M. Shanks

发表

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Jiannis Ragoussis, Andrea H. Németh, David Buck, 2013, Brain : a journal of neurology.

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.

Complex germline and somatic mutation processes at a haploid human minisatellite shown by single-molecule analysis

P. Balaresque, M. Jobling, C. A. May, 2008, Mutation research.

The effects of in utero irradiation on mutation induction and transgenerational instability in mice.

R. Hardwick, Y. Dubrova, M. Shanks, 2009, Mutation research.

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.

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

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

A mini-library of sequenced human DNA fragments: linking bench experiments with informatics

R. Dalgleish, M. Shanks, Nicola J. Butler, 2012 .

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 .

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

R. Copley, R. Foster, M. Hankins, 2012, Genetics in Medicine.

Mutational dynamics of a haploid y-specific minisatellite

Morag E. Shanks, M. Shanks, 2006 .

Getting rhythm: how do babies do it?

N. Taub, E. Rosato, M. Shanks, 2014, Archives of Disease in Childhood: Fetal and Neonatal Edition.

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.

Thomas Jefferson's Y chromosome belongs to a rare European lineage.

P. Balaresque, M. Jobling, Georgina R. Bowden, 2007, American journal of physical anthropology.

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.

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.

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.

“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 .

Stage-specificity of spontaneous mutation at a tandem repeat DNA locus in the mouse germline.

Y. Dubrova, L. Riou, M. Shanks, 2008, Mutation research.

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.