Not logged in ARTICLE Natural history of adults with KBG syndrome: A physician-reported experience Bayat, Allan; Grimes, Hannah; de Boer, Elke; Herlin, Morten Krogh; Dahl, Rebekka Staal; Lund, Ida Charlotte Bay; Bayat, Michael; Bolund, Anneli Clea Skjelmose; Gjerulfsen, Cathrine Elisabeth; Gregersen, Pernille Axel; Zilmer, Monica; Juhl, Stefan; Cebula, Katarzyna; Rahikkala, Elisa; Maystadt, Isabelle; Peron, Angela; Vignoli, Aglaia; Alfano, Rosa Maria; Stanzial, Franco; Benedicenti, Francesco; Curro, Aurora; Luk, Ho-Ming; Jouret, Guillaume; Zurita, Ella; Heuft, Lara; Schnabel, Franziska; Busche, Andreas; Veenstra-Knol, Hermine Elisabeth; Tkemaladze, Tinatin; Vrielynck, Pascal; Lederer, Damien; Platzer, Konrad; Ockeloen, Charlotte Wilhelmina; Goel, Himanshu; Low, Karen Jaqueline Share Save
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders (vol 108, pg 1692, 2021) Stolz, Jacob R.; Foote, Kendall M.; Veenstra-Knol, Hermine E.; Pfundt, Rolph; ten Broeke, Sanne W.; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Ounap, Katrin; Stark, Zornitza; Kirk, Edwin P.; Lawson, John A.; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J.; Rogers, R. Curtis; Davis, Jessica M.; Innes, A. Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M.; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Ruivenkamp, Claudia A. L.; van Bon, Bregje W.; Kennedy, Joanna; Low, Karen J.; Ellard, Sian; Pang, Lewis; Junewick, Joseph J.; Mark, Paul R.; Carvill, Gemma L.; Swanson, Geoffrey T. Share Save
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON Dingemans, Alexander J. M.; Truijen, Kim M. G.; Kim, Jung-Hyun; Alacam, Zahide; Faivre, Laurence; Collins, Kathleen M.; Gerkes, Erica H.; van Haelst, Mieke; van de Laar, Ingrid M. B. H.; Lindstrom, Kristin; Nizon, Mathilde; Pauling, James; Heropolitanska-Pliszka, Edyta; Plomp, Astrid S.; Racine, Caroline; Sachdev, Rani; Sinnema, Margje; Skranes, Jon; Veenstra-Knol, Hermine E.; Verberne, Eline A.; Vulto-van Silfhout, Anneke T.; Wilsterman, Marlon E. F.; Ahn, Eun-Young Erin; de Vries, Bert B. A.; Vissers, Lisenka E. L. M. Share Save
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila Goodman, Lindsey D.; Cope, Heidi; Nil, Zelha; Ravenscroft, Thomas A.; Charng, Wu-Lin; Lu, Shenzhao; Tien, An-Chi; Pfundt, Rolph; Koolen, David A.; Haaxma, Charlotte A.; Veenstra-Knol, Hermine E.; Wassink-Ruiter, Jolien S. Klein; Wevers, Marijke R.; Jones, Melissa; Walsh, Laurence E.; Klee, Victoria H.; Theunis, Miel; Legius, Eric; Steel, Dora; Barwick, Katy E. S.; Kurian, Manju A.; Mohammad, Shekeeb S.; Dale, Russell C.; Terhal, Paulien A.; van Binsbergen, Ellen; Kirmse, Brian; Robinette, Bethany; Cogne, Benjamin; Isidor, Bertrand; Grebe, Theresa A.; Kulch, Peggy; Hainline, Bryan E.; Sapp, Katherine; Morava, Eva; Klee, Eric W.; Macke, Erica L.; Trapane, Pamela; Spencer, Christopher; Si, Yue; Begtrup, Amber; Moulton, Matthew J.; Dutta, Debdeep; Kanca, Oguz; Wangler, Michael F.; Yamamoto, Shinya; Bellen, Hugo J.; Tan, Queenie K-G Share Save
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders Stolz, Jacob R.; Foote, Kendall M.; Veenstra-Knol, Hermine E.; Pfundt, Rolph; ten Broeke, Sanne W.; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Ounap, Katrin; Stark, Zornitza; Kirk, Edwin P.; Lawson, John A.; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J.; Rogers, R. Curtis; Davis, Jessica M.; Innes, A. Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M.; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q. C. M.; Peeters-Scholte, Cacha M. P. C. D.; Ruivenkamp, Claudia A. L.; van Bon, Bregje W.; Kennedy, Joanna; Low, Karen J.; Ellard, Sian; Pang, Lewis; Junewick, Joseph J.; Mark, Paul R.; Carvill, Gemma L.; Swanson, Geoffrey T. Share Save
