Not logged in DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review Kennis, Milou G. P.; Rots, Dmitrijs; Bouman, Arjan; Ockeloen, Charlotte W.; Boelen, Caroline; Marcelis, Carlo L. M.; de Vries, Bert B. A.; Elting, Mariet W.; Waisfisz, Quinten; Suri, Mohnish; Font-Montgomery, Esperanza; Peck, Dawn S.; Donnelly, Deirdre E.; Rogers, R. Curtis; Richardson, Ruth; Caumes, Roseline; Chaumette, Boris; Louveau, Cecile; Sallevelt, Suzanne C. E. H.; Maas, Saskia M.; Smits, Jeroen J.; van Haelst, Mieke M.; Levy, Rebecca J.; Stewart, Helen; Loeys, Bart L.; Pfundt, Rolph; Kleefstra, Tjitske; Blok, Lot Snijders Share Save
Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis Mackay, Deborah J. G.; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M.; Kalish, Jennifer M.; Maas, Saskia M.; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaityte, Laima; Burnyte, Birute; Cerrato, Flavia; Davies, Justin H.; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I.; Ounap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R.; Lapunzina, Pablo; Netchine, Irene; Eggermann, Thomas; Bliek, Jet; Tumer, Zeynep 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
Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS) Verhoeven, Dorit; Schonenberg-Meinema, Dieneke; Ebstein, Frederic; Papendorf, Jonas J.; Baars, Paul A.; van Leeuwen, Ester M. M.; Jansen, Machiel H.; Lankester, Arjan C.; van der Burg, Mirjam; Florquin, Sandrine; Maas, Saskia M.; van Koningsbruggen, Silvana; Krueger, Elke; van den Berg, J. Merlijn; Kuijpers, Taco W. Share Save
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 Krab, Lianne C.; Marcos-Alcalde, Inigo; Assaf, Melissa; Balasubramanian, Meena; Andersen, Janne Bayer; Bisgaard, Anne-Marie; Fitzpatrick, David R.; Gudmundsson, Sanna; Huisman, Sylvia A.; Kalayci, Tugba; Maas, Saskia M.; Martinez, Francisco; McKee, Shane; Menke, Leonie A.; Mulder, Paul A.; Murch, Oliver D.; Parker, Michael; Pie, Juan; Ramos, Feliciano J.; Rieubland, Claudine; Mokry, Jill A. Rosenfeld; Scarano, Emanuela; Shinawi, Marwan; Gomez-Puertas, Paulino; Tumer, Zeynep; Hennekam, Raoul C. 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
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder Blok, Lot Snijders; Kleefstra, Tjitske; Venselaar, Hanka; Maas, Saskia; Kroes, Hester Y.; Lachmeijer, Augusta M. A.; van Gassen, Koen L., I; Firth, Helen, V; Tomkins, Susan; Bodek, Simon; Study, The D. D. D.; Ounap, Katrin; Wojcik, Monica H.; Cunniff, Christopher; Bergstrom, Katherine; Powis, Zoe; Tang, Sha; Shinde, Deepali N.; Au, Catherine; Iglesias, Alejandro D.; Izumi, Kosuke; Leonard, Jacqueline; Abou Tayoun, Ahmad; Baker, Samuel W.; Tartaglia, Marco; Niceta, Marcello; Dentici, Maria Lisa; Okamoto, Nobuhiko; Miyake, Noriko; Matsumoto, Naomichi; Vitobello, Antonio; Faivre, Laurence; Philippe, Christophe; Gilissen, Christian; Wiel, Laurens; Pfundt, Rolph; Deriziotis, Pelagia; Brunner, Han G.; Fisher, Simon E. 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
SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy Vlaskamp, Danique R. M.; Shaw, Benjamin J.; Burgess, Rosemary; Mei, Davide; Montomoli, Martino; Xie, Han; Myers, Candace T.; Bennett, Mark F.; XiangWei, Wenshu; Williams, Danielle; Maas, Saskia M.; Brooks, Alice S.; Mancini, Grazia M. S.; van de Laar, Ingrid M. B. H.; van Hagen, Johanna M.; Ware, Tyson L.; Webster, Richard I.; Malone, Stephen; Berkovic, Samuel F.; Kalnins, Renate M.; Sicca, Federico; Korenke, G. Christoph; van Ravenswaaij-Arts, Conny M. A.; Hildebrand, Michael S.; Mefford, Heather C.; Jiang, Yuwu; Guerrini, Renzo; Scheffer, Ingrid E. Share Save
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease Sribudiani, Yunia; Chauhan, Rajendra K.; Alves, Maria M.; Petrova, Lucy; Brosens, Erwin; Harrison, Colin; Wabbersen, Tara; de Graaf, Bianca M.; Rugenbrink, Tim; Burzynski, Grzegorz; Brouwer, Rutger W. W.; van IJcken, Wilfred F. J.; Maas, Saskia M.; de Klein, Annelies; Osinga, Jan; Eggen, Bart J. L.; Burns, Alan J.; Brooks, Alice S.; Shepherd, Iain T.; Hofstra, Robert M. W. Share Save
