Not logged in De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias Sandal, Priyanka; Jong, Chian Ju; Merrill, Ronald A.; Kollman, Grace J.; Paden, Austin H.; Bend, Eric G.; Sullivan, Jennifer; Spillmann, Rebecca C.; Shashi, Vandana; Vulto-van Silfhout, Anneke T.; Pfundt, Rolph; de Vries, Bert B. A.; Li, Pan P.; Bicknell, Louise S.; Strack, Stefan Share Save
Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy Quiros, Vincent Moya; Adham, Ahmed; Convers, Philippe; Lesca, Gaetan; Mauguiere, Francois; Soulier, Hugo; Arzimanoglou, Alexis; Bayat, Allan; Braakman, Hilde; Camdessanche, Jean-Philippe; Casenave, Philippe; Chaton, Laurence; Chaix, Yves; Chochoi, Maxime; Depienne, Christel; Desportes, Vincent; De Ridder, Jessie; Dinkelacker, Vera; Gardella, Elena; Kluger, Gerhard J.; Jung, Julien; Martin, Martine Lemesle; Mancardi, Maria Margherita; Mueller, Markus; Poulat, Anne-Lise; Platzer, Konrad; Roubertie, Agathe; Stokman, Marijn F.; Vulto-van Silfhout, Anneke T.; Wiegand, Gert; Mazzola, Laure 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
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities Cali, Elisa; Suri, Mohnish; Scala, Marcello; Ferla, Matteo P.; Alavi, Shahryar; Faqeih, Eissa Ali; Bijlsma, Emilia K.; Wigby, Kristen M.; Baralle, Diana; Mehrjardi, Mohammad Y., V; Schwab, Jennifer; Platzer, Konrad; Steindl, Katharina; Hashem, Mais; Jones, Marilyn; Niyazov, Dmitriy M.; Jacober, Jennifer; Littlejohn, Rebecca Okashah; Weis, Denisa; Zadeh, Neda; Rodan, Lance; Goldenberg, Alice; Lecoquierre, Francois; Dutra-Clarke, Marina; Horvath, Gabriella; Young, Dana; Orenstein, Naama; Bawazeer, Shahad; Vulto-van Silfhout, Anneke T.; Herenger, Yvan; Dehghani, Mohammadreza; Seyedhassani, Seyed Mohammad; Bahreini, Amir; Nasab, Mahya E.; Ercan-Sencicek, A. Gulhan; Firoozfar, Zahra; Movahedinia, Mojtaba; Efthymiou, Stephanie; Striano, Pasquale; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Taylor, Jenny C.; Redman, Melody; Stegmann, Alexander P. A.; Laner, Andreas; Abdel-Salam, Ghada; Li, Megan; Bengala, Mario; Muller, Amelie Johanna; Digilio, Maria C.; Rauch, Anita; Gunel, Murat; Titheradge, Hannah; Schweitzer, Daniela N.; Kraus, Alison; Valenzuela, Irene; McLean, Scott D.; Phornphutkul, Chanika; Salih, Mustafa; Begtrup, Amber; Schnur, Rhonda E.; Torti, Erin; Haack, Tobias B.; Prada, Carlos E.; Alkuraya, Fowzan S.; Houlden, Henry; Maroofian, Reza Share Save
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder Meuwissen, Marije; Verstraeten, Aline; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Bastiaansen, Maaike; Mateiu, Ligia; Nemegeer, Merlijn; Meester, Josephina A. N.; Afenjar, Alexandra; Amaral, Michelle; Ballhausen, Diana; Barnett, Sarah; Barth, Magalie; Asselbergh, Bob; Spaas, Katrien; Heeman, Bavo; Bassetti, Jennifer; Blackburn, Patrick; Schaer, Marie; Blanc, Xavier; Zoete, Vincent; Casas, Kari; Courtin, Thomas; Doummar, Diane; Guerry, Frederic; Keren, Boris; Pappas, John; Rabin, Rachel; Begtrup, Amber; Shinawi, Marwan; Vulto-van Silfhout, Anneke T.; Kleefstra, Tjitske; Wagner, Matias; Ziegler, Alban; Schaefer, Elise; Gerard, Benedicte; De Bie, Charlotte, I; Holwerda, Sjoerd J. B.; Abbot, Mary Alice; Antonarakis, Stylianos E.; Loeys, Bart Share Save
