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The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Published in:
2016
By:
- Sergouniotis, Panagiotis I.;
- Barton, Stephanie J.;
- Waller, Sarah;
- Perveen, Rahat;
- Ellingford, Jamie M.;
- Campbell, Christopher;
- Hall, Georgina;
- Gillespie, Rachel L.;
- Bhaskar, Sanjeev S.;
- Ramsden, Simon C.;
- Black, Graeme C.;
- Lovell, Simon C.
Publication type:
journal article
Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission.
Published in:
eLife, 2021, p. 1, doi. 10.7554/eLife.65453
By:
- Ellingford, Jamie M.;
- George, Ryan;
- McDermott, John H.;
- Ahmad, Shazaad;
- Edgerley, Jonathan J.;
- Gokhale, David;
- Newman, William G.;
- Ball, Stephen;
- Machin, Nicholas;
- Black, Graeme C. M.
Publication type:
Article
Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in Three Patients with Hypertrophic Cardiomyopathy.
Published in:
Cardiogenetics, 2021, v. 11, n. 2, p. 73, doi. 10.3390/cardiogenetics11020009
By:
- Wood, Katherine A.;
- Ellingford, Jamie M.;
- Eden, James;
- Thomas, Huw B.;
- O'Keefe, Raymond T.;
- Hopton, Claire;
- Newman, William G.
Publication type:
Article
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1216, doi. 10.1002/ajmg.a.37564
By:
- Urquhart, Jill;
- Roberts, Rebecca;
- de Silva, Deepthi;
- Shalev, Stavit;
- Chervinsky, Elena;
- Nampoothiri, Sheela;
- Sznajer, Yves;
- Revencu, Nicole;
- Gunasekera, Romesh;
- Suri, Mohnish;
- Ellingford, Jamie;
- Williams, Simon;
- Bhaskar, Sanjeev;
- Clayton‐Smith, Jill
Publication type:
Article
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Published in:
Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-023-01277-1
By:
- Dueñas Rey, Alfredo;
- del Pozo Valero, Marta;
- Bouckaert, Manon;
- Wood, Katherine A;
- Van den Broeck, Filip;
- Varela, Malena Daich;
- Thomas, Huw B;
- Van Heetvelde, Mattias;
- De Bruyne, Marieke;
- Van de Sompele, Stijn;
- Bauwens, Miriam;
- Lenaerts, Hanne;
- Mahieu, Quinten;
- Josifova, Dragana;
- Rivolta, Carlo;
- O'Keefe, Raymond T;
- Ellingford, Jamie;
- Webster, Andrew R;
- Arno, Gavin;
- Ayuso, Carmen
Publication type:
Article
Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior BRCA1/2 Probability.
Published in:
Cancers, 2021, v. 13, n. 16, p. 4154, doi. 10.3390/cancers13164154
By:
- Evans, D. Gareth;
- van Veen, Elke M.;
- Woodward, Emma R.;
- Harkness, Elaine F.;
- Ellingford, Jamie M.;
- Bowers, Naomi L.;
- Wallace, Andrew J.;
- Howell, Sacha J.;
- Howell, Anthony;
- Lalloo, Fiona;
- Newman, William G.;
- Smith, Miriam J.
Publication type:
Article
Clinical and genetic variability in children with partial albinism.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51768-8
By:
- Campbell, Patrick;
- Ellingford, Jamie M.;
- Parry, Neil R. A.;
- Fletcher, Tracy;
- Ramsden, Simon C.;
- Gale, Theodora;
- Hall, Georgina;
- Smith, Katherine;
- Kasperaviciute, Dalia;
- Thomas, Ellen;
- Lloyd, I. Chris;
- Douzgou, Sofia;
- Clayton-Smith, Jill;
- Biswas, Susmito;
- Ashworth, Jane L.;
- Black, Graeme C. M.;
- Sergouniotis, Panagiotis I.
Publication type:
Article
Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.
Published in:
2019
By:
- Houweling, Arjan C.;
- Beaman, Glenda M.;
- Postma, Alex V.;
- Gainous, T. Blair;
- Lichtenbelt, Klaske D.;
- Brancati, Francesco;
- Lopes, Filipa M.;
- van der Made, Ingeborg;
- Polstra, Abeltje M.;
- Robinson, Michael L.;
- Wright, Kevin D.;
- Ellingford, Jamie M.;
- Jackson, Ashley R.;
- Overwater, Eline;
- Genesio, Rita;
- Romano, Silvio;
- Camerota, Letizia;
- D'Angelo, Emanuela;
- Meijers-Heijboer, Elizabeth J.;
- Christoffels, Vincent M.
Publication type:
journal article
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 4, p. 595, doi. 10.1093/hmg/ddac227
By:
- Varela, Malena Daich;
- Bellingham, James;
- Motta, Fabiana;
- Jurkute, Neringa;
- Ellingford, Jamie M;
- Quinodoz, Mathieu;
- Oprych, Kathryn;
- Niblock, Michael;
- Janeschitz-Kriegl, Lucas;
- Kaminska, Karolina;
- Cancellieri, Francesca;
- Scholl, Hendrik P N;
- Lenassi, Eva;
- Schiff, Elena;
- Knight, Hannah;
- Black, Graeme;
- Rivolta, Carlo;
- Cheetham, Michael E;
- Michaelides, Michel;
- Mahroo, Omar A
Publication type:
Article
Expanding the genotypic spectrum of TXNL4A variants in Burn‐McKeown syndrome.
