

Research output per year

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Research Output

  • 776 Citations
  • 12 Article
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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 journalArticle

22 Citations (Scopus)

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 journalArticle

Open Access
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2 Downloads (Pure)

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 journalArticle

Open Access
File
2 Citations (Scopus)
7 Downloads (Pure)

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 journalArticle

78 Citations (Scopus)

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 journalArticle

264 Citations (Scopus)
Open Access
File
8 Citations (Scopus)
2 Downloads (Pure)

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., 2005, In : European Journal of Pediatrics. 164, 11, p. 655-669 14 p.

Research output: Contribution to journalArticle

27 Citations (Scopus)

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 journalArticle

173 Citations (Scopus)
174 Citations (Scopus)
Open Access
File
2 Citations (Scopus)
6 Downloads (Pure)

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 journalArticle

14 Citations (Scopus)

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., Sep 2016, In : Heart. 102, 18, p. 1472-1478 7 p.

Research output: Contribution to journalArticle

12 Citations (Scopus)