Get started
Author

Sharon A. Jenkins

Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers
2012 · Ingrid A.W. van Rijsingen, Eloisa Arbustini, et al. · Journal of the American College of Cardiology · 546
PDF
Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy
2011 · Giovanni Quarta, Petros Syrris, et al. · European Heart Journal · 251
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
2013 · Luis R Lopes, Anna Zekavati, et al. · Journal of Medical Genetics · 244
PDF
Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy
2009 · Juan Pablo Kaski, Petros Syrris, et al. · Circulation Cardiovascular Genetics · 225
Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
2014 · Luis R Lopes, Petros Syrris, et al. · Heart · 177
PDF
Gender-Specific Differences in Major Cardiac Events and Mortality in Lamin A/C Mutation Carriers
2012 · Ingrid A.W. van Rijsingen, Eline A. Nannenberg, et al. · European Journal of Heart Failure · 156
RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
2003 · I Zito, S M Downes, et al. · Journal of Medical Genetics · 146
PDF
Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans
2006 · Huimin Wu, Jill A. Cowing, et al. · The American Journal of Human Genetics · 135
Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families
2005 · Neil D. Ebenezer, Michel Michaelides, et al. · Investigative Ophthalmology & Visual Science · 112
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
2021 · Elizabeth K Bancroft, Elizabeth C Page, et al. · The Lancet Oncology · 103
PDF
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB–FKBPL–NOTCH4 region of chromosome 6p21.3
2012 · Valentina Cipriani, Hin-Tak Leung, et al. · Human Molecular Genetics · 90
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation
2017 · Silvia Castelletti, Annina S. Vischer, et al. · International Journal of Cardiology · 89
PDF
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype
2012 · Reecha Sofat, Juan P Casas, et al. · International Journal of Epidemiology · 89
PDF
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy
2007 · M Michaelides, L L Chen, et al. · British Journal of Ophthalmology · 87
PDF
Electrical and Structural Substrate of Arrhythmogenic Right Ventricular Cardiomyopathy Determined Using Noninvasive Electrocardiographic Imaging and Late Gadolinium Magnetic Resonance Imaging
2017 · Christopher M. Andrews, Neil T. Srinivasan, et al. · Circulation Arrhythmia and Electrophysiology · 73
PDF
Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
2008 · P P Rath, S Jenkins, et al. · British Journal of Ophthalmology · 66
PDF
Mutations in the Gene Coding for the Pre-mRNA Splicing Factor, PRPF31 , in Patients with Autosomal Dominant Retinitis Pigmentosa
2007 · Naushin H. Waseem, Veronika Vaclavik, et al. · Investigative Ophthalmology & Visual Science · 61
Maculopathy Due to the R345W Substitution in Fibulin-3: Distinct Clinical Features, Disease Variability, and Extent of Retinal Dysfunction
2006 · Michel Michaelides, Sharon A. Jenkins, et al. · Investigative Ophthalmology & Visual Science · 61
Inter- and intra-observer variability in grading lesions of age-related maculopathy and macular degeneration
2003 · Hendrik P. N. Scholl, Tunde Peto, et al. · Graefe s Archive for Clinical and Experimental Ophthalmology · 57
Mutation in the Gene GUCA1A, Encoding Guanylate Cyclase-Activating Protein 1, Causes Cone, Cone-Rod, and Macular Dystrophy
2005 · Michel Michaelides, Susan E. Wilkie, et al. · Ophthalmology · 54
Localized Retinal Electrophysiological and Fundus Autofluorescence Imaging Abnormalities in Maternal Inherited Diabetes and Deafness
2004 · Caren Bellmann, Magella M. Neveu, et al. · Investigative Ophthalmology & Visual Science · 51
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
2021 · Chiara Fallerini, Nicola Picchiotti, et al. · Human Genetics · 37
PDF
Abnormal septal convexity into the left ventricle occurs in subclinical hypertrophic cardiomyopathy
2015 · Patricia Reant, Gabriella Captur, et al. · Journal of Cardiovascular Magnetic Resonance · 35
PDF
The symmetry of phenotype between eyes of patients with early and late bilateral age-related macular degeneration (AMD)
2010 · Samantha S. Mann, Yvonne Rutishauser-Arnold, et al. · Graefe s Archive for Clinical and Experimental Ophthalmology · 34
What is lost by digitizing stereoscopic fundus color slides for macular grading in age-related maculopathy and degeneration?
2004 · Hendrik P.N Scholl, Samantha S Dandekar, et al. · Ophthalmology · 34
Works count: 50
Citation count: 3,106
H-index: 27
I10-index: 28
Year
Topic
Type