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Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32908-7
By:
- Macken, William L.;
- Falabella, Micol;
- McKittrick, Caroline;
- Pizzamiglio, Chiara;
- Ellmers, Rebecca;
- Eggleton, Kelly;
- Woodward, Cathy E.;
- Patel, Yogen;
- Labrum, Robyn;
- Genomics England Research Consortium;
- Ambrose, J. C.;
- Arumugam, P.;
- Bevers, R.;
- Bleda, M.;
- Boardman-Pretty, F.;
- Boustred, C. R.;
- Brittain, H.;
- Brown, M. A.;
- Caulfield, M. J.;
- Chan, G. C.
Publication type:
Article
Temperature calibration of a high-pressure DSC for measurements in ammonia.
Published in:
Journal of Thermal Analysis & Calorimetry, 2007, v. 90, n. 3, p. 931, doi. 10.1007/s10973-007-8568-8
By:
- van Ekeren, P. J.;
- Bevers, E. R. T.
Publication type:
Article
Investigation of thermodynamic properties of magnesium chloride amines by HPDSC and TG.
Published in:
Journal of Thermal Analysis & Calorimetry, 2007, v. 90, n. 3, p. 923, doi. 10.1007/s10973-006-8247-1
By:
- Bevers, E. R. T.;
- Oonk, H. A. J.;
- Haije, W. G.;
- van Ekeren, P. J.
Publication type:
Article
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
Published in:
Human Genetics, 2023, v. 142, n. 3, p. 351, doi. 10.1007/s00439-022-02509-x
By:
- Seaby, Eleanor G.;
- Thomas, N. Simon;
- Webb, Amy;
- Brittain, Helen;
- Taylor Tavares, Ana Lisa;
- Genomics England Consortium;
- Ambrose, J. C.;
- Arumugam, P;
- Bevers, R;
- Bleda, M;
- Boardman-Pretty, F;
- Boustred, C. R.;
- Brittain, H;
- Caulfield, M. J.;
- Chan, G. C.;
- Fowler, T;
- Giess, A;
- Hamblin, A;
- Henderson, S;
- Hubbard, T. J. P.
Publication type:
Article
A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project).
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-32169-4
By:
- Leggatt, Gary;
- Cheng, Guo;
- Narain, Sumit;
- Briseño-Roa, Luis;
- Annereau, Jean-Philippe;
- Ambrose, J. C.;
- Arumugam, P.;
- Bevers, R.;
- Bleda, M.;
- Boardman-Pretty, F.;
- Boustred, C. R.;
- Brittain, H.;
- Brown, M. A.;
- Caulfield, M. J.;
- Chan, G. C.;
- Giess, A.;
- Griffin, J. N.;
- Hamblin, A.;
- Henderson, S.;
- Hubbard, T. J. P.
Publication type:
Article
Early-life stress biases responding to negative feedback and increases amygdala volume and vulnerability to later-life stress.
Published in:
Translational Psychiatry, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41398-023-02385-7
By:
- Dutcher, Ethan G.;
- Lopez-Cruz, Laura;
- Pama, E. A. Claudia;
- Lynall, Mary-Ellen;
- Bevers, Iris C. R.;
- Jones, Jolyon A.;
- Khan, Shahid;
- Sawiak, Stephen J.;
- Milton, Amy L.;
- Clatworthy, Menna R.;
- Robbins, Trevor W.;
- Bullmore, Edward T.;
- Dalley, Jeffrey W.
Publication type:
Article
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping.
Published in:
Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01204-4
By:
- Sanjaya, Prima;
- Maljanen, Katri;
- Katainen, Riku;
- Waszak, Sebastian M.;
- Ambrose, J. C.;
- Arumugam, P.;
- Bevers, R.;
- Bleda, M.;
- Boardman-Pretty, F.;
- Boustred, C. R.;
- Brittain, H.;
- Brown, M. A.;
- Caulfield, M. J.;
- Chan, G. C.;
- Giess, A.;
- Griffin, J. N.;
- Hamblin, A.;
- Henderson, S.;
- Hubbard, T. J. P.;
- Jackson, R.
Publication type:
Article
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00330-z
By:
- Jurkute, Neringa;
- Cancellieri, Francesca;
- Pohl, Lisa;
- Li, Catherina H. Z.;
- Heaton, Robert A.;
- Reurink, Janine;
- Bellingham, James;
- Quinodoz, Mathieu;
- Yioti, Georgia;
- Stefaniotou, Maria;
- Weener, Marianna;
- Zuleger, Theresia;
- Haack, Tobias B.;
- Stingl, Katarina;
- Genomics England Research Consortium;
- Ambrose, J. C.;
- Arumugam, P.;
- Bevers, R.;
- Bleda, M.;
- Boardman-Pretty, F.
Publication type:
Article
A novel likely pathogenic CLCN5 variant in Dent's disease.
Published in:
2023
By:
- Hayward, S;
- Norton, J;
- Bownass, L;
- Platt, C;
- Genomics England Research Consortium;
- Ambrose, J. C.;
- Arumugam, P;
- Bevers, R.;
- Bleda, M.;
- Boardman-Pretty, F.;
- Boustred, C. R.;
- Brittain, H.;
- Brown, M. A.;
- Caulfield, M. J.;
- Chan, G. C.;
- Giess, A.;
- Griffin, J. N.;
- Hamblin, A.;
- Henderson, S.;
- Hubbard, T. J. P.
Publication type:
Case Study
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.
Published in:
2022
By:
- Trotman, Jamie;
- Armstrong, Ruth;
- Firth, Helen;
- Trayers, Claire;
- Watkins, James;
- Allinson, Kieren;
- Jacques, Thomas S.;
- Nicholson, James C.;
- Burke, G. A. Amos;
- Genomics England Research Consortium;
- Ambrose, J. C.;
- Arumugam, P.;
- Bevers, R.;
- Bleda, M.;
- Boardman-Pretty, F.;
- Boustred, C. R.;
- Brittain, H.;
- Caulfield, M. J.;
- Chan, G. C.;
- Fowler, T.
Publication type:
journal article
Role of urothelial cells in BCG immunotherapy for superficial bladder cancer.
Published in:
2004
By:
- Bevers, R. F. M.;
- Kurth, K.-H.;
- Schamhart, D. H. J.
Publication type:
journal article
Femoral Occlusion in a Young Racing Cyclist and Nonatherosclerotic Aneurysms in the Autogenous Saphenous Vein Graft Used--A Case Report.
Published in:
Vascular Surgery, 1988, v. 22, n. 4, p. 268, doi. 10.1177/153857448802200409
By:
- Bevers, R. F. M.;
- Rijksen, J. F. W. B.
Publication type:
Article

Found: 12