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism Chopra, Maya; McEntagart, Meriel; Clayton-Smith, Jill; Platzer, Konrad; Shukla, Anju; Girisha, Katta M.; Kaur, Anupriya; Kaur, Parneet; Pfundt, Rolph; Veenstra-Knol, Hermine; Mancini, Grazia M. S.; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Kortuem, Fanny; Hempel, Maja; Denecke, Jonas; Lehman, Anna; Kleefstra, Tjitske; Stuurman, Kyra E.; Wilke, Martina; Thompson, Michelle L.; Bebin, E. Martina; Bijlsma, Emilia K.; Hoffer, Mariette J., V; Peeters-Scholte, Cacha; Slavotinek, Anne; Weiss, William A.; Yip, Tiffany; Hodoglugil, Ugur; Whittle, Amy; Monda, Janettedi; Neira, Juanita; Yang, Sandra; Kirby, Amelia; Pinz, Hailey; Lechner, Rosan; Sleutels, Frank; Helbig, Ingo; McKeown, Sarah; Helbig, Katherine; Willaert, Rebecca; Juusola, Jane; Semotok, Jennifer; Hadonou, Medard; Short, John; Yachelevich, Naomi; Lala, Sajel; Fernandez-Jaen, Alberto; Pelayo, Janvier Porta; Kloeckner, Chiara; Kamphausen, Susanne B.; Abou Jamra, Rami; Arelin, Maria; Innes, A. Micheil; Niskakoski, Anni; Amin, Sam; Williams, Maggie; Evans, Julie; Smithson, Sarah; Smedley, Damian; Burca, Annade; Kini, Usha; Delatycki, Martin B.; Gallacher, Lyndon; Yeung, Alison; Pais, Lynn; Field, Michael; Martin, Ellenore; Charles, Perrine; Courtin, Thomas; Keren, Boris; Iascone, Maria; Cereda, Anna; Poke, Gemma; Abadie, Veronique; Chalouhi, Christel; Parthasarathy, Padmini; Halliday, Benjamin J.; Robertson, Stephen P.; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T. Share Save
De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability Wijnen, Iris G. M.; Veenstra-Knol, Hermine E.; Vansenne, Fleur; Gerkes, Erica H.; de Koning, Tom; Vos, Yvonne J.; Tijssen, Marina A. J.; Sival, Deborah; Darin, Niklas; Vanhoutte, Els K.; Oosterloo, Mayke; Pennings, Maartje; van de Warrenburg, Bart P.; Kamsteeg, Erik-Jan Share Save
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 (vol 102, pg 1115, 2018) Cameron-Christie, Sophia R.; Wells, Constance F.; Simon, Marleen; Wessels, Marja; Tang, Candy Z. N.; Wei, Wenhua; Takei, Riku; Aarts-Tesselaar, Coranne; Sandaradura, Sarah; Sillence, David O.; Cordier, Marie-Pierre; Veenstra-Knol, Hermine E.; Cassina, Matteo; Ludwig, Kathrin; Trevisson, Eva; Bahlo, Melanie; Markie, David M.; Jenkins, Zandra A.; Robertson, Stephen P. 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
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 Cameron-Christie, Sophia R.; Wells, Constance F.; Simon, Marleen; Wessels, Marja; Tang, Candy Z. N.; Wei, Wenhua; Takei, Riku; Aarts-Tesselaar, Coranne; Sandaradura, Sarah; Sillence, David O.; Cordier, Marie-Pierre; Veenstra-Knol, Hermine E.; Cassina, Matteo; Ludkig, Kathrin; Trevisson, Eva; Bahlo, Melanie; Markie, David M.; Jenkins, Zandra A.; Robertson, Stephen P. Share Save
EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction de Boer, Anneke; Vermeulen, Karlijn; Egger, Jos I. M.; Janzing, Joost G. E.; de Leeuw, Nicole; Veenstra-Knol, Hermine E.; den Hollander, Nicolette S.; van Bokhoven, Hans; Staal, Wouter; Kleefstra, Tjitske Share Save
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy Wortmann, Saskia B.; Timal, Sharita; Venselaar, Hanka; Wintjes, Liesbeth T.; Kopajtich, Robert; Feichtinger, Rene G.; Onnekink, Carla; Muhlmeister, Mareike; Brandt, Ulrich; Smeitink, Jan A.; Veltman, Joris A.; Sperl, Wolfgang; Lefeber, Dirk; Pruijn, Ger; Stojanovic, Vesna; Freisinger, Peter; von Spronsen, Francjan; Derks, Terry G. J.; Veenstra-Knol, Hermine E.; Mayr, Johannes A.; Rotig, Agnes; Tarnopolsky, Mark; Prokisch, Holger; Rodenburg, Richard J. Share Save
