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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
Nature genetics, ISSN 1061-4036, 2016, Volume 48, Issue 10, pp. 1185 - 1192
Journal Article
by Snijders Blok, Lot and Madsen, Erik and Juusola, Jane and Gilissen, Christian and Baralle, Diana and Reijnders, Margot R.F and Venselaar, Hanka and Helsmoortel, Céline and Cho, Megan T and Hoischen, Alexander and Vissers, Lisenka E.L.M and Koemans, Tom S and Wissink-Lindhout, Willemijn and Eichler, Evan E and Romano, Corrado and Van Esch, Hilde and Stumpel, Connie and Vreeburg, Maaike and Smeets, Eric and Oberndorff, Karin and van Bon, Bregje W.M and Shaw, Marie and Gecz, Jozef and Haan, Eric and Bienek, Melanie and Jensen, Corinna and Loeys, Bart L and Van Dijck, Anke and Innes, A. Micheil and Racher, Hilary and Vermeer, Sascha and Di Donato, Nataliya and Rump, Andreas and Tatton-Brown, Katrina and Parker, Michael J and Henderson, Alex and Lynch, Sally A and Fryer, Alan and Ross, Alison and Vasudevan, Pradeep and Kini, Usha and Newbury-Ecob, Ruth and Chandler, Kate and Male, Alison and Dijkstra, Sybe and Schieving, Jolanda and Giltay, Jacques and van Gassen, Koen L.I and Schuurs-Hoeijmakers, Janneke and Tan, Perciliz L and Pediaditakis, Igor and Haas, Stefan A and Retterer, Kyle and Reed, Patrick and Monaghan, Kristin G and Haverfield, Eden and Natowicz, Marvin and Myers, Angela and Kruer, Michael C and Stein, Quinn and Strauss, Kevin A and Brigatti, Karlla W and Keating, Katherine and Burton, Barbara K and Kim, Katherine H and Charrow, Joel and Norman, Jennifer and Foster-Barber, Audrey and Kline, Antonie D and Kimball, Amy and Zackai, Elaine and Harr, Margaret and Fox, Joyce and McLaughlin, Julie and Lindstrom, Kristin and Haude, Katrina M and van Roozendaal, Kees and Brunner, Han and Chung, Wendy K and Kooy, R. Frank and Pfundt, Rolph and Kalscheuer, Vera and Mehta, Sarju G and Katsanis, Nicholas and Kleefstra, Tjitske and DDD Study
The American Journal of Human Genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 343 - 352
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2018, Volume 55, Issue 7, pp. 497 - 504
Journal Article
Science, ISSN 0036-8075, 12/2018, Volume 362, Issue 6419, pp. 1161 - 1164
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 735 - 742
Background Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown.... 
ACTIVATION | ISOFORMS | COMPLEXES | GENETICS & HEREDITY | GUIDANCE | RHO-GTPASES | AXON OUTGROWTH | IDENTIFICATION | PH DOMAINS | MULTIPLE | GROWTH CONE | Care and treatment | Phenotype | Child development deviations | Genotype | Genetic aspects | Research | Microcephaly | Risk factors | Developmental disabilities | TRIO | Rac1 | 1506 | Rho GTPase | Cognitive and Behavioural Genetics | Dbl
Journal Article
by Mefford, Heather C and Sharp, Anew 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, 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 Lo Giudice, Mariangela and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Raber, 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, Bjorn and Gimelli, Giorgio and Gribble, Susan and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J. L and Sebat, Jonathan and Romano, Corrado and Schwartz, Charles E 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
New England journal of medicine, ISSN 0028-4793, 2008, Volume 359, Issue 16, pp. 1685 - U130
Journal Article
by Ansari, Morad and Poke, Gemma and Ferry, Quentin and Williamson, Kathleen and Aldridge, Roland and Meynert, Alison M and Bengani, Hemant and Chan, Cheng Yee and Kayserili, Hülya and Avci, Şahin and Hennekam, Raoul C M and Lampe, Anne K and Redeker, Egbert and Homfray, Tessa and Ross, Alison and Falkenberg Smeland, Marie and Mansour, Sahar and Parker, Michael J and Cook, Jacqueline A and Splitt, Miranda and Fisher, Richard B and Fryer, Alan and Magee, Alex C and Wilkie, Andrew and Barnicoat, Angela and Brady, Angela F and Cooper, Nicola S and Mercer, Catherine and Deshpande, Charu and Bennett, Christopher P and Pilz, Daniela T and Ruddy, Deborah and Cilliers, Deirdre and Johnson, Diana S and Josifova, Dragana and Rosser, Elisabeth and Thompson, Elizabeth M and Wakeling, Emma and Kinning, Esther and Stewart, Fiona and Flinter, Frances and Girisha, Katta M and Cox, Helen and Firth, Helen V and Kingston, Helen and Wee, Jamie S and Hurst, Jane A and Clayton-Smith, Jill and Tolmie, John and Vogt, Julie and Tatton–Brown, Katrina and Chandler, Kate and Prescott, Katrina and Wilson, Louise and Behnam, Mahdiyeh and McEntagart, Meriel and Davidson, Rosemarie and Lynch, Sally-Ann and Sisodiya, Sanjay and Mehta, Sarju G and McKee, Shane A and Mohammed, Shehla and Holden, Simon and Park, Soo-Mi and Holder, Susan E and Harrison, Victoria and McConnell, Vivienne and Lam, Wayne K and Green, Andrew J and Donnai, Dian and Bitner-Glindzicz, Maria and Donnelly, Deirdre E and Nellåker, Christoffer and Taylor, Martin S and FitzPatrick, David R
Journal of Medical Genetics, ISSN 0022-2593, 10/2014, Volume 51, Issue 10, pp. 659 - 668
Journal Article
Human Mutation, ISSN 1059-7794, 05/2018, Volume 39, Issue 5, pp. 621 - 634
Journal Article