C. Watson

发表

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data

Laura A. Crinnion, D. Bonthron, A. Markham, 2015, Human mutation.

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

T. Cullup, L. Jenkins, H. Mitchison, 2019, Journal of Medical Genetics.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American journal of human genetics.

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Laura A. Crinnion, D. Bonthron, A. Antanaviciute, 2016, BMC Medical Genetics.

Practice guidelines for Targeted Next Generation Sequencing Analysis and Interpretation

S. Ellard, Z. Deans, C. Mattocks, 2014 .

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

D. Sharon, M. McKibbin, C. Inglehearn, 2015, JAMA ophthalmology.

Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome

D. Bonthron, I. Carr, C. Gardiner, 2020, Human mutation.

Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease

Laura A. Crinnion, S. O'Riordan, S. Savic, 2022, Genes & Immunity.

Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications

Laura A. Crinnion, D. Bonthron, I. Carr, 2019, Laboratory Investigation.

Diagnostic whole genome sequencing and split‐read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome

Laura A. Crinnion, D. Bonthron, I. Carr, 2014, American journal of medical genetics. Part A.

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

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

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

Colin A. Johnson, P. Scambler, R. Roepman, 2017, Human molecular genetics.

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK

F. Cremers, M. McKibbin, C. Inglehearn, 2023, Genes.

Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions

Laura A. Crinnion, D. Bonthron, H. Lindsay, 2020, Laboratory Investigation.

SVCurator: A Crowdsourcing app to visualize evidence of structural variants for the human genome

Daniel Blankenberg, Lesley M Chapman, Noah Spies, 2019, bioRxiv.

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.

Diagnosis of copy number variation by Illumina next generation sequencing is comparable in performance to oligonucleotide array comparative genomic hybridisation.

G R Taylor, G. Taylor, S. Berri, 2013, Genomics.

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development

Laura A. Crinnion, D. Bonthron, Z. Molnár, 2017, PloS one.

Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms

M. Knowles, C. Hurst, G. Burghel, 2015, BioMed research international.

m6aViewer: software for the detection, analysis, and visualization of N6-methyladenosine peaks from m6A-seq/ME-RIP sequencing data

Ian M. Carr, Alexander F. Markham, Adrian Whitehouse, 2017, RNA.

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.

Detection of somatic mutations in tumors using unaligned clonal sequencing data

Laura A. Crinnion, D. Bonthron, P. Quirke, 2014, Laboratory Investigation.

Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand.

Bjarni V. Halldórsson, A. Hofman, A. Uitterlinden, 2009, Arthritis and rheumatism.

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

M. Bonin, M. McKibbin, C. Inglehearn, 2015, Molecular vision.

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome

Laura A. Crinnion, D. Bonthron, A. Antanaviciute, 2016, PloS one.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American Journal of Human Genetics.

University of Dundee DNAAF 1 links heart laterality with the AAA + ATPase RUVBL 1 and ciliary intraflagellar transport

Colin A. Johnson, P. Scambler, R. Roepman, 2017 .

Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects

Laura A. Crinnion, D. Bonthron, Lijia Huang, 2018, bioRxiv.

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization

Ian M. Carr, Alexander F. Markham, Agne Antanaviciute, 2015, Bioinform..

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies

Laura A. Crinnion, M. McKibbin, C. Inglehearn, 2023, Molecular genetics & genomic medicine.

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

Colin A. Johnson, H. Brittain, C. Inglehearn, 2021, Journal of Medical Genetics.

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy.

D. Bonthron, O. Howes, N. Brandon, 2016, American journal of human genetics.

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia

Laura A. Crinnion, D. Bonthron, M. Newbould, 2016, Journal of Medical Genetics.

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

M. Schmidts, R. Patel-King, A. Bush, 2017, Thorax.

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

C. Toro, C. Gustafsson, L. Wolfe, 2023, EMBO molecular medicine.

Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.

Laura A. Crinnion, P. Beighton, W. Newman, 2015, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.

Long-read nanopore sequencing enables accurate confirmation of a recurrent PMS2 insertion-deletion variant located in a region of complex genomic architecture.

Laura A. Crinnion, D. Bonthron, J. Adlard, 2021, Cancer genetics.

Characterization and Genomic Localization of a SMAD4 Processed Pseudogene.

Laura A. Crinnion, D. Bonthron, A. Markham, 2017, The Journal of molecular diagnostics : JMD.

Genomic Localization of a SMAD 4 Processed Pseudogene

Laura A. Crinnion, A. Markham, A. Antanaviciute, 2017 .

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.

Long-read sequencing to resolve the parent of origin of a de novo pathogenic UBE3A variant

Laura A. Crinnion, D. Bonthron, E. Sheridan, 2022, Journal of Medical Genetics.

Explorer Concordant Association of Insulin Degrading Enzyme Gene ( IDE ) Variants with IDE mRNA , A beta , and Alzheimer ' s Disease

V. Pankratz, R. Petersen, D. Dickson, 2017 .

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.

Structure of Ubiquitin-fold Modifier 1-specific Protease UfSP2*

Keiji Tanaka, M. Komatsu, Y. Jeon, 2011, The Journal of Biological Chemistry.

Long-Read Nanopore Sequencing of RPGR ORF15 is Enhanced Following DNase I Treatment of MinION Flow Cells

Laura A. Crinnion, M. McKibbin, C. Inglehearn, 2023, Molecular Diagnosis & Therapy.

Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.

Laura A. Crinnion, D. Bonthron, M. Care, 2023, Journal of clinical immunology.

A crowdsourced set of curated structural variants for the human genome

Daniel Blankenberg, Chun Shen Lim, Lesley M Chapman, 2020, PLoS Comput. Biol..

Haplotyping Using Long-Range PCR and Nanopore Sequencing of Phase Variants; Lessons Learned From the ABCA4 Locus.

Laura A. Crinnion, M. McKibbin, C. Inglehearn, 2023, Laboratory investigation; a journal of technical methods and pathology.

An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities

Laura A. Crinnion, D. Bonthron, C. Watson, 2019, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

GeneTIER: prioritization of candidate disease genes using tissue-specific gene expression profiles

Catherine Daly, Ian M. Carr, Alexander F. Markham, 2015, Bioinform..

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

Laura A. Crinnion, D. Bonthron, C. Inglehearn, 2015, Molecular genetics & genomic medicine.

Long‐read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis

Laura A. Crinnion, D. Bonthron, C. Watson, 2022, Prenatal diagnosis.

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

C. Inglehearn, A. Mighell, A. Antanaviciute, 2023, Journal of medical genetics.

Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.

A. Mighell, C. Watson, C. Brown, 2023, Journal of dental research.