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J. Ellingford · SciRah

Researcher profile · Semantic Scholar

J. Ellingford

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J. Ellingford — researcher profile on SciRah

h-index: 25
Works: 82
Citations: 2,393

Most-cited papers

Recommendations for clinical interpretation of variants found in non-coding regions of the genome
J. Ellingford, J. Ahn, R. Bagnall, D. Baralle +23 more
2021Genome Medicine230 citations Open access
Semantic Scholar
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report
D. Smedley, Katherine R. Smith, A. Martin, E. Thomas +193 more
2021New England Journal of Medicine179 citations Open access
Semantic Scholar
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
J. Ellingford, S. Barton, S. Bhaskar, S. Williams +14 more
2016Ophthalmology (Rochester, Minn.)165 citations Open access
Semantic Scholar
Molecular findings from 537 individuals with inherited retinal disease
J. Ellingford, S. Barton, S. Bhaskar, J. O'Sullivan +12 more
2016Journal of Medical Genetics152 citations Open access
Semantic Scholar
A basement membrane discovery pipeline uncovers network complexity, new regulators, and human disease associations
Ranjay Jayadev, M. Morais, J. Ellingford, Sandhya Srinivasan +17 more
2021bioRxiv138 citations Open access
Semantic Scholar
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, A. Ljungdahl +115 more
2024Nature122 citations Open access
Semantic Scholar
Validation of copy number variation analysis for next-generation sequencing diagnostics
J. Ellingford, Christopher Campbell, S. Barton, S. Bhaskar +11 more
2017European Journal of Human Genetics88 citations Open access
Semantic Scholar
A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer
D. Evans, E. V. van Veen, H. Byers, A. Wallace +8 more
2018American Journal of Human Genetics85 citations Open access
Semantic Scholar
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.
A. Belot, G. Rice, S. Omarjee, Quentin Rouchon +38 more
2020The Lancet Rheumatology75 citations Open access
Semantic Scholar
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
R. Taylor, N. Parry, S. Barton, Christopher Campbell +16 more
2017Ophthalmology (Rochester, Minn.)64 citations
Semantic Scholar
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
J. Ellingford, B. Horn, Christopher Campbell, G. Arno +11 more
2017Journal of Medical Genetics63 citations Open access
Semantic Scholar
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
E. Lenassi, J. Clayton-Smith, S. Douzgou, S. Ramsden +14 more
2019Genetics in Medicine58 citations Open access
Semantic Scholar
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Charlie F. Rowlands, Huw B. Thomas, J. Lord, H. Wai +76 more
2020Scientific Reports55 citations Open access
Semantic Scholar
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing
Charlie F. Rowlands, D. Baralle, J. Ellingford
2019Cells48 citations Open access
Semantic Scholar
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration
A. Vig, J. Poulter, D. Ottaviani, E. Tavares +100 more
2020Genetics in Medicine42 citations Open access
Semantic Scholar
Clinical and genetic variability in children with partial albinism
P. Campbell, J. Ellingford, N. Parry, T. Fletcher +13 more
2019Scientific Reports42 citations Open access
Semantic Scholar
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Nicola Bedoni, L. Haer-Wigman, V. Vaclavik, Viet H. Tran +27 more
2016Human Molecular Genetics41 citations Open access
Semantic Scholar
Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission
J. Ellingford, R. George, J. McDermott, Shazaad Ahmad +6 more
2021eLife38 citations Open access
Semantic Scholar
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
J. Ellingford, P. Sergouniotis, R. Lennon, S. Bhaskar +8 more
2015The Lancet32 citations Open access
Semantic Scholar
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
O. A. Jiman, R. Taylor, E. Lenassi, Jill Clayton Smith +11 more
2019European Journal of Human Genetics31 citations Open access
Semantic Scholar
The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision
Paul W Chrystal, N. Lambacher, Lance P. Doucette, J. Bellingham +85 more
2022Nature Communications30 citations Open access
Semantic Scholar
Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders
L. Molina-Ramírez, Claire Kyle, J. Ellingford, R. Wright +24 more
2021Journal of Medical Genetics30 citations Open access
Semantic Scholar
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature
R. Taylor, Mark T. Handley, S. Waller, Christopher Campbell +11 more
2017Investigative Ophthalmology and Visual Science28 citations Open access
Semantic Scholar
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families
J. Urquhart, R. Roberts, D. D. de Silva, S. Shalev +10 more
2016American Journal of Medical Genetics. Part A28 citations
Semantic Scholar
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations
