Amna Z. Shah

发表

An application of a rule-based system towards resolving exception events of business processes within a small Virtual Organization

Robert I. M. Young, Rahul Swarnkar, Jennifer A. Harding, 2010 .

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa with Incomplete Penetrance

Amna Z. Shah, C. Rivolta, S. Bhattacharya, 2012, PLoS genetics.

Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular RPE Atrophy

Amna Z. Shah, C. Ponting, E. Zrenner, 2018 .

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Amna Z. Shah, H. Cordell, M. Simpson, 2020, PLoS genetics.

A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT

Amna Z. Shah, S. Bhattacharya, G. Alfano, 2013, Journal of molecular and genetic medicine : an international journal of biomedical research.

Identification of interacting protein partners of TOPORS in the retina

Amna Z. Shah, S. Bhattacharya, G. Alfano, 2013 .

Dominant PRPF31 Mutations Are Hypostatic to a Recessive CNOT3 Polymorphism in Retinitis Pigmentosa: A Novel Phenomenon of “Linked Trans-Acting Epistasis”

Amna Z. Shah, C. Rivolta, S. Bhattacharya, 2013, Annals of human genetics.

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

Amna Z. Shah, A. Chakravarti, C. Rivolta, 2016, Scientific Reports.

TOPORS, a Dual E3 Ubiquitin and Sumo1 Ligase, Interacts with 26 S Protease Regulatory Subunit 4, Encoded by the PSMC1 Gene

Amna Z. Shah, S. Bhattacharya, G. Alfano, 2016, PloS one.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Amna Z. Shah, C. Ponting, A. Swaroop, 2007, American journal of human genetics.

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.

Amna Z. Shah, A. Swaroop, U. Wolfrum, 2011, Human molecular genetics.

EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa

Leo Goodstadt, Amna Z. Shah, Chris P Ponting, 2008, Nature Genetics.

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Amna Z. Shah, S. Bhattacharya, G. Alfano, 2012, Human molecular genetics.

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease

Amna Z. Shah, R. Ali, Alexander J. Smith, 2019, bioRxiv.

Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease.

Amna Z. Shah, R. Ali, Alexander J. Smith, 2019, Human molecular genetics.

EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones

Amna Z. Shah, S. Bhattacharya, B. Kramarz, 2016, PloS one.

MSR1 repeats modulate gene expression and affect risk of breast and prostate cancer

Amna Z. Shah, A. Chakravarti, S. Chambers, 2018, Annals of oncology : official journal of the European Society for Medical Oncology.