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity Cornelis, Stephanie S.; Runhart, Esmee H.; Bauwens, Miriam; Corradi, Zelia; De Baere, Elfride; Roosing, Susanne; Haer-Wigman, Lonneke; Dhaenens, Claire-Marie; Vulto-van Silfhout, Anneke T.; Cremers, Frans P. M. 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
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females Polla, D. L.; Bhoj, E. J.; Verheij, J. B. G. M.; Wassink-Ruiter, J. S. Klein; Reis, A.; Deshpande, C.; Gregor, A.; Hill-Karfe, K.; Vulto-van Silfhout, A. T.; Pfundt, R.; Bongers, E. M. H. F.; Hakonarson, H.; Berland, S.; Gradek, G.; Banka, S.; Chandler, K.; Gompertz, L.; Huffels, S. C.; Stumpel, C. T. R. M.; Wennekes, R.; Stegmann, A. P. A.; Reardon, W.; Leenders, E. K. S. M.; de Vries, B. B. A.; Li, D.; Zackai, E.; Ragge, N.; Lynch, S. A.; Cuddapah, S.; van Bokhoven, H.; Zweier, C.; de Brouwer, A. P. M. Share Save
Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance Thai, Monica H. N.; Gardner, Alison; Redpath, Laura; Mattiske, Tessa; Dearsley, Oliver; Shaw, Marie; Vulto-van Silfhout, Anneke T.; Pfundt, Rolph; Dixon, Joanne; McGaughran, Julie; Perez-Jurado, Luis A.; Gecz, Jozef; Shoubridge, Cheryl 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
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 and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism Diets, Illja J.; van der Donk, Roos; Baltrunaite, Kristina; Waanders, Esme; Reijnders, Margot R. F.; Dingemans, Alexander J. M.; Pfundt, Rolph; Vulto-van Silfhout, Anneke T.; Wiel, Laurens; Gilissen, Christian; Thevenon, Julien; Perrin, Laurence; Afenjar, Alexandra; Nava, Caroline; Keren, Boris; Bartz, Sarah; Peri, Bethany; Beunders, Gea; Verbeek, Nienke; van Gassen, Koen; Thiffault, Isabelle; Cadieux-Dion, Maxime; Huerta-Saenz, Lina; Wagner, Matias; Konstantopoulou, Vassiliki; Vodopiutz, Julia; Griese, Matthias; Boel, Annekatrien; Callewaert, Bert; Brunner, Han G.; Kleefstra, Tjitske; Hoogerbrugge, Nicoline; de Vries, Bert B. A.; Hwa, Vivian; Dauber, Andrew; Hehir-Kwa, Jayne Y.; Kuiper, Roland P.; Jongmans, Marjolijn C. J. Share Save
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP Van Dijck, Anke; Vulto-van Silfhout, Anneke T.; Cappuyns, Elisa; van der Werf, Ilse M.; Mancini, Grazia M.; Tzschach, Andreas; Bernier, Raphael; Gozes, Illana; Eichler, Evan E.; Romano, Corrado; Lindstrand, Anna; Nordgren, Ann; Kvarnung, Malin; Kleefstra, Tjitske; de Vries, Bert B. A.; Kury, Sebastien; Rosenfeld, Jill A.; Meuwissen, Marije E.; Vandeweyer, Geert; Kooy, R. Frank; Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Celine; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabiola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Riess, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H. E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; Gonzalez-Lamuno, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjold, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Vergano, Samantha A. Schrier; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah Share Save
