Zheng Li

发表

RDH12 retinopathy: novel mutations and phenotypic description

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

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

K. Steel, M. Bitner-Glindzicz, A. Coffey, 2015, European Journal of Human Genetics.

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.

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 .

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

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

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

G. Holder, P. Sergouniotis, A. Webster, 2011, Ophthalmology.

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

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

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.

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

G. Holder, P. Sergouniotis, A. Webster, 2012, Acta ophthalmologica.

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.

A Novel TIMP3 Mutation and in vivo Imaging of a Family With Sorsby Fundus Dystrophy

A. Webster, S. Ramsden, N. Mckie, 2006 .

Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).

Michel Michaelides, G. Holder, M. Michaelides, 2010, Ophthalmology.

Novel mutations and electrophysiological findings in RGS9 and R9AP associated retinal dysfunction (Bradyopsia)

G. Holder, M. Michaelides, A. Webster, 2009 .