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American Journal of Medical Genetics Part C : Seminars in Medical Genetics, ISSN 1552-4868, 2014, Volume 166, Issue 3, pp. 315 - 326
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 the DDD Study and DDD Study
The American Journal of Human Genetics, ISSN 0002-9297, 08/2015, Volume 97, Issue 2, pp. 343 - 352
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 816 - 825
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare... 
CNV | phenotypic variability | 16p11.2 deletion | autism | modifier | SUPPORTS | SCHIZOPHRENIA | MODEL | REARRANGEMENTS | PENETRANCE | GENETICS & HEREDITY | 16P12.1 | MUTATIONS | DELETIONS | EXPRESSION | Life Sciences | Genetics | Human genetics
Journal Article
by Maas, Andrew I R and Menon, David K and Adelson, P David and Andelic, Nada and Bell, Michael J and Belli, Antonio and Bragge, Peter and Brazinova, Alexandra and Büki, András and Chesnut, Randall M and Citerio, Giuseppe and Coburn, Mark and Cooper, D Jamie and Crowder, A Tamara and Czeiter, Endre and Czosnyka, Marek and Diaz-Arrastia, Ramon and Dreier, Jens P and Duhaime, Ann-Christine and Ercole, Ari and van Essen, Thomas A and Feigin, Valery L and Gao, Guoyi and Giacino, Joseph and Gonzalez-Lara, Laura E and Gruen, Russell L and Gupta, Deepak and Hartings, Jed A and Hill, Sean and Jiang, Ji-yao and Ketharanathan, Naomi and Kompanje, Erwin J O and Lanyon, Linda and Laureys, Steven and Lecky, Fiona and Levin, Harvey and Lingsma, Hester F and Maegele, Marc and Majdan, Marek and Manley, Geoffrey and Marsteller, Jill and Mascia, Luciana and McFadyen, Charles and Mondello, Stefania and Newcombe, Virginia and Palotie, Aarno and Parizel, Paul M and Peul, Wilco and Piercy, James and Polinder, Suzanne and Puybasset, Louis and Rasmussen, Todd E and Rossaint, Rolf and Smielewski, Peter and Söderberg, Jeannette and Stanworth, Simon J and Stein, Murray B and von Steinbüchel, Nicole and Stewart, William and Steyerberg, Ewout W and Stocchetti, Nino and Synnot, Anneliese and Te Ao, Braden and Tenovuo, Olli and Theadom, Alice and Tibboel, Dick and Videtta, Walter and Wang, Kevin K W and Williams, W Huw and Wilson, Lindsay and Yaffe, Kristine and Adams, Hadie and Agnoletti, Vanni and Allanson, Judith and Amrein, Krisztina and Andaluz, Norberto and Anke, Audny and Antoni, Anna and van As, Arjan Bastiaan and Audibert, Gérard and Azaševac, Antun and Azouvi, Philippe and Azzolini, Maria Luisa and Baciu, Camelia and Badenes, Rafael and Barlow, Karen M and Bartels, Ronald and Bauerfeind, Ursula and Beauchamp, Miriam and Beer, Darcy and Beer, Ronny and Belda, Francisco Javier and Bellander, Bo-Michael and Bellier, Rémy and Benali, Habib and Benard, Thierry and Beqiri, Valzerda and Beretta, Luigi and Bernard, Francis and Bertolini, Guido and ... and InTBIR Participants and Investigators and InTBIR Participants Investigators
The Lancet Neurology, ISSN 1474-4422, 12/2017, Volume 16, Issue 12, pp. 987 - 1048
Journal Article
by Cheng, Hanyin and Dharmadhikari, Avinash V and Varland, Sylvia and Ma, Ning and Domingo, Deepti and Kleyner, Robert and Rope, Alan F and Yoon, Margaret and Stray-Pedersen, Asbjørg and Posey, Jennifer E and Crews, Sarah R and Eldomery, Mohammad K and Akdemir, Zeynep Coban and Lewis, Andrea M and Sutton, Vernon R and Rosenfeld, Jill A and Conboy, Erin and Agre, Katherine and Xia, Fan and Walkiewicz, Magdalena and Longoni, Mauro and High, Frances A and van Slegtenhorst, Marjon A and Mancini, Grazia M.S and Finnila, Candice R and van Haeringen, Arie and den Hollander, Nicolette and Ruivenkamp, Claudia and Naidu, Sakkubai and Mahida, Sonal and Palmer, Elizabeth E and Murray, Lucinda and Lim, Derek and Jayakar, Parul and Parker, Michael J and Giusto, Stefania and Stracuzzi, Emanuela and Romano, Corrado and Beighley, Jennifer S and Bernier, Raphael A and Küry, Sébastien and Nizon, Mathilde and Corbett, Mark A and Shaw, Marie and Gardner, Alison and Barnett, Christopher and Armstrong, Ruth and Kassahn, Karin S and Van Dijck, Anke and Vandeweyer, Geert and Kleefstra, Tjitske and Schieving, Jolanda and Jongmans, Marjolijn J and de Vries, Bert B.A and Pfundt, Rolph and Kerr, Bronwyn and Rojas, Samantha K and Boycott, Kym M and Person, Richard and Willaert, Rebecca and Eichler, Evan E and Kooy, R. Frank and Yang, Yaping and Wu, Joseph C and Lupski, James R and Arnesen, Thomas and Cooper, Gregory M and Chung, Wendy K and Gecz, Jozef and Stessman, Holly A.F and Meng, Linyan and Lyon, Gholson J
The American Journal of Human Genetics, ISSN 0002-9297, 05/2018, Volume 102, Issue 5, pp. 985 - 994
Journal Article