Ranjay Jayadev, M. Morais, J. Ellingford, Sandhya Srinivasan +17 more
2022Science Advances26 citations Open access
Semantic Scholar
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
A. Jackson, Nishi Thaker, A. Blakes, Gillian I. Rice +19 more
2025Nature Genetics25 citations Open access
Semantic Scholar
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
M. Varela, J. Bellingham, F. Motta, Neringa Jurkute +19 more
2022Human Molecular Genetics25 citations Open access
Semantic Scholar
A BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
Zeinab Fadaie, Laura Whelan, Adrian Dockery, Catherina H. Z. Li +12 more
2021Journal of Medical Genetics23 citations Open access
Semantic Scholar
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer
D. Evans, E. V. van Veen, H. Byers, S. J. Evans +14 more
2021Journal of Medical Genetics22 citations Open access
Semantic Scholar
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Eva Niggl, A. Bouman, L. Briere, R. Hoogenboezem +34 more
2023American Journal of Human Genetics21 citations Open access
Semantic Scholar
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
Charlie F. Rowlands, Algy Taylor, G. Rice, N. Whiffin +9 more
2022American Journal of Human Genetics20 citations Open access
Semantic Scholar
Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
J. Ellingford, Huw B. Thomas, Charlie F. Rowlands, G. Arno +15 more
2019bioRxiv20 citations Open access
Semantic Scholar
A novel mutation in IL36RN underpins childhood pustular dermatosis
J. Ellingford, G. Black, T. Clayton, M. Judge +2 more
2015Journal of the European Academy of Dermatology and Venereology20 citations Open access
Semantic Scholar
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders
D. J. Green, Shalaw R. Sallah, J. Ellingford, S. Lovell +1 more
2020bioRxiv19 citations Open access
Semantic Scholar
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
Sunayna K. Best, J. Lord, Matthew Roché, C. Watson +11 more
2021Journal of Medical Genetics18 citations Open access
Semantic Scholar
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar
Shalaw R. Sallah, P. Sergouniotis, S. Barton, S. Ramsden +7 more
2020European Journal of Human Genetics18 citations Open access
Semantic Scholar
Next‐generation sequencing targeted disease panel in rod‐cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation
A. Vincent, N. Abeysekera, K. V. van Bysterveldt, V. F. Oliver +3 more
2017Clinical and Experimental Ophthalmology18 citations
Semantic Scholar
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity
P. Sergouniotis, S. Barton, S. Waller, R. Perveen +8 more
2016Orphanet Journal of Rare Diseases18 citations Open access
Semantic Scholar
Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome *
Yan-shan Liu, S. Banka, Yingzhi Huang, J. Hardman-Smart +28 more
2022British Journal of Dermatology17 citations Open access
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +166 more
2025medRxiv16 citations Open access
Semantic Scholar
North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants
D. J. Green, E. Lenassi, C. Manning, David M. McGaughey +4 more
2021Investigative Ophthalmology and Visual Science15 citations Open access
Semantic Scholar
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, S. Stenton +93 more
2024medRxiv14 citations Open access
Semantic Scholar
Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene.
Samar Yahya, Claire El Smith, J. Poulter, M. Mckibbin +14 more
2022Ophthalmology (Rochester, Minn.)14 citations Open access
Semantic Scholar
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancer
E. Woodward, E. V. van Veen, C. Forde, E. Harkness +12 more
2021Genetics in Medicine14 citations Open access
Semantic Scholar
Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance
J. Ellingford, R. Hufnagel, G. Arno
2020Genes14 citations Open access
Semantic Scholar
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
L. Molina-Ramírez, E. Lenassi, J. Ellingford, P. Sergouniotis +3 more
2020Otology and Neurotology14 citations Open access
Semantic Scholar
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
M. Quinodoz, K. Rodenburg, Zuzana Cvačková, Karolina Kaminska +184 more
2026Nature Genetics11 citations Open access
Semantic Scholar
Clinical and genetic findings in TRPM1‐related congenital stationary night blindness
Christos Iosifidis, Jingshu Liu, Theodora Gale, J. Ellingford +6 more
2022Acta ophthalmologica11 citations Open access
Semantic Scholar
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
Thomas B. Smith, R. Kopajtich, L. Demain, Alessandro Rea +35 more
2024American Journal of Human Genetics9 citations Open access
Semantic Scholar
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome
Katherine A. Wood, J. Ellingford, Huw B. Thomas, S. Douzgou +5 more
2021Clinical Genetics9 citations Open access
Semantic Scholar

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