Jing Yu

发表

Phenogenon: Gene to Phenotype Associations for Rare Genetic Diseases

Nikolas Pontikos, Ismail Moghul, C. Murphy, 2018, bioRxiv.

Databases and ontologies Pheno 4 J : a gene to phenotype graph database

N. Pontikos, Ismail Moghul, Jing Yu, 2017 .

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

S. Sisodiya, E. Baple, C. Inglehearn, 2022, Journal of Medical Genetics.

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

S. Halford, P. Clouston, R. MacLaren, 2022, Genes.

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa

S. Halford, F. Raymond, K. Carss, 2018, Molecular vision.

Unravelling the genetics of inherited retinal dystrophies: Past, present and future

S. Halford, S. Downes, Jing Yu, 2017, Progress in Retinal and Eye Research.

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Peter M. G. Munro, G. Holder, V. Plagnol, 2016, American journal of human genetics.

Cloud-based genomics pipelines for ophthalmology: reviewed from research to clinical practice

P. Keane, K. Balaskas, N. Pontikos, 2021, Modeling and Artificial Intelligence in Ophthalmology.

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

Stephanie Halford, Julius O. B. Jacobsen, Daniel Greene, 2017, Bioinform..

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Alex Henderson, Jing Yu, Alex Magee, 2017, American journal of human genetics.

An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story

S. Halford, S. Downes, Jing Yu, 2021, Genes.

The role of multimodal imaging and vision function testing in ABCA4-related retinopathies and their relevance to future therapeutic interventions

S. Halford, S. Downes, Jing Yu, 2021, Therapeutic advances in ophthalmology.

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis

S. Halford, S. Downes, A. Nemeth, 2021, Ophthalmic genetics.

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

S. Halford, P. Clouston, R. MacLaren, 2020, JAMA ophthalmology.

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen

Rachel L. Taylor, S. Halford, V. Plagnol, 2019, Ophthalmology.

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Stephanie Halford, Julius O. B. Jacobsen, Susan M. Downes, 2016, bioRxiv.

The genetic landscape of crystallins in congenital cataract

Nikolas Pontikos, M. Michaelides, A. Moore, 2020, Orphanet Journal of Rare Diseases.

A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

A. Pagnamenta, D. Baralle, Jenny C. Taylor, 2023, Human Mutation.

Phenogenon: Gene to phenotype associations for rare genetic diseases

Nikolas Pontikos, Ismail Moghul, C. Murphy, 2020, PloS one.

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1

A. Pagnamenta, S. Mehta, Jenny C. Taylor, 2022, Journal of Medical Genetics.

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project

A. Pagnamenta, Jenny C. Taylor, A. Offiah, 2023, Journal of Medical Genetics.