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List of works by Colin E. Willoughby

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions

scientific article published on 16 January 2016

A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1

scientific article published on 09 February 2019

A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.

scientific article published on 30 September 2011

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.

scientific article

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

scientific article published on 30 September 2014

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis

scientific article published on 27 June 2012

Accurate, fast, data efficient and interpretable glaucoma diagnosis with automated spatial analysis of the whole cup to disc profile

scientific article published in PLoS ONE

Amniotic band syndrome associated with an atypical iris and optic nerve defect

scientific article published on 17 September 2013

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Angiographic and In Vivo Confocal Microscopic Characterization of Human Corneal Blood and Presumed Lymphatic Neovascularization: A Pilot Study.

scientific article published on 16 September 2015

Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli.

scientific article published on January 1993

Association of Genetic Variation With Keratoconus

scientific article published on 19 December 2019

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus

scientific article published on 31 October 2011

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

scientific article published in Nature Communications

Avoiding Complications Associated With Preloaded Ultrathin Descemet Stripping Automated Endothelial Keratoplasty

scientific article published on 01 April 2017

Bandage contact lens and topical steroids are risk factors for the development of microbial keratitis after epithelium-off CXL

article

Bilateral keratoconus in tuberous sclerosis: is there a molecular link?

scientific article published on 25 September 2012

CRYBB1 mutation associated with congenital cataract and microcornea

scientific article

CS gas ocular injury

scientific article published on 01 January 1998

Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies

scientific article published on 01 November 2002

Comparison of preservation and transportation protocols for preloaded Descemet membrane endothelial keratoplasty.

scientific article published on 13 November 2017

Corneal angiography for guiding and evaluating fine-needle diathermy treatment of corneal neovascularization.

scientific article published in April 2015

Corneal biomechanics and biomechanically corrected intraocular pressure in primary open-angle glaucoma, ocular hypertension and controls

scientific article published on 28 March 2019

Corneal endothelial dysfunction in Pearson syndrome

scientific article published on 21 September 2011

Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.

scientific article

Correction: Accurate, fast, data efficient and interpretable glaucoma diagnosis with automated spatial analysis of the whole cup to disc profile

scientific article published on 03 April 2019

Cross-Country Transportation Efficacy and Clinical Outcomes of Preloaded Large-Diameter Ultra-Thin Descemet Stripping Automated Endothelial Keratoplasty Grafts

scientific article published on 01 January 2019

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

scientific article

Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

scientific article published on September 2004

Deformation velocity imaging using optical coherence tomography and its applications to the cornea

scientific article published on 13 November 2017

Detecting Change in Conjunctival Hyperemia Using a Pixel Densitometry Index

scientific article published on 2 November 2017

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa

scientific article published on 29 June 2010

Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome.

scientific article published on 4 November 2011

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.

scientific article published in February 2002

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus ⬇️

scientific article published on 3 June 2014

Epstein-Barr virus (types 1 and 2) in the tear film in Sjogren's syndrome and HIV infection.

scientific article published in November 2002

Erratum: Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

article

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia

scientific article published in 2022

Facilitating a close interaction between basic, translational and clinical science: BMJ Open Ophthalmology

scientific article published on 06 September 2016

Femtosecond Laser-Assisted Lamellar Keratectomy for Corneal Opacities Secondary to Anterior Corneal Dystrophies: An Interventional Case Series

scientific article published on 27 October 2015

Further evidence for heredity of pterygium

scientific article published on 02 March 2016

Gene-based antiangiogenic applications for corneal neovascularization.

scientific article published on 25 October 2017

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

scientific article

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

scientific article published on 06 January 2013

High resolution corneal and single pulse imaging with line field spectral domain optical coherence tomography

scientific article published on 01 May 2016

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

scientific article published on 18 March 2014

Imaging of Corneal Neovascularization: Optical Coherence Tomography Angiography and Fluorescence Angiography

scientific article published on 01 March 2018

Improving precision for detecting change in the shape of the cornea in patients with keratoconus

scientific article published in Scientific Reports

In Vivo Early Corneal Biomechanical Changes After Corneal Cross-linking in Patients With Progressive Keratoconus.

scientific article published in December 2017

Infantile bilateral glaucoma in a child with ectodermal dysplasia.

scientific article

Influence of graft size on graft survival following Descemet stripping automated endothelial keratoplasty.

scientific article published on 12 January 2015

Intraspecific variation and sexual dimorphism in cranial and dental variables among higher primates and their bearing on the hominid fossil record.

scientific article

Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections

scientific article published on 10 September 2013

Keratoconus in 18 pairs of twins.

scientific article published on 8 June 2012

Lensectomy in the management of glaucoma in spherophakia

scientific article published on 01 June 2002

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

scientific article

Marginal corneal vascular arcades

scientific article

Method for Angiographically Guided Fine-Needle Diathermy in the Treatment of Corneal Neovascularization

scientific article published on 4 May 2016

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

scientific article published on 22 March 2002

Mitochondrial dysfunction and oxidative stress in corneal disease

scientific article

Mitochondrial dysfunction in glaucoma: understanding genetic influences.

scientific article

Modification of the tear function index and its use in the diagnosis of Sjögren's syndrome

scientific article

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.

scientific article

Monozygotic twins discordant for phacomatosis pigmentovascularis: evidence for the concept of twin spotting

scientific article published on 01 March 2010

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

scientific article published on 20 January 2020

Mutation altering the miR-184 seed region causes familial keratoconus with cataract

scientific article

Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa

scientific article published on 29 September 2014

Mutational analysis of MIR184 in sporadic keratoconus and myopia

scientific article published on 5 August 2013

Mutational screening of VSX1 in keratoconus patients from the European population.

scientific article published on 18 September 2009

Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.

scientific article published on 3 May 2013

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

scientific article

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

scientific article

Novel clinical features associated with Clouston syndrome

scientific article published on 05 June 2019

Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43)

scientific article published on 18 April 2008

Oral manifestations in a boy with X-linked reticulate pigmentary disorder.

scientific article published on 25 May 2012

Outcome of Descemet stripping automated endothelial keratoplasty in eyes with an Ahmed glaucoma valve.

scientific article published on 17 March 2017

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia

article

Pitfalls in the management of a child with mild haemophilia A and a traumatic hyphaema.

scientific article published in March 2000

Preparation of ultrathin grafts for Descemet-stripping endothelial keratoplasty with a single microkeratome pass.

scientific article

Reliability of the Effect of Artificial Anterior Chamber Pressure and Corneal Drying on Corneal Graft Thickness

scientific article published on 01 August 2015

Replication of the recessive STBMS1 locus but with dominant inheritance

scientific article published on 14 February 2009

Response to Iliff et?al.

scientific article

Simplifying collection of corneal specimens in cases of suspected bacterial keratitis.

scientific article

Targeting the NLRP3 Inflammasome in Glaucoma

scientific article published in 2021

The Relationship Between Mechanical Properties, Ultrastructural Changes, and Intrafibrillar Bond Formation in Corneal UVA/Riboflavin Cross-linking Treatment for Keratoconus

scientific article published in April 2018

The ocular phenotype of stiff-skin syndrome

scientific article

The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations

scientific article published on 01 January 1998

Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.

scientific article published on 18 September 2014

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