J. Morgan

发表

Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens

K. Maclennan, D. Adams, G. Taylor, 2010, Nucleic acids research.

Next-generation sequencing identifies germline MRE11A variants as markers of radiotherapy outcomes in muscle-invasive bladder cancer

T. Ørntoft, J. Barrett, A. Kiltie, 2014, Annals of oncology : official journal of the European Society for Medical Oncology.

Genetic diagnosis of familial breast cancer using clonal sequencing

Eamonn Sheridan, Graham R Taylor, D. Bonthron, 2010, Human mutation.

A computational index derived from whole-genome copy number analysis is a novel tool for prognosis in early stage lung squamous cell carcinoma.

K. Maclennan, S. Berri, O. Belvedere, 2012, Genomics.

Next-generation sequencing identi ﬁ es germline MRE11A variants as markers of radiotherapy outcomes in muscle-invasive bladder cancer

T. Ørntoft, J. Barrett, A. Kiltie, 2014 .

Complement C3 variant and the risk of age-related macular degeneration.

I. Deary, D. Clayton, A. Bird, 2007, The New England journal of medicine.

Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.

S. Cross, I. Jackson, J. Morgan, 2004, Human molecular genetics.

Haploinsufficiency for Phox 2 b in mice causes dilated pupils and atrophy of the ciliary ganglion : mechanistic insights into human congenital central hypoventilation syndrome

S. Cross, I. Jackson, J. Morgan, 2004 .

SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout

William A. Richardson, N. Gray, P. Rudan, 2008, Nature Genetics.

Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant-Filtering Interface

Laura A. Crinnion, D. Bonthron, G. Taylor, 2013, Human mutation.

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

Colin A. Johnson, G. Taylor, M. Barron, 2012, American journal of human genetics.

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects

Colin A. Johnson, G. Taylor, M. Mohamed, 2011, Human molecular genetics.

Novel ENU-induced eye mutations in the mouse: models for human eye disease.

Steve D. M. Brown, S. Cross, I. Jackson, 2002, Human molecular genetics.

Targeted Sequencing of 10,198 Samples Confirms Abnormalities in Neuronal Activity and Implicates Voltage-Gated Sodium Channels in Schizophrenia Pathogenesis

G. Kirov, M. Gill, M. Owen, 2019, Biological Psychiatry.

Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders

M. Owen, M. O’Donovan, M. Hill, 2018, Genome Biology.

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia

G. Kirov, M. Owen, M. O’Donovan, 2019, Nature Neuroscience.

Analyses of rare and common alleles in parent-proband trios implicate rare missense variants in SLC6A1 in schizophrenia and confirm the involvement of loss of function intolerant and neurodevelopmental disorder genes

G. Kirov, M. Owen, P. Holmans, 2019, bioRxiv.

Analyses of de novo and common alleles implicate rare missense variants in SLC6A1 in schizophrenia

G. Kirov, M. Owen, P. Holmans, 2019 .

Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

D. Bonthron, F. Alkuraya, A. Markham, 2013, Human mutation.

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing

I. Xenarios, L. Jones, Evgeniya Trofimenko, 2022, bioRxiv.

Repeat Detector: accurate, efficient, and flexible sizing of expanded CAG/CTG repeats from targeted DNA sequencing

I. Xenarios, L. Jones, Evgeniya Trofimenko, 2022 .

Next-generation sequencing for simultaneous determination of human papillomavirus load, subtype, and associated genomic copy number changes in tumors.

K. Maclennan, G. Taylor, S. Berri, 2012, The Journal of molecular diagnostics : JMD.

Association between schizophrenia and both loss of function and missense mutations in paralog conserved sites of voltage-gated sodium channels

G. Kirov, M. Gill, M. Owen, 2018, bioRxiv.

Targeted Sequencing of 10 , 198 Schizophrenia Samples

G. Kirov, A. Corvin, A. Pocklington, 2022 .

Wa5 is a novel ENU-induced antimorphic allele of the epidermal growth factor receptor

S. Cross, I. Jackson, D. Threadgill, 2004, Mammalian Genome.

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.

Colin A. Johnson, G. Taylor, J. Craig, 2011, American journal of human genetics.

Complement C 3 Variant and the Risk of Age-Related Macular Degeneration

I. Deary, D. Clayton, A. Bird, 2007 .

Comparison of mouse models reveals the molecular bases for psychotic illness in Prader-Willi syndrome

Jennifer R. Davies, T. Humby, J. Morgan, 2021 .

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

S. Cross, I. Jackson, S. Bhattacharya, 2006, Human molecular genetics.

Comparison of mouse models reveals a molecular distinction between psychotic illness in PWS and schizophrenia

Jennifer R. Davies, T. Humby, J. Morgan, 2021, bioRxiv.

Next-generation sequencing identifies germline MRE11A variants as markers of radiotherapy outcomes in muscle-invasive bladder cancer.

T. Ørntoft, J. Barrett, A. Kiltie, 2014 .

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

Colin A. Johnson, D. Bonthron, G. Taylor, 2012, Human mutation.

Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing

Colin A. Johnson, G. Taylor, M. McKibbin, 2014, PloS one.

CSF-resident CD4+ T-cells display a distinct gene expression profile with relevance to immune surveillance and multiple sclerosis

N. Bray, J. Morgan, N. Robertson, 2021, Brain communications.

Mutation Detection by Clonal Sequencing of PCR Amplicons and Grouped Read Typing is Applicable to Clinical Diagnostics

Lucy F. Stead, G. Taylor, P. Quirke, 2013, Human mutation.

Genotype – Phenotype Correlation of Mouse Pde 6 b Mutations

S. Cross, I. Jackson, J. Morgan, 2005 .

Genotype-phenotype correlation of mouse pde6b mutations.

S. Cross, I. Jackson, J. Morgan, 2005, Investigative ophthalmology & visual science.

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule

P. Holmans, M. Owen, C. Tysoe, 2002, Journal of medical genetics.

Illuminator, a desktop program for mutation detection using short-read clonal sequencing.

D. Bonthron, G. Taylor, A. Markham, 2011, Genomics.