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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies.
Published in:
Journal of Human Genetics, 2012, v. 57, n. 1, p. 70, doi. 10.1038/jhg.2011.128
By:
- Pagnamenta, Alistair T;
- Lise, Stefano;
- Harrison, Victoria;
- Stewart, Helen;
- Jayawant, Sandeep;
- Quaghebeur, Gerardine;
- Deng, Alexander T;
- Murphy, Valerie Elizabeth;
- Akha, Elham Sadighi;
- Rimmer, Andy;
- Mathieson, Iain;
- Knight, Samantha JL;
- Kini, Usha;
- Taylor, Jenny C;
- Keays, David A
Publication type:
Article
PepSite: prediction of peptide-binding sites from protein surfaces.
Published in:
Nucleic Acids Research, 2012, v. 40, p. W423, doi. 10.1093/nar/gks398
By:
- Trabuco, Leonardo G.;
- Lise, Stefano;
- Petsalaki, Evangelia;
- Russell, Robert B.
Publication type:
Article
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2988, doi. 10.1002/ajmg.a.37755
By:
- Piret, Sian E.;
- Gorvin, Caroline M.;
- Trinh, Anne;
- Taylor, John;
- Lise, Stefano;
- Taylor, Jenny C.;
- Ebeling, Peter R.;
- Thakker, Rajesh V.
Publication type:
Article
Predictions of Hot Spot Residues at Protein-Protein Interfaces Using Support Vector Machines.
Published in:
PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016774
By:
- Lise, Stefano;
- Buchan, Daniel;
- Pontil, Massimiliano;
- Jones, David T.
Publication type:
Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1031, doi. 10.1038/ejhg.2013.91
By:
- Shanks, Morag E;
- Downes, Susan M;
- Copley, Richard R;
- Lise, Stefano;
- Broxholme, John;
- Hudspith, Karl A Z;
- Kwasniewska, Alexandra;
- Davies, Wayne I L;
- Hankins, Mark W;
- Packham, Emily R;
- Clouston, Penny;
- Seller, Anneke;
- Wilkie, Andrew O M;
- Taylor, Jenny C;
- Ragoussis, Jiannis;
- Németh, Andrea H
Publication type:
Article
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 3, p. 274, doi. 10.1038/ejhg.2012.172
By:
- Shanks, Morag E;
- Downes, Susan M;
- Copley, Richard R;
- Lise, Stefano;
- Broxholme, John;
- Hudspith, Karl AZ;
- Kwasniewska, Alexandra;
- Davies, Wayne IL;
- Hankins, Mark W;
- Packham, Emily R;
- Clouston, Penny;
- Seller, Anneke;
- Wilkie, Andrew OM;
- Taylor, Jenny C;
- Ragoussis, Jiannis;
- Németh, Andrea H
Publication type:
Article
The CATH Domain Structure Database and related resources Gene3D and DHS provide comprehensive domain family information for genome analysis.
Published in:
Nucleic Acids Research, 2005, v. 33, n. suppl 1, p. d247
By:
- Pearl, Frances;
- Todd, Annabel;
- Sillitoe, Ian;
- Dibley, Mark;
- Redfern, Oliver;
- Lewis, Tony;
- Bennett, Christopher;
- Marsden, Russell;
- Grant, Alistair;
- Lee, David;
- Akpor, Adrian;
- Maibaum, Michael;
- Harrison, Andrew;
- Dallman, Timothy;
- Reeves, Gabrielle;
- Diboun, Ilhem;
- Addou, Sarah;
- Lise, Stefano;
- Johnston, Caroline;
- Sillero, Antonio
Publication type:
Article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
By:
- Conti, Valerio;
- Carabalona, Aurelie;
- Pallesi-Pocachard, Emilie;
- Parrini, Elena;
- Leventer, Richard J.;
- Buhler, Emmanuelle;
- McGillivray, George;
- Michel, François J.;
- Striano, Pasquale;
- Mei, Davide;
- Watrin, Françoise;
- Lise, Stefano;
- Pagnamenta, Alistair T.;
- Taylor, Jenny C.;
- Kini, Usha;
- Clayton-Smith, Jill;
- Novara, Francesca;
- Zuffardi, Orsetta;
- Dobyns, William B.;
- Scheffer, Ingrid E.
