Jamie Ellingford - Dissemin

Dissemin is shutting down on January 1st, 2025

Language
Login

All papers authored by Jamie Ellingford

This paper was not found in any repository, but could be made available legally by the author.

2022 Charlie F. Rowlands

ORCID

, Algy Taylor, Gillian Rice, Nicola Whiffin

ORCID

, Hildegard Nikki Hall

ORCID

, William G. Newman

ORCID

, Graeme C. M. Black, Raymond T. O’Keefe, Simon Hubbard

ORCID

, Andrew G. L. Douglas, Diana Baralle

ORCID

, Tracy A. Briggs

ORCID

, Jamie M. Ellingford

ORCID

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

Upload

This paper was not found in any repository, but could be made available legally by the author.

2021 Zeinab Fadaie

ORCID

ORCID

, Adrian Dockery

ORCID

, Catherina H. Z. Li

ORCID

, L. Ingeborgh van den Born

ORCID

, Carel B. Hoyng

ORCID

, Christian Gilissen

ORCID

, Jordi Corominas

ORCID

, Charlie Rowlands

ORCID

ORCID

, Anne K. Lampe

ORCID

, Frans P. M. Cremers

ORCID

, Gwyneth Jane Farrar

ORCID

, Jamie M. Ellingford

ORCID

, Paul F. Kenna

ORCID

and 1 other authors

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

Upload

This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2019 Jamie M. Ellingford

ORCID

, Andrew R. Webster, Huw B. Thomas, Charlie Rowlands

ORCID

, Gavin Arno, Glenda Beaman, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Robert A. Hirst, Kevin Webb, Simon Ramsden, Christopher O'Callaghan, Elizabeth Jones and 6 other authors

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

Upload

This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2018 Jamie M. Ellingford

ORCID

, Glenda Beaman, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Graeme Cm Black, William G. Newman

Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia

Upload

This paper is made freely available by the publisher.

2017 Rachel L. Taylor, Neil R. A. Parry, Stephanie J. Barton, Christopher Campbell, Claire M. Delaney, Jamie M. Ellingford

ORCID

, Georgina Hall, Claire Hardcastle, Jiten Morarji, Elisabeth J. Nichol, Lindsi C. Williams, Sofia Douzgou, Jill Clayton-Smith, Simon C. Ramsden, Vinod Sharma and 5 other authors

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease

Download from doi.org

This paper was not found in any repository, but could be made available legally by the author.

Andrea L. Vincent

ORCID

, Nandoun Abeysekera, Katherine A. van Bysterveldt, Verity F. Oliver, Jamie M. Ellingford

ORCID

, Stephanie Barton, Graeme Cm Black

Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation

Upload

This paper is made freely available by the publisher.

Jamie M. Ellingford

ORCID

, Christopher Campbell, Stephanie Barton, Sanjeev Bhaskar, Saurabh Gupta

ORCID

, Rachel L. Taylor, Panagiotis I. Sergouniotis, Bradley Horn, Janine A. Lamb

ORCID

, Michel Michaelides, Andrew R. Webster, William G. Newman, Binay Panda, Simon C. Ramsden, Graeme Cm Black

Validation of copy number variation analysis for next-generation sequencing diagnostics

Download from www.nature.com

This paper is made freely available by the publisher.

Rachel L. Taylor, Mark T. Handley

ORCID

, Sarah Waller, Christopher Campbell, Jill Urquhart, Alison M. Meynert, Jamie M. Ellingford

ORCID

, Deirdre Donnelly, Gisela Wilcox, I. Chris Lloyd, Helen Mundy, David R. FitzPatrick, Charu Deshpande, Jill Clayton-Smith, Graeme C. Black

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Download from doi.org

This paper was not found in any repository, but could be made available legally by the author.

2016 Panagiotis I. Sergouniotis, Jamie M. Ellingford

ORCID

, James O'Sullivan, Cecilia H. Fenerty, Graeme C. Black

Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma

Upload

This paper was not found in any repository, but could be made available legally by the author.

