D. Mackay

发表

Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

B. J. Klevering, C. Klaver, B. Lorenz, 2013, Human mutation.

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

D. Mackay, T. Bennett, S. Culican, 2014, Human Genomics.

Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma

D. Mackay, T. Bennett, A. Shiels, 2014, PloS one.

Clinical and genetic heterogeneity in autosomal dominant cataract

S. Bhattacharya, A. Moore, P. Francis, 1999 .

RDH12 retinopathy: novel mutations and phenotypic description

Dorothy A. Thompson, G. Holder, S. Bhattacharya, 2011, Molecular vision.

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Dorothy A. Thompson, P. Sergouniotis, A. Webster, 2011, Investigative ophthalmology & visual science.

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

G. Holder, V. Plagnol, S. Mansour, 2016, JAMA ophthalmology.

Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa.

J. Flannery, K. Gregory-Evans, C. Gregory‐Evans, 2008, Experimental eye research.

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy

G. Holder, P. Sergouniotis, A. Webster, 2010, Molecular vision.

Biallelic mutation of Protocadherin-21 (PCDH21) causes retinal degeneration in humans

S. Bhattacharya, A. Webster, A. Moore, 2008, Molecular vision.

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.

S. Bhattacharya, A. Moore, D. Mackay, 1997, American journal of human genetics.

Connexin46 mutations linked to congenital cataract show loss of gap junction channel function.

E. Beyer, D. Mackay, L. Ebihara, 2000, American journal of physiology. Cell physiology.

Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin

S. Bhattacharya, P. Francis, S. Khaliq, 1999, Human Genetics.

Molecular mechanism underlying a Cx50-linked congenital cataract.

E. Beyer, D. Mackay, L. Ebihara, 1999, American journal of physiology. Cell physiology.

rapid communication Molecular mechanism underlying a Cx 50-linked congenital cataract

E. Beyer, D. Mackay, L. Ebihara, 1999 .

Molecular mechanism underlying a Cx50-linked congenital cataract.

E. Beyer, D. Mackay, L. Ebihara, 1999, The American journal of physiology.

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.

G. Holder, V. Plagnol, P. Sergouniotis, 2011, American journal of human genetics.

Encoding Group V Phospholipase A 2 , Cause Benign Fleck Retina

G. Holder, V. Plagnol, P. Sergouniotis, 2011 .

Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.

X. Jiao, J. Hejtmancik, R. Sperduto, 2003, Molecular vision.

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

R. Holt, E. Volpi, G. Holder, 2014, Ophthalmology.

A novel α-synuclein missense mutation in Parkinson disease

Christos Proukakis, Henry Houlden, A. Schapira, 2013, Neurology.

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

A. Stockman, C. Ripamonti, G. Holder, 2012, Investigative ophthalmology & visual science.

A locus for autosomal dominant posterior polar cataract on chromosome 1p.

S. Bhattacharya, A. Moore, D. Mackay, 1997, Human molecular genetics.

Connexin46 mutations in autosomal dominant congenital cataract.

S. Bhattacharya, S. Bhattacharya, G. Rouleau, 1999, American journal of human genetics.

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.

S. Bhattacharya, S. Bhattacharya, A. Moore, 1998, American journal of human genetics.

Disruption of lens fiber cell architecture in mice expressing a chimeric AQP0‐LTR protein

J. Kuszak, S. Bassnett, D. Mackay, 2000, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q

U. Andley, D. Mackay, A. Shiels, 2003, European Journal of Human Genetics.

Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2.

S. Bassnett, D. Mackay, A. Shiels, 2007, Investigative ophthalmology & visual science.

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1

Dorothy A. Thompson, G. Holder, P. Sergouniotis, 2010, British Journal of Ophthalmology.

Characterisation and Validation of Insertions and Deletions in 173 Patient Exomes

J. Hardy, M. Hubank, E. Stupka, 2012, PloS one.

A missense mutation in the γD crystallin gene ( CRYGD ) associated with autosomal dominant " coral-like " cataract linked to chromosome 2 q

U. Andley, D. Mackay, A. Shiels, 2014 .

A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q.

U. Andley, D. Mackay, A. Shiels, 2004, Molecular vision.

A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity

U. Wolfrum, K. Nagel-Wolfrum, V. Plagnol, 2013, Human mutation.

A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.

K. Tsubota, E. Stone, G. Holder, 2013, American journal of ophthalmology.

The clinical effect of homozygous ABCA4 alleles in 18 patients.

K. Tsubota, G. Holder, K. Tsunoda, 2013, Ophthalmology.

Clinical and genetic heterogeneity in autosomal dominant cataract.

S. Bhattacharya, A. Moore, P. Francis, 2009, The British journal of ophthalmology.

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Dorothy A. Thompson, R. MacLaren, M. Michaelides, 2012, PloS one.

Focus on molecules: retinol dehydrogenase 12 (RDH12).

D. Hunt, A. Moore, D. Mackay, 2008, Experimental eye research.

Focus on molecules: centrosomal protein 290 (CEP290).

A. Moore, M. Cheetham, W. L. Davies, 2011, Experimental eye research.

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

G. Holder, S. Bhattacharya, F. Alkuraya, 2010, Molecular vision.

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Human mutation.

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

G. Holder, P. Sergouniotis, M. Michaelides, 2009, American journal of human genetics.

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

V. Plagnol, P. Sergouniotis, A. Webster, 2011, American journal of human genetics.

Anterior polar cataract: Clinical spectrum and genetic linkage in a single family

S. Bhattacharya, A. Moore, D. Mackay, 1998, Eye.

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.

L. Game, F. Rüschendorf, A. Bloch-Zupan, 2007, Human molecular genetics.

NMNAT1 mutations cause Leber congenital amaurosis

Marni J. Falk, J. Sahel, E. Berson, 2012, Nature Genetics.

A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q.

D. Mackay, T. Bennett, A. Shiels, 2004, Molecular vision.

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

P. Sergouniotis, A. Webster, A. Moore, 2011, Investigative ophthalmology & visual science.

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma

D. Mackay, T. Bennett, A. Shiels, 2015, PloS one.

Novel mutations in the CYP4v2 gene associated with Bietti crystalline corneoretinal dystrophy

S. Halford, A. Webster, A. Moore, 2007 .

Focus on molecules: cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2).

S. Halford, D. Mackay, 2012, Experimental eye research.

Challenges to Routine Genetic Testing for Inherited Rod Dystrophies.

R. Rajagopal, R. Apte, D. Mackay, 2019, Ophthalmology.

A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.

K. Lampi, D. Mackay, A. Shiels, 2002, American journal of human genetics.

NMNAT 1 Mutations Cause Leber Congenital Amaurosis

Marni J. Falk, J. Sahel, E. Berson, 2013 .

A novel missense mutation in the gene for gap-junction protein α 3 ( GJA 3 ) associated with autosomal dominant “ nuclear punctate ” cataracts linked to chromosome 13 q

D. Mackay, T. Bennett, A. Shiels, 2004 .

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Human mutation.