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability Bramswig, Nuria C.; Luedecke, Hermann-Josef; Hamdan, Fadi F.; Altmueller, Janine; Beleggia, Filippo; Elcioglu, Nursel H.; Freyer, Catharine; Gerkes, Erica H.; Demirkol, Yasemin Kendir; Knupp, Kelly G.; Kuechler, Alma; Li, Yun; Lowenstein, Daniel H.; Michaud, Jacques L.; Park, Kristen; Stegmann, Alexander P. A.; Veenstra-Knol, Hermine E.; Wieland, Thomas; Wollnik, Bernd; Engels, Hartmut; Strom, Tim M.; Kleefstra, Tjitske; Wieczorek, Dagmar Share Save
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity Witteveen, Josefine S.; Willemsen, Marjolein H.; Dombroski, Thais C. D.; van Bakel, Nick H. M.; Nillesen, Willy M.; van Hulten, Josephus A.; Jansen, Eric J. R.; Verkaik, Dave; Veenstra-Knol, Hermine E.; van Ravenswaaij-Arts, Conny M. A.; Wassink-Ruiter, Jolien S. Klein; Vincent, Marie; David, Albert; Le Caignec, Cedric; Schieving, Jolanda; Gilissen, Christian; Foulds, Nicola; Rump, Patrick; Strom, Tim; Cremer, Kirsten; Zink, Alexander M.; Engels, Hartmut; de Munnik, Sonja A.; Visser, Jasper E.; Brunner, Han G.; Martens, Gerard J. M.; Pfundt, Rolph; Kleefstra, Tjitske; Kolk, Sharon M. Share Save
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations Reijnders, Margot R. F.; Zachariadis, Vasilios; Latour, Brooke; Jolly, Lachlan; Mancini, Grazia M.; Pfundt, Rolph; Wu, Ka Man; van Ravenswaaij-Arts, Conny M. A.; Veenstra-Knol, Hermine E.; Anderlid, Britt-Marie M.; Wood, Stephen A.; Cheung, Sau Wai; Barnicoat, Angela; Probst, Frank; Magoulas, Pilar; Brooks, Alice S.; Malmgren, Helena; Harila-Saari, Arja; Marcelis, Carlo M.; Vreeburg, Maaike; Hobson, Emma; Sutton, V. Reid; Stark, Zornitza; Vogt, Julie; Cooper, Nicola; Lim, Jiin Ying; Price, Sue; Lai, Angeline Hwei Meeng; Domingo, Deepti; Reversade, Bruno; Gecz, Jozef; Gilissen, Christian; Brunner, Han G.; Kini, Usha; Roepman, Ronald; Nordgren, Ann; Kleefstra, Tjitske Share Save
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression Frank, Valeska; Habbig, Sandra; Bartram, Malte P.; Eisenberger, Tobias; Veenstra-Knol, Hermine E.; Decker, Christian; Boorsma, Reinder A. C.; Goebel, Heike; Nuernberg, Gudrun; Griessmann, Anabel; Franke, Mareike; Borgal, Lori; Kohli, Priyanka; Voelker, Linus A.; Doetsch, Joerg; Nuernberg, Peter; Benzing, Thomas; Bolz, Hanno J.; Johnson, Colin; Gerkes, Erica H.; Schermer, Bernhard; Bergmann, Carsten Share Save
Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease Stasia, Marie J.; Mollin, Michele; Martel, Cecile; Satre, Veronique; Coutton, Charles; Amblard, Florence; Vieville, Gaelle; van Montfrans, Joris M.; Boelens, Jaap J.; Veenstra-Knol, Hermine E.; van Leeuwen, Karen; de Boer, Martin; Brion, Jean-Paul; Roos, Dirk Share Save
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics Hanemaaijer, Nicolien M.; Sikkema-Raddatz, Birgit; van der Vries, Gerben; Dijkhuizen, Trijnie; Hordijk, Roel; van Essen, Anthonie J.; Veenstra-Knol, Hermine E.; Kerstjens-Frederikse, Wilhelmina S.; Herkert, Johanna C.; Gerkes, Erica H.; Leegte, Lamberta K.; Kok, Klaas; Sinke, Richard J.; van Ravenswaaij-Arts, Conny M. A. Share Save
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines Herkert, Johanna C.; Niessen, Renee C.; Olderode-Berends, Maria J. W.; Veenstra-Knol, Hermine E.; Vos, Yvonne J.; van der Klift, Heleen M.; Scheenstra, Rene; Tops, Carli M. J.; Karrenbeld, Arend; Peters, Frans T. M.; Hofstra, Robert M. W.; Kleibeuker, Jan H.; Sijmons, Rolf H. Share Save
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