Published in:
Clinical Genetics, 2022, v. 101, n. 2, p. 255, doi. 10.1111/cge.14082
By:
- Wood, Katherine A.;
- Ellingford, Jamie M.;
- Thomas, Huw B.;
- Douzgou, Sofia;
- Beaman, Glenda M.;
- Hobson, Emma;
- Prescott, Katrina;
- O'Keefe, Raymond T.;
- Newman, William G.
Publication type:
Article
Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.
Published in:
Clinical & Experimental Ophthalmology, 2017, v. 45, n. 9, p. 901, doi. 10.1111/ceo.12983
By:
- Vincent, Andrea L;
- Abeysekera, Nandoun;
- Bysterveldt, Katherine A;
- Oliver, Verity F;
- Ellingford, Jamie M;
- Barton, Stephanie;
- Black, Graeme CM
Publication type:
Article
Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.
Published in:
Clinical & Experimental Ophthalmology, 2017, v. 45, n. 3, p. 297, doi. 10.1111/ceo.12825
By:
- Ellingford, Jamie M;
- Sergouniotis, Panagiotis I;
- Jenkins, Emma;
- Black, Graeme C
Publication type:
Article
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 20, p. 4546, doi. 10.1093/hmg/ddw282
By:
- Bedoni, Nicola;
- Haer-Wigman, Lonneke;
- Vaclavik, Veronika;
- Tran, Viet H.;
- Farinelli, Pietro;
- Balzano, Sara;
- Royer-Bertrand, Beryl;
- El-Asrag, Mohammed E.;
- Bonny, Olivier;
- Ikonomidis, Christos;
- Litzistorf, Yan;
- Nikopoulos, Konstantinos;
- Yioti, Georgia G.;
- Stefaniotou, Maria I.;
- McKibbin, Martin;
- Booth, Adam P.;
- Ellingford, Jamie M.;
- Black, Graeme C.;
- Toomes, Carmel;
- Inglehearn, Chris F.
Publication type:
Article
Clinical and genetic findings in TRPM1‐related congenital stationary night blindness.
Published in:
Acta Ophthalmologica (1755375X), 2022, v. 100, n. 6, p. e1332, doi. 10.1111/aos.15186
By:
- Iosifidis, Christos;
- Liu, Jingshu;
- Gale, Theodora;
- Ellingford, Jamie M.;
- Campbell, Christopher;
- Ingram, Stuart;
- Chandler, Kate;
- Parry, Neil R. A.;
- Black, Graeme C.;
- Sergouniotis, Panagiotis I.
Publication type:
Article
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100 000 genomes project.
Published in:
2022
By:
- Best, Sunayna;
- Lord, Jenny;
- Roche, Matthew;
- Watson, Christopher;
- Poulter, James;
- Szymanska, Katarzyna;
- Ellingford, Jamie;
- Carmichael, Jenny;
- Brittain, Helen;
- Toomes, Carmel;
- Inglehearn, Chris;
- Johnson, Colin;
- Wheway, Gabrielle
Publication type:
Abstract
Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma.
Published in:
Acta Ophthalmologica (1755375X), 2017, v. 95, n. 3, p. e249, doi. 10.1111/aos.13246
By:
- Sergouniotis, Panagiotis I;
- Ellingford, Jamie M;
- O'Sullivan, James;
- Fenerty, Cecilia H;
- Black, Graeme C
Publication type:
Article
Extended gene panel testing in lobular breast cancer.
Published in:
Familial Cancer, 2022, v. 21, n. 2, p. 129, doi. 10.1007/s10689-021-00241-5
By:
- van Veen, Elke M.;
- Evans, D. Gareth;
- Harkness, Elaine F.;
- Byers, Helen J.;
- Ellingford, Jamie M.;
- Woodward, Emma R.;
- Bowers, Naomi L.;
- Wallace, Andrew J.;
- Howell, Sacha J.;
- Howell, Anthony;
- Lalloo, Fiona;
- Newman, William G.;
- Smith, Miriam J.
Publication type:
Article
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing.
Published in:
Cells (2073-4409), 2019, v. 8, n. 12, p. 1513, doi. 10.3390/cells8121513
By:
- Rowlands, Charlie F;
- Baralle, Diana;
- Ellingford, Jamie M
Publication type:
Article
Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance.
Published in:
2020
By:
- Ellingford, Jamie M.;
- Hufnagel, Robert B.;
- Arno, Gavin
Publication type:
Editorial
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Published in:
Genes, 2020, v. 11, n. 2, p. 179, doi. 10.3390/genes11020179
By:
- Green, David J.;
- Sallah, Shalaw R.;
- Ellingford, Jamie M.;
- Lovell, Simon C.;
- Sergouniotis, Panagiotis I.
Publication type:
Article

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