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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
BMC cancer, ISSN 1471-2407, 2010, Volume 10, Issue 1, pp. 464 - 464
Journal Article
Journal Article
Genetics in medicine, ISSN 1530-0366, 2016, Volume 19, Issue 6, pp. 667 - 675
... Gilissen, PhD1, Hans Scheffer, PhD1,2, Joris A. Veltman, Prof. Dr1,2 and Jayne Y. Hehir-Kwa, PhD1 Copy-number variation is a common source of genomic variation... 
read depth | exome sequencing | structural variation | Copy-number variants | diagnostic yield | ARRAY | copy-number variants | MODEL | INSERTIONS | DISEASE | GENETICS & HEREDITY | MUTATIONS | MAP | DELETIONS | Original
Journal Article
Nature reviews. Genetics, ISSN 1471-0064, 2012, Volume 13, Issue 8, pp. 565 - 575
New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based... 
Autistic Disorder - genetics | Genetic Predisposition to Disease | Humans | Genetic Diseases, Inborn - genetics | Male | Germ Cells | Genetic Testing - methods | Intellectual Disability - genetics | Schizophrenia - genetics | Female | Mutation | Genome | Sequence Analysis, DNA - methods | Genetic disorders | Research | Gene mutations | Health aspects | Risk factors
Journal Article
Nature (London), ISSN 1476-4687, 2014, Volume 511, Issue 7509, pp. 344 - 347
Journal Article