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Journal Article
Journal Article
by Mefford, Heather C and Sharp, Andrew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M.H.F and de Leeuw, Nicole and Reardon, William and Gimelli, Giorgio and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Giudice, Mariangela Lo and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Räber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and De Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Björn and Gribble, Susan and Schwartz, Charles E and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J.L and Sebat, Jonathan and Romano, Corrado and Veltman, Joris A and de Vries, Bert B.A and Vermeesch, Joris R and Barber, John C.K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
The New England Journal of Medicine, ISSN 0028-4793, 10/2008, Volume 359, Issue 16, pp. 1685 - 1699
This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a... 
Genotype & phenotype | Pediatrics | Pathology | Molecular biology | Chromosomes
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2017, Volume 19, Issue 6, pp. 667 - 675
PURPOSE: Copy-number variation is a common source of genomic variation and an important genetic cause of disease. Microarray-based analysis of copy-number... 
read depth | exome sequencing | structural variation | Copy-number variants | diagnostic yield | QT SYNDROME | copy-number variants | SEVERE INTELLECTUAL DISABILITY | DEVELOPMENTAL DELAY | MODEL | POLYMORPHISM | CONGENITAL-ANOMALIES | GENOME | INSERTIONS | GENETICS & HEREDITY | MAP | Original
Journal Article
Human Mutation, ISSN 1059-7794, 2017, Volume 38, Issue 2, pp. 226 - 235
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, Issue 3, pp. 308 - 314
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, pp. 591 - 599
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes genetic diagnosis cumbersome. An exome-sequencing approach was developed... 
Journal Article
by Jakubowska, A and Rozkrut, D and Antoniou, A and Hamann, U and Scott, R. J and McGuffog, L and Healy, S and Sinilnikova, O. M and Rennert, G and Lejbkowicz, F and Flugelman, A and Anulis, I. L and Glendon, G and Ozcelik, H and Thomassen, M and Paligo, M and Aretini, P and Kantala, J and Aroer, B and Von Wachenfeldt, A and Liljegren, A and Loman, N and Herbst, K and Kristoffersson, U and Rosenquist, R and Karlsson, P and Stenmark-Askmalm, M and Melin, B and Nathanson, K. L and Domchek, S. M and Byrski, T and Huzarski, T and Gronwald, J and Menkiszak, J and Cybulski, C and Serrano, P and Osorio, A and Cajal, T. R and Tsitlaidou, M and Benítez, J and Gilbert, M and Rookus, M and Aalfs, C. M and Kluijt, I and Boessenkool-Pape, J. L and Meijers-Heijboer, H. E. J and Oosterwijk, J. C and van Asperen, C. J and Blok, M. J and Nelen, M. R and van den Ouweland, A. M. W and Seynaeve, C and van der Luijt, R. B and Devilee, P and Easton, D. F and Peock, S and Frost, D and Platte, R and Ellis, S. D and Fineberg, E and Evans, D. G and Lalloo, F and Eeles, R and Jacobs, C and Adlard, J and Davidson, R and Eccles, D and Cole, T and Cook, J and Godwin, A and Bove, B and Stoppa-Lyonnet, D and Caux-Moncoutier, V and Belotti, M and Tirapo, C and Mazoyer, S and Barjhoux, L and Boutry-Kryza, N and Pujol, P and Coupier, I and Peyrat, J.-P and Vennin, P and Muller, D and Fricker, J.-P and Venat-Bouvet, L and Johannsson, O. Th and Isaacs, C and Schmutzler, R and Wappenschmidt, B and Meindl, A and Arnold, N and Varon-Mateeva, R and Niederacher, D and Sutter, C and Deissler, H and Preisler-Adams, S and Simard, J and Soucy, P and Durocher, F and Chenevix-Trench, G and ... and KConFab and EMBRACE and GEMO Study Collaborators and CIMBA and SWE BRCA and HEBON and OCGN and CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer and SWE-BRCA and on behalf of CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer and Onkologi och Patologi, MV and Lund University and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Oncology and Pathology, MV and Lunds universitet
British journal of cancer, ISSN 0007-0920, 2012, Volume 106, Issue 12, pp. 2016 - 2024
Journal Article