Further delineation of Malan syndrome Priolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A.; Tenorio, Jair; Kooblall, Kreepa; Hernandez Acero, Ines; Alkuraya, Fowzan S.; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K.; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H.; Fahrner, Jill A.; Foster, Alison; Garcia Gonzalez, Noelia; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M.; Mammi, Corrado; Mathijssen, Inge B.; McKee, Shane; Menke, Leonie A.; Mirzaa, Ghayda M.; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E.; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S.; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Maria Valdez, Rita; Van Haeringen, Arie; Van Hagen, Johanna M.; Zollino, Marcela; Lapunzina, Pablo; Thakker, Rajesh V.; Zenker, Martin; Hennekam, Raoul C. Share Save
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement Brioude, Frederic; Kalish, Jennifer M.; Mussa, Alessandro; Foster, Alison C.; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E.; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D.; Krajewska-Walasek, Malgorzata; Kratz, Christian P.; Ladusans, Edmund J.; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M.; Macdonald, Fiona; Ounap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skorka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Gronskov, Karen; Netchine, Irene; Hennekam, Raoul C.; Prawitt, Dirk; Tumer, Zeynep; Eggermann, Thomas; Mackay, Deborah J. G.; Riccio, Andrea; Maher, Eamonn R. Share Save
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Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases Novara, Francesca; Rinaldi, Berardo; Sisodiya, Sanjay M.; Coppola, Antonietta; Giglio, Sabrina; Stanzial, Franco; Benedicenti, Francesco; Donaldson, Alan; Andrieux, Joris; Stapleton, Rachel; Weber, Astrid; Reho, Paolo; van Ravenswaaij-Arts, Conny; Kerstjens-Frederikse, Wilhelmina S.; Vermeesch, Joris Robert; Devriendt, Koenraad; Bacino, Carlos A.; Delahaye, Andree; Maas, S. M.; Iolascon, Achille; Zuffardi, Orsetta Share Save
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations Soblet, Julie; Kangas, Jaakko; Natynki, Marjut; Mendola, Antonella; Helaers, Raphael; Uebelhoer, Melanie; Kaakinen, Mika; Cordisco, Maria; Dompmartin, Anne; Enjolras, Odile; Holden, Simon; Irvine, Alan D.; Kangesu, Loshan; Leaute-Labreze, Christine; Lanoel, Agustina; Lokmic, Zerina; Maas, Saskia; McAleer, Maeve A.; Penington, Anthony; Rieu, Paul; Syed, Samira; van der Vleuten, Carine; Watson, Rosemarie; Fishman, Steven J.; Mulliken, John B.; Eklund, Lauri; Limaye, Nisha; Boon, Laurence M.; Vikkula, Miikka Share Save
Opposite effects on facial morphology due to gene dosage sensitivity Hammond, Peter; McKee, Shane; Suttie, Michael; Allanson, Judith; Cobben, Jan-Maarten; Maas, Saskia M.; Quarrell, Oliver; Smith, Ann C. M.; Lewis, Suzanne; Tassabehji, May; Sisodiya, Sanjay; Mattina, Teresa; Hennekam, Raoul Share Save
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome Moller, R. S.; Jensen, L. R.; Maas, S. M.; Filmus, J.; Capurro, M.; Hansen, C.; Marcelis, C. L. M.; Ravn, K.; Andrieux, J.; Mathieu, M.; Kirchhoff, M.; Rodningen, O. K.; de Leeuw, N.; Yntema, H. G.; Froyen, G.; Vandewalle, J.; Ballon, K.; Klopocki, E.; Joss, S.; Tolmie, J.; Knegt, A. C.; Lund, A. M.; Hjalgrim, H.; Kuss, A. W.; Tommerup, N.; Ullmann, R.; de Brouwer, A. P. M.; Stromme, P.; Kjaergaard, S.; Tuemer, Z.; Kleefstra, T. Share Save
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Van Houdt, Jeroen K. J.; Nowakowska, Beata Anna; Sousa, Sergio B.; van Schaik, Barbera D. C.; Seuntjens, Eve; Avonce, Nelson; Sifrim, Alejandro; Abdul-Rahman, Omar A.; van den Boogaard, Marie-Jose H.; Bottani, Armand; Castori, Marco; Cormier-Daire, Valerie; Deardorff, Matthew A.; Filges, Isabel; Fryer, Alan; Fryns, Jean-Pierre; Gana, Simone; Garavelli, Livia; Gillessen-Kaesbach, Gabriele; Hall, Bryan D.; Horn, Denise; Huylebroeck, Danny; Klapecki, Jakub; Krajewska-Walasek, Malgorzata; Kuechler, Alma; Lines, Matthew A.; Maas, Saskia; MacDermot, Kay D.; McKee, Shane; Magee, Alex; de Man, Stella A.; Moreau, Yves; Morice-Picard, Fanny; Obersztyn, Ewa; Pilch, Jacek; Rosser, Elizabeth; Shannon, Nora; Stolte-Dijkstra, Irene; Van Dijck, Patrick; Vilain, Catheline; Vogels, Annick; Wakeling, Emma; Wieczorek, Dagmar; Wilson, Louise; Zuffardi, Orsetta; van Kampen, Antoine H. C.; Devriendt, Koenraad; Hennekam, Raoul; Vermeesch, Joris Robert Share Save
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The Jumping SHOX Gene-Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis Kant, Sarina G.; van der Kamp, Hetty J.; Kriek, Marjolein; Bakker, Egbert; Bakker, Boudewijn; Hoffer, Mariette J. V.; van Bunderen, Patrick; Losekoot, Monique; Maas, Saskia M.; Wit, Jan M.; Rappold, Gudrun; Breuning, Martijn H. Share Save
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