Publication type:
Article
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3106, doi. 10.1093/brain/awt236
By:
- Németh, Andrea H.;
- Kwasniewska, Alexandra C.;
- Lise, Stefano;
- Parolin Schnekenberg, Ricardo;
- Becker, Esther B. E.;
- Bera, Katarzyna D.;
- Shanks, Morag E.;
- Gregory, Lorna;
- Buck, David;
- Zameel Cader, M.;
- Talbot, Kevin;
- de Silva, Rajith;
- Fletcher, Nicholas;
- Hastings, Rob;
- Jayawant, Sandeep;
- Morrison, Patrick J.;
- Worth, Paul;
- Taylor, Malcolm;
- Tolmie, John;
- O’Regan, Mary
Publication type:
Article
Genome-wide plasma DNA methylation features of metastatic prostate cancer.
Published in:
2020
By:
- Anjui Wu;
- Cremaschi, Paolo;
- Wetterskog, Daniel;
- Conteduca, Vincenza;
- Franceschini, Gian Marco;
- Kleftogiannis, Dimitrios;
- Jayaram, Anuradha;
- Sandhu, Shahneen;
- Wong, Stephen Q.;
- Benelli, Matteo;
- Salvi, Samanta;
- Gurioli, Giorgia;
- Feber, Andrew;
- Buongermino Pereira, Mariana;
- Wingate, Anna Maria;
- Gonzalez-Billalebeitia, Enrique;
- De Giorgi, Ugo;
- Demichelis, Francesca;
- Lise, Stefano;
- Attard, Gerhardt
Publication type:
journal article
Identification of single nucleotide variants using position-specific error estimation in deep sequencing data.
Published in:
BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0557-9
By:
- Kleftogiannis, Dimitrios;
- Punta, Marco;
- Jayaram, Anuradha;
- Sandhu, Shahneen;
- Wong, Stephen Q.;
- Gasi Tandefelt, Delila;
- Conteduca, Vincenza;
- Wetterskog, Daniel;
- Attard, Gerhardt;
- Lise, Stefano
Publication type:
Article
Microenvironmental niche divergence shapes BRCA1-dysregulated ovarian cancer morphological plasticity.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06130-3
By:
- Heindl, Andreas;
- Khan, Adnan Mujahid;
- Rodrigues, Daniel Nava;
- Eason, Katherine;
- Sadanandam, Anguraj;
- Orbegoso, Cecilia;
- Punta, Marco;
- Sottoriva, Andrea;
- Lise, Stefano;
- Banerjee, Susana;
- Yuan, Yinyin
Publication type:
Article
Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development.
Published in:
PLoS Genetics, 2012, v. 8, n. 12, p. 1, doi. 10.1371/journal.pgen.1003074
By:
- Lise, Stefano;
- Clarkson, Yvonne;
- Perkins, Emma;
- Kwasniewska, Alexandra;
- Akha, Elham Sadighi;
- Schnekenberg, Ricardo Parolin;
- Suminaite, Daumante;
- Hope, Jilly;
- Baker, Ian;
- Gregory, Lorna;
- Green, Angie;
- Allan, Chris;
- Lamble, Sarah;
- Jayawant, Sandeep;
- Quaghebeur, Gerardine;
- Cader, M. Zameel;
- Hughes, Sarah;
- Armstrong, Richard J. E.;
- Kanapin, Alexander;
- Rimmer, Andrew
Publication type:
Article
Author Correction: Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.
Published in:
2020
By:
- von Loga, Katharina;
- Woolston, Andrew;
- Punta, Marco;
- Barber, Louise J.;
- Griffiths, Beatrice;
- Semiannikova, Maria;
- Spain, Georgia;
- Challoner, Benjamin;
- Fenwick, Kerry;
- Simon, Ronald;
- Marx, Andreas;
- Sauter, Guido;
- Lise, Stefano;
- Matthews, Nik;
- Gerlinger, Marco
Publication type:
Correction Notice
Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-13915-7
By:
- von Loga, Katharina;
- Woolston, Andrew;
- Punta, Marco;
- Barber, Louise J.;
- Griffiths, Beatrice;
- Semiannikova, Maria;
- Spain, Georgia;
- Challoner, Benjamin;
- Fenwick, Kerry;
- Simon, Ronald;
- Marx, Andreas;
- Sauter, Guido;
- Lise, Stefano;
- Matthews, Nik;
- Gerlinger, Marco
Publication type:
Article

Found: 15