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SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells Zhang, Linda; Hsu, Joanne, I; Braekeleer, Etienne D.; Chen, Chun-Wei; Patel, Tajhal D.; Martell, Alejandra G.; Guzman, Anna G.; Wohlan, Katharina; Waldvogel, Sarah M.; Uryu, Hidetaka; Tovy, Ayala; Callen, Elsa; Murdaugh, Rebecca L.; Richard, Rosemary; Jansen, Sandra; Vissers, Lisenka; de Vries, Bert B. A.; Nussenzweig, Andre; Huang, Shixia; Coarfa, Cristian; Anastas, Jamie; Takahashi, Koichi; Vassiliou, George; Goodell, Margaret A. Share Save
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes Vos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M. Share Save
Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals Dingemans, Alexander J. M.; Jansen, Sandra; van Reeuwijk, Jeroen; de Leeuw, Nicole; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke; van Bon, Bregje W.; Marcelis, Carlo; Ockeloen, Charlotte W.; Willemsen, Marjolein; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A. Share Save
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework Dingemans, Alexander J. M.; Hinne, Max; Truijen, Kim M. G.; Goltstein, Lia; van Reeuwijk, Jeroen; de Leeuw, Nicole; Schuurs-Hoeijmakers, Janneke; Pfundt, Rolph; Diets, Illja J.; den Hoed, Joery; de Boer, Elke; van der Spek, Jet; Jansen, Sandra; van Bon, Bregje W.; Jonis, Noraly; Ockeloen, Charlotte W.; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; Campeau, Philippe M.; Palmer, Elizabeth E.; Van Esch, Hilde; Lyon, Gholson J.; Alkuraya, Fowzan S.; Rauch, Anita; Marom, Ronit; Baralle, Diana; van der Sluijs, Pleuntje J.; Santen, Gijs W. E.; Kooy, R. Frank; van Gerven, Marcel A. J.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A. Share Save
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome Stephenson, Sarah E. M.; Costain, Gregory; Blok, Laura E. R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P. Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Angeline; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E. L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Sulem, Patrick; Stefansson, Kari; Bjornsson, Hans Tomas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong Yang Share Save
ARTICLE Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders Dingemans, Alexander J. M.; Hinne, Max; Jansen, Sandra; van Reeuwijk, Jeroen; de Leeuw, Nicole; Pfundt, Rolph; van Bon, Bregje W.; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Koolen, David A.; van Gerven, Marcel A. J.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A. Share Save
Genetic convergence of developmental and epileptic encephalopathies and intellectual disability Carvill, Gemma L.; Jansen, Sandra; Lacroix, Amy; Zemel, Matthew; Mehaffey, Michele; De Vries, Petra; Brunner, Han G.; Scheffer, Ingrid E.; De Vries, Bert B. A.; Vissers, Lisenka E. L. M.; Mefford, Heather C. Share Save
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 Nair, Divya; Li, Dong; Erdogan, Hannah; Yoon, Andrew; Harr, Margaret H.; Bergant, Gaber; Peterlin, Borut; Pusenjak, Marusa Skrjanec; Jayakar, Parul; Pfundt, Rolph; Jansen, Sandra; McWalter, Kirsty; Sidhu, Alpa; Saliganan, Sheila; Agolini, Emanuele; Jacob, Arthur; Pasquier, Jennifer; Arash, Rafii; Kahrizi, Kimia; Najmabadi, Hossein; Ropers, Hans-Hilger; Bhoj, Elizabeth J. Share Save
