• 760 Citations
19952019
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Research Output 1995 2019

  • 760 Citations
  • 12 Article
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 journalArticle

Open Access
File
Long QT Syndrome
Haplotypes
Sequence Analysis
Research
Population
2 Citations (Scopus)
5 Downloads (Pure)
Open Access
File
Hyperlipoproteinemia Type II
Genetic Testing
Parents
Therapeutics
Social Adjustment
2018
8 Citations (Scopus)
1 Downloads (Pure)
Open Access
File
2017
13 Citations (Scopus)

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

Sudden Cardiac Death
Autopsy
Hypertrophic Cardiomyopathy
Dilated Cardiomyopathy
Phenotype
2016
9 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

Myotonic Dystrophy
Stroke Volume
Molecular Biology
Electrocardiography
Genetic Databases
2015
1 Citation (Scopus)
6 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
Exome
Failure to Thrive
Cleft Palate
Vitamin B 12
Liver
2008
21 Citations (Scopus)

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

2007
170 Citations (Scopus)
Marfan Syndrome
Loeys-Dietz Syndrome
Ectopia Lentis
Exercise
Pathologic Dilatations
2005
260 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

Autistic Disorder
Anticonvulsants
Diagnostic and Statistical Manual of Mental Disorders
Valproic Acid
Asperger Syndrome
26 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., 2005, In : European Journal of Pediatrics. 164, 11, p. 655-669 14 p.

Research output: Contribution to journalArticle

2002
172 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

1995
78 Citations (Scopus)

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