Not logged in Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2 Faundes, Victor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T.; Bradley, Lisa; Brady, Angela F.; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E.; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valerie; Lederer, Damien; Banka, Siddharth Share Save
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications Lissewski, Christina; Chune, Valerie; Pantaleoni, Francesca; De Luca, Alessandro; Capri, Yline; Brinkmann, Julia; Lepri, Francesca; Daniele, Paola; Leenders, Erika; Mazzanti, Laura; Scarano, Emanuela; Radio, Francesca Clementina; Kutsche, Kerstin; Kuechler, Alma; Gerard, Marion; Ranguin, Kara; Legendre, Marine; Vial, Yoann; van der Burgt, Ineke; Rinne, Tuula; Andreucci, Elena; Mastromoro, Gioia; Digilio, Maria Cristina; Cave, Helene; Tartaglia, Marco; Zenker, Martin 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
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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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Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis van Engen-van Grunsven, Adriana C. H.; Rabold, Katrin; Kusters-Vandevelde, Heidi V. N.; Rijntjes, Jos; Djafarihamedani, Melika; Hehir