Jamie M. Ellingford

ORCID

, Panagiotis I. Sergouniotis, Emma Jenkins, Graeme C. Black

Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy

Upload

This paper is available in a repository.

Nicola Bedoni, Lonneke Haer-Wigman, Veronika Vaclavik, Viet H. Tran, Pietro Farinelli

ORCID

, Sara Balzano, Beryl Royer-Bertrand, Mohammed E. El-Asrag, Olivier Bonny, Christos Ikonomidis, Yan Litzistorf, Konstantinos Nikopoulos, Georgia G. Yioti, Maria I. Stefaniotou, Martin McKibbin and 16 other authors

Mutations in the polyglutamylase geneTTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Download from serval.unil.ch

This paper is available in a repository.

Jamie M. Ellingford

ORCID

, Stephanie Barton, Sanjeev Bhaskar, Simon G. Williams

ORCID

, Panagiotis I. Sergouniotis, James O'Sullivan, Janine A. Lamb

ORCID

, Rahat Perveen, Georgina Hall, William G. Newman, Paul N. Bishop, Stephen A. Roberts, Rick Leach, Rick Tearle, Stuart Bayliss and 3 other authors

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

Download from www.researchgate.net

This paper was not found in any repository, but could be made available legally by the author.

Jill Urquhart, Rebecca Roberts, Deepthi de Silva, Stavit Shalev, Elena Chervinsky, Sheela Nampoothiri, Yves Sznajer, Nicole Revencu, Romesh Gunasekera, Mohnish Suri, Jamie Ellingford

ORCID

, Simon Williams

ORCID

, Sanjeev Bhaskar, Jill Clayton-Smith

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

Upload

This paper is made freely available by the publisher.

Sergouniotis Pi, Panagiotis I. Sergouniotis, Stephanie J. Barton, Barton Sj, Sarah Waller, Rahat Perveen, Jamie M. Ellingford

ORCID

, Ellingford Jm, Christopher Campbell, Georgina Hall, Gillespie Rl, Rachel L. Gillespie, Sanjeev S. Bhaskar, Bhaskar Ss, Simon C. Ramsden and 5 other authors

The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity

Download from doi.org

This paper is available in a repository.

Jamie M. Ellingford

ORCID

, Ellingford Jm, Stephanie Barton, Sanjeev Bhaskar, James O'Sullivan, Williams Sg, Simon G. Williams

ORCID

, Lamb Ja, Janine A. Lamb

ORCID

, Binay Panda, Sergouniotis Pi, Panagiotis I. Sergouniotis, Gillespie Rl, Rachel L. Gillespie, Rachel L. Taylor and 12 other authors

Molecular findings from 537 individuals with inherited retinal disease.

Download from dx.doi.org

This paper was not found in any repository, but could be made available legally by the author.

2015 Jamie M. Ellingford

ORCID

, Panagiotis I. Sergouniotis, Rachel Lennon, Sanjeev Bhaskar, Simon G. Williams

ORCID

, Kate A. Hillman, James O'Sullivan, Georgina Hall, Simon C. Ramsden, I. Christopher Lloyd, Adrian S. Woolf, Graeme C. M. Black, Panagiotis I. Sergouniotis Rachel Lennon Sanjeev Bhaskar Simon G. Williams Kate A. Hillman James O’Sullivan Georgina Hall Simon C. Ramsden I Christopher Lloyd Adrian S. Woolf Graeme C. M. Black Jamie M. Ellingford

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome

Upload

This paper is made freely available by the publisher.

J. M. Ellingford

ORCID

, G. C. M. Black, T. H. Clayton, M. Judge, C. E. M. Griffiths, R. B. Warren

A novel mutation in IL36RN underpins childhood pustular dermatosis

Download from doi.org

Missing publications? Search for publications with a matching author name.