P. Clouston

发表

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

C. Yau, G. Mirza, J. Ragoussis, 2007, Nucleic acids research.

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

John Broxholme, Jiannis Ragoussis, Mark W Hankins, 2012, European Journal of Human Genetics.

Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200.

P. Charbel Issa, P. Clouston, R. MacLaren, 2019, JAMA ophthalmology.

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

John Broxholme, Jiannis Ragoussis, Mark W Hankins, 2013, European Journal of Human Genetics.

Envisioning the development of a CRISPR-Cas mediated base editing strategy for a patient with a novel pathogenic CRB1 single nucleotide variant

P. Clouston, R. MacLaren, M. McClements, 2022, Ophthalmic genetics.

Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

P. Clouston, A. Seller, S. Downes, 2012, Archives of ophthalmology.

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

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

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

J. Hurst, P. Clouston, E. Giannoulatou, 2022, bioRxiv.

A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris

P. Clouston, R. MacLaren, J. Cehajic-Kapetanovic, 2020, Ophthalmic genetics.

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

S. Halford, P. Clouston, S. Downes, 2021, BMC Ophthalmology.

Novel non‐contiguous exon duplication in choroideremia

P. Clouston, R. MacLaren, J. Williams, 2018, Clinical genetics.

Novel non-contiguous exon duplication in choroideremia 1

MacLaren, P. Clouston, M. Simunovic, 2017 .

Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes

P. Clouston, R. MacLaren, M. Shanks, 2019, Ocular immunology and inflammation.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

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

Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose.

P. Clouston, K. Xue, R. MacLaren, 2019, JAMA ophthalmology.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Mark T. Handley, I. Temple, P. Clouston, 2016, American journal of human genetics.

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

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

Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration

P. Charbel Issa, P. Clouston, R. MacLaren, 2019, JAMA network open.

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

S. Halford, P. Clouston, S. Downes, 2020, Genes.

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

David Sims, Andrea H. Németh, Yvonne Wallis, 2017, American journal of human genetics.

Electrophysiological verification of enhanced S-cone syndrome caused by a novel c.755T>C NR2E3 missense variant

P. Charbel Issa, P. Clouston, R. MacLaren, 2018, Ophthalmic genetics.

A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia

P. Clouston, R. MacLaren, M. Shanks, 2018, Ophthalmic genetics.

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL

S. Halford, P. Clouston, R. MacLaren, 2020, Genes.

Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy

P. Clouston, R. MacLaren, J. Cehajic-Kapetanovic, 2022, American journal of ophthalmology case reports.

MERTK missense variants in three patients with retinitis pigmentosa

P. Charbel Issa, P. Clouston, R. MacLaren, 2022, Ophthalmic genetics.

Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.

P. Clouston, R. MacLaren, J. Cehajic-Kapetanovic, 2020, JAMA ophthalmology.

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases

P. Clouston, R. MacLaren, S. Downes, 2020, Ophthalmic genetics.

Exploring the Variable Phenotypes of RPGR Carrier Females in Assessing Their Potential for Retinal Gene Therapy

P. Clouston, R. MacLaren, S. Downes, 2018, Genes.

The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy.

P. Clouston, R. MacLaren, M. Shanks, 2019, American journal of ophthalmology.

Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene

P. Clouston, R. MacLaren, M. Shanks, 2018, Ophthalmic genetics.

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Esther B. E. Becker, P. Clouston, H. Houlden, 2017, American Journal of Human Genetics.

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

Esther B. E. Becker, P. Clouston, H. Houlden, 2017, American journal of human genetics.

“Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS”

S. Halford, P. Clouston, R. MacLaren, 2020, Eye.

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation

S. Halford, P. Clouston, S. Downes, 2023, Genes.

Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989

J. Ragoussis, R. Copley, D. Evans, 2013, European Journal of Human Genetics.

Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD)

J. Ragoussis, R. Copley, Jenny C. Taylor, 2011 .

Atypical choroideremia presenting with early‐onset macular atrophy

P. Clouston, K. Xue, R. MacLaren, 2019, Acta ophthalmologica.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

C. Shaw-Smith, P. Clouston, T. Dabir, 2023, Movement disorders : official journal of the Movement Disorder Society.