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation Cif, Laura; Demailly, Diane; Lin, Jean-Pierre; Barwick, Katy E.; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K.; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W.; Applegate, Carolyn D.; Isfahani, Sanaz Attaripour; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A.; Baple, Emma L.; Bhatia, Kailash P.; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; D'Hardemare, Vincent; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E.; Farrelly, Ellyn; Fitzpatrick, David R.; Fearon, Conor; Fieg, Elizabeth L.; Fogel, Brent L.; Forman, Eva B.; Fox, Rachel G.; Gahl, William A.; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D.; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J.; Hamosh, Ada; Hully, Marie; Jansen, Sandra; Jeong, Suh Young; Krier, Joel B.; Krystal, Sidney; Kumar, Kishore R.; Laurencin, Chloe; Lee, Hane; Lesca, Gaetan; Francois, Laurence Lion; Lynch, Timothy; Mahant, Neil; Martinez-Agosto, Julian A.; Milesi, Christophe; Mills, Kelly A.; Mondain, Michel; Morales-Briceno, Hugo; Ostergaard, John R.; Pal, Swasti; Pallais, Juan C.; Pavillard, Frederique; Perrigault, Pierre-Francois; Petersen, Andrea K.; Polo, Gustavo; Poulen, Gaetan; Rinne, Tuula; Roujeau, Thomas; Rogers, Caleb; Roubertie, Agathe; Sahagian, Michelle; Schaefer, Elise; Selim, Laila; Selway, Richard; Sharma, Nutan; Signer, Rebecca; Soldatos, Ariane G.; Stevenson, David A.; Stewart, Fiona; Tchan, Michel; Verma, Ishwar C.; de Vries, Bert B. A.; Wilson, Jenny L.; Wong, Derek A.; Zaitoun, Raghda; Zhen, Dolly; Znaczko, Anna; Dale, Russell C.; de Gusmao, Claudio M.; Friedman, Jennifer; Fung, Victor S. C.; King, Mary D.; Mohammad, Shekeeb S.; Rohena, Luis; Waugh, Jeff L.; Toro, Camilo; Raymond, F. Lucy; Topf, Maya; Coubes, Philippe; Gorman, Kathleen M.; Kurian, Manju A. Share Save
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders van der Werf, Ilse M.; Jansen, Sandra; de Vries, Petra F.; Gerstmans, Amber; van de Vorst, Maartje; Van Dijck, Anke; de Vries, Bert B. A.; Gilissen, Christian; Hoischen, Alexander; Vissers, Lisenka E. L. M.; Kooy, R. Frank; Vandeweyer, Geert Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019) van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders van Der Donk, Roos; Jansen, Sandra; Schuurs-Hoeijmakers, Janneke H. M.; Koolen, David A.; Goltstein, Lia C. M. J.; Hoischen, Alexander; Brunner, Han G.; Kemmeren, Patrick; Nellaker, Christoffer; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Hehir-Kwa, Jayne Y. Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (vol 104, pg 139, 2019) Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A.; Bongers, Ernie M. H. F.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlene; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M. P. C. D.; Terhal, Paulien A.; van Gassen, Koen L.; Verbeek, Nienke; Henry, Sonja; Schwoerer, Jessica Scott; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R.; Macnamara, Ellen; Braakman, Hilde M. H.; Brimble, Elise; Ruzhnikov, Maura R. Z.; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B. A.; Gordon, Christopher T.; Janssens, Veerle; Vissers, Lisenka E. L. M. Share Save
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms Jansen, Sandra; van der Werf, Ilse M.; Innes, A. Micheil; Afenjar, Alexandra; Agrawal, Pankaj B.; Anderson, Ilse J.; Atwal, Paldeep S.; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Castiglia, Lucia; Coban-Akdemir, Zeynep H.; van Dijck, Anke; Doummar, Diane; van Eerde, Albertien M.; van Essen, Anthonie J.; van Gassen, Koen L.; Sacoto, Maria J. Guillen; van Haelst, Mieke M.; Iossifov, Ivan; Jackson, Jessica L.; Judd, Elizabeth; Kaiwar, Charu; Keren, Boris; Klee, Eric W.; Wassink-Ruiter, Jolien S. Klein; Meuwissen, Marije E.; Monaghan, Kristin G.; de Munnik, Sonja A.; Nava, Caroline; Ockeloen, Charlotte W.; Pettinato, Rosa; Racher, Hilary; Rinne, Tuula; Romano, Corrado; Sanders, Victoria R.; Schnur, Rhonda E.; Smeets, Eric J.; Stegmann, Alexander P. A.; Stray-Pedersen, Asbjorg; Sweetser, David A.; Terhal, Paulien A.; Tveten, Kristian; VanNoy, Grace E.; de Vries, Petra F.; Waxler, Jessica L.; Willing, Marcia; Pfundt, Rolph; Veltman, Joris A.; Kooy, R. Frank; Vissers, Lisenka E. L. M.; de Vries, Bert B. A. Share Save
