Neil D. Ebenezer

Medicine · Health Sciences

29h-index2.9kcitations63works0.02yr avg
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Research Topics

Corneal surgery and disorders(21), Glaucoma and retinal disorders(13), Corneal Surgery and Treatments(13), Retinal Development and Disorders(9), Retinal Diseases and Treatments(7)

Publications63 total

Electromobility in the Global South: An Equitable Transition toward Road Passenger Transport Decarbonization
Zenodo (CERN European Organization for Nuclear Research)·2021· 3 citedOpen Access
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
The American Journal of Human Genetics·2015· 78 citedOpen Access
Severe Meesmann’s epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12
Eye·2012· 21 citedOpen Access
High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation
PLoS ONE·2012· 25 citedOpen Access
A Novel Missense Mutation in Both OPN1LW and OPN1MW Cone Opsin Genes Causes X-Linked Cone Dystrophy (XLCOD5)
Advances in experimental medicine and biology·2011· 2 cited
X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins
The American Journal of Human Genetics·2010· 53 citedOpen Access
RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population
British Journal of Ophthalmology·2009· 28 cited
The Highly Disruptive Mutation L132P in the Keratin 12 Gene is Associated With an Unusually Severe Presentation of Meesmann Epithelial Corneal Dystrophy
2008· 1 cited
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function
American Journal of Medical Genetics Part A·2008· 3 citedOpen Access
Erratum
Ophthalmic Research·2008Open Access
Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function
American Journal of Medical Genetics Part A·2008· 47 cited
Phenotype Associated with the H626P Mutation and Other Changes in the <i>TGFBI</i> Gene in Czech Families
Ophthalmic Research·2008· 9 cited
Sequencing of the CHST6 gene in Czech macular corneal dystrophy patients supports the evidence of a founder mutation
British Journal of Ophthalmology·2007· 60 cited
Mutations in the<i>UBIAD1</i>Gene on Chromosome Short Arm 1, Region 36, Cause Schnyder Crystalline Corneal Dystrophy
Investigative Ophthalmology & Visual Science·2007· 104 cited
Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel
Journal of Medical Genetics·2007· 77 cited
Molecular analysis of the VSX1 gene in familial keratoconus.
PubMed·2007· 50 cited
Novel<i>SLC4A11</i>mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2)
Human Mutation·2007· 72 citedOpen Access
Novel mutations in theZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy
Human Mutation·2007· 75 citedOpen Access
Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients
Experimental Eye Research·2006· 56 cited
Further Information Regarding KERA and Recessive Cornea Plana—Reply
Archives of Ophthalmology·2006
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Frequent Co-authors

Alison J. Hardcastle(23), Shomi S. Bhattacharya(16), Petra Lišková(11), Stephen J. Tuft(9), Louise Ocaka(8), Mohamed F. El-Ashry(8), Martin Filipec(8), Kateřina Jirsová(7), Ordan J. Lehmann(6), Tim Jordan(6), Michael E. Cheetham(6), Mai M. Abd El-Aziz(6), Rhian Gwilliam(6), Roger A. Hitchings(5), Eamonn R. Maher(5), Anthony T. Moore(4), Tin Aung(4), Sue Povey(4), Peng T. Khaw(4), Linda Ficker(4)