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YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction Gabriele, Michele; Vulto-van Silfhout, Anneke T.; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman; Douglas, Evelyn; Haan, Eric; Kosaki, Kenjiro; Takenouchi, Toshiki; Rauch, Anita; Steindl, Katharina; Frengen, Eirik; Misceo, Doriana; Pedurupillay, Christeen Ramane J.; Stromme, Petter; Rosenfeld, Jill A.; Shao, Yunru; Craigen, William J.; Schaaf, Christian P.; Rodriguez-Buritica, David; Farach, Laura; Friedman, Jennifer; Thulin, Perla; McLean, Scott D.; Nugent, Kimberly M.; Morton, Jenny; Nicholl, Jillian; Andrieux, Joris; Stray-Pedersen, Asbjorg; Chambon, Pascal; Patrier, Sophie; Lynch, Sally A.; Kjaergaard, Susanne; Torring, Pernille M.; Brasch-Andersen, Charlotte; Ronan, Anne; van Haeringen, Arie; Anderson, Peter J.; Powis, Zoe; Brunner, Han G.; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H. M.; van Bon, Bregje W. M.; Lelieveld, Stefan; Gilissen, Christian; Nillesen, Willy M.; Vissers, Lisenka E. L. M.; Gecz, Jozef; Koolen, David A.; Testa, Giuseppe; de Vries, Bert B. A. Share Save
Quantification of Phenotype Information Aids the Identification of Novel Disease Genes Vulto-van Silfhout, Anneke T.; Gilissen, Christian; Goeman, Jelle J.; Jansen, Sandra; van Amen-Hellebrekers, Claudia J. M.; van Bon, Bregje W. M.; Koolen, David A.; Sistermans, Erik A.; Brunner, Han G.; de Brouwer, Arjan P. M.; de Vries, Bert B. A. Share Save
De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila Lugtenberg, Dorien; Reijnders, Margot R. F.; Fenckova, Michaela; Bijlsma, Emilia K.; Bernier, Raphael; van Bon, Bregje W. M.; Smeets, Eric; Vulto-van Silfhout, Anneke T.; Bosch, Danielle; Eichler, Evan E.; Mefford, Heather C.; Carvill, Gemma L.; Bongers, Ernie M. H. F.; Schuurs-Hoeijmakers, Janneke H. M.; Ruivenkamp, Claudia A.; Santen, Gijs W. E.; van den Maagdenberg, Arn M. J. M.; Peeters-Scholte, Cacha M. P. C. D.; Kuenen, Sabine; Verstreken, Patrik; Pfundt, Rolph; Yntema, Helger G.; de Vries, Petra F.; Veltman, Joris A.; Hoischen, Alexander; Gilissen, Christian; de Vries, Bert B. A.; Schenck, Annette; Kleefstra, Tjitske; Vissers, Lisenka E. L. M. Share Save
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes Marchegiani, Shannon; Davis, Taylor; Tessadori, Federico; van Haaften, Gijs; Brancati, Francesco; Hoischen, Alexander; Huang, Haigen; Valkanas, Elise; Pusey, Barbara; Schanze, Denny; Venselaar, Hanka; Vulto-van Silfhout, Anneke T.; Wolfe, Lynne A.; Tifft, Cynthia J.; Zerfas, Patricia M.; Zambruno, Giovanna; Kariminejad, Ariana; Sabbagh-Kermani, Farahnaz; Lee, Janice; Tsokos, Maria G.; Lee, Chyi-Chia R.; Ferraz, Victor; da Silva, Eduarda Morgana; Stevens, Cathy A.; Roche, Nathalie; Bartsch, Oliver; Farndon, Peter; Bermejo-Sanchez, Eva; Brooks, Brian P.; Maduro, Valerie; Dallapiccola, Bruno; Ramos, Feliciano J.; Chung, Hon-Yin Brian; Le Caignec, Cedric; Martins, Fabiana; Jacyk, Witold K.; Mazzanti, Laura; Brunner, Han G.; Bakkers, Jeroen; Lin, Shuo; Malicdan, May Christine V.; Boerkoel, Cornelius F.; Gahl, William A.; de Vries, Bert B. A.; van Haelst, Mieke M.; Zenker, Martin; Markello, Thomas C. Share Save
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