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A.; Bongers, Ernie M. H. F.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlene; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M. P. C. D.; Terhal, Paulien A.; van Gassen, Koen L.; Verbeek, Nienke; Henry, Sonja; Schwoerer, Jessica Scott; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R.; Macnamara, Ellen; Braakman, Hilde M. H.; Brimble, Elise; Ruznikov, Maura R. Z.; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Kuechler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B. A.; Gordon, Christopher T.; Janssens, Veerle; Vissers, Lisenka E. L. M. Share Save
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Blok, Lot Snijders; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H.; Nowak, Catherine B.; Douglas, Jessica; Swoboda, Kathryn J.; Steeves, Marcie A.; Sahai, Inderneel; Stumpel, Connie T. R. M.; Stegmann, Alexander P. A.; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T.; Cohen, Ana S. A.; Agbahovbe, Ruky; Innes, A. Micheil; Au, P. Y. Billie; Rankin, Julia; Anderson, Ilse J.; Skinner, Steven A.; Louie, Raymond J.; Warren, Hannah E.; Afenjar, Alexandra; Keren, Boris; Nava, Caroline; Buratti, Julien; Isapof, Arnaud; Rodriguez, Diana; Lewandowski, Raymond; Propst, Jennifer; van Essen, Ton; Choi, Murim; Lee, Sangmoon; Chae, Jong H.; Price, Susan; Schnur, Rhonda E.; Douglas, Ganka; Wentzensen, Ingrid M.; Zweier, Christiane; Reis, Andre; Bialer, Martin G.; Moore, Christine; Koopmans, Marije; Brilstra, Eva H.; Monroe, Glen R.; van Gassen, Koen L., I; van Binsbergen, Ellen; Newbury-Ecob, Ruth; Bownass, Lucy; Bader, Ingrid; Mayr, Johannes A.; Wortmann, Saskia B.; Jakielski, Kathy J.; Strand, Edythe A.; Kloth, Katja; Bierhals, Tatjana; Roberts, John D.; Petrovich, Robert M.; Machida, Shinichi; Kurumizaka, Hitoshi; Lelieveld, Stefan; Pfundt, Rolph; Jansen, Sandra; Deriziotis, Pelagia; Faivre, Laurence; Thevenon, Julien; Assoum, Mirna; Shriberg, Lawrence; Kleefstra, Tjitske; Brunner, Han G.; Wade, Paul A.; Fisher, Simon E.; Campeau, Philippe M. Share Save
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency Jansen, Sandra; Hoischen, Alexander; Coe, Bradley P.; Carvill, Gemma L.; Van Esch, Hilde; Bosch, Danielle G. M.; Andersen, Ulla A.; Baker, Carl; Bauters, Marijke; Bernier, Raphael A.; van Bon, Bregje W.; Claahsen-van der Grinten, Hedi L.; Gecz, Jozef; Gilissen, Christian; Grillo, Lucia; Hackett, Anna; Kleefstra, Tjitske; Koolen, David; Kvarnung, Malin; Larsen, Martin J.; Marcelis, Carlo; McKenzie, Fiona; Monin, Marie-Lorraine; Nava, Caroline; Schuurs-Hoeijmakers, Janneke H.; Pfundt, Rolph; Steehouwer, Marloes; Stevens, Servi J. C.; Stumpel, Connie T.; Vansenne, Fleur; Vinci, Mirella; van de Vorst, Maartje; de Vries, Petra; Witherspoon, Kali; Veltman, Joris A.; Brunner, Han G.; Mefford, Heather C.; Romano, Corrado; Vissers, Lisenka E. L. M.; Eichler, Evan E.; de Vries, Bert B. A. Share Save
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype Lamers, Ideke J. C.; Reijnders, Margot R. F.; Venselaar, Hanka; Kraus, Alison; Jansen, Sandra; de Vries, Bert B. A.; Houge, Gunnar; Gradek, Gyri Aasland; Seo, Jieun; Choi, Murim; Chae, Jong-Hee; van der Burgt, Ineke; Pfundt, Rolph; Letteboer, Stef J. F.; van Beersum, Sylvia E. C.; Dusseljee, Simone; Brunner, Han G.; Doherty, Dan; Kleefstra, Tjitske; Roepman, Ronald Share Save
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