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Author Details

Jamie M Ellingford
University of Manchester
2015
48
17
PMIDPaper TitleJournal TitlePublished Year
36084042Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.Hum Mol Genet2023
37745552Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.medRxiv2023
36442995Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.J Med Genet2023
36669873EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.J Med Genet2023
35934205Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.Ophthalmology2023
34713892Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.Clin Genet2022
35584218A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.Sci Adv2022
35633130Clinical and genetic findings in TRPM1-related congenital stationary night blindness.Acta Ophthalmol2022
35850704Recommendations for clinical interpretation of variants found in non-coding regions of the genome.Genome Med2022
35986704Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.Br J Dermatol2022
33910932<i>BBS1</i> branchpoint variant is associated with non-syndromic retinitis pigmentosa.J Med Genet2022
33879512Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.J Med Genet2022
33766936Improving the clinical interpretation of missense variants in X linked genes using structural analysis.J Med Genet2022
33763779Extended gene panel testing in lobular breast cancer.Fam Cancer2022
33758026High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.J Med Genet2022
35065709MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.Am J Hum Genet2022
34716235Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.J Med Genet2022
33353976Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.Genet Med2021
33729154Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission.Elife2021
33549858A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak.J Mol Diagn2021
34439310Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior <i>BRCA1/2</i> Probability.Cancers (Basel)2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34125159North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.Invest Ophthalmol Vis Sci2021
33957466High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.Cancer Genet2021
34113003Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer.Genet Med2021
32176120Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.Otol Neurotol2020
31836858Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.Eur J Hum Genet2020
32050448Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.Genes (Basel)2020
31848469Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.Genet Med2020
33137882Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance.Genes (Basel)2020
32313206Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.Eur J Hum Genet2020
31719542Clinical and genetic variability in children with partial albinism.Sci Rep2019
31779139Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.Cells2019
29074561Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.J Med Genet2018
30075112A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.Am J Hum Genet2018
27551809Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.Clin Exp Ophthalmol2017
28488341Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.Clin Exp Ophthalmol2017
28341476Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.Ophthalmology2017
28129423Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.Invest Ophthalmol Vis Sci2017
28378820Validation of copy number variation analysis for next-generation sequencing diagnostics.Eur J Hum Genet2017
27678338Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma.Acta Ophthalmol2017
25688670A novel mutation in IL36RN underpins childhood pustular dermatosis.J Eur Acad Dermatol Venereol2016
28173158Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.Hum Mol Genet2016
27628848The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.Orphanet J Rare Dis2016
27208204Molecular findings from 537 individuals with inherited retinal disease.J Med Genet2016
26872967Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.Ophthalmology2016
26789649Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.Am J Med Genet A2016
25987160Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.Lancet2015
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Collaborators

Graeme C M Black
Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
Co-authored papers 29
Panagiotis I Sergouniotis
University of Manchester
Co-authored papers 19
Georgina Hall
The University of Melbourne, The Royal Children's Hospital
Co-authored papers 9
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 9
Sofia Douzgou
Haukeland University Hospital
Co-authored papers 8
Gavin Arno
Institute of Ophthalmology, University College London
Co-authored papers 6
Siddharth Banka
University of Manchester
Co-authored papers 5
Michel Michaelides
Institute of Ophthalmology, University College London
Co-authored papers 5
Andrew R Webster
Institute of Ophthalmology, University College London
Co-authored papers 5
Huw B Thomas
University of Manchester
Co-authored papers 3
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 3
Raymond T O'Keefe
University of Manchester
Co-authored papers 3
Dalia Kasperaviciute
Genomics England Ltd.
Co-authored papers 3
Carlo Rivolta
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Co-authored papers 2
Jenny C Taylor
University of Oxford
Co-authored papers 2
Anthony T Moore
UCL Institute of Ophthalmology, University College London
Co-authored papers 2
Carel B Hoyng
Radboud University Medical Center
Co-authored papers 2
Sian Ellard
Royal Devon University Healthcare NHS Foundation Trust
Co-authored papers 2
Helen Brittain
Queen Mary University of London
Co-authored papers 2
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 2
Damian Smedley
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Andrea H N??meth
University of Oxford
Co-authored papers 2
Charu Deshpande
Guy's Hospital
Co-authored papers 2
Martin McKibbin
Leeds Teaching Hospitals NHS Trust
Co-authored papers 2
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 2
Katherine R Smith
Walter and Eliza Hall Institute of Medical Research
Co-authored papers 2
Hoai Viet Tran
University Eye Hospital Jules Gonin
Co-authored papers 1
Anna de Burca
Oxford University Hospitals NHS Foundation Trust
Co-authored papers 1
Alison Meynert
Institute of Genetics and Cancer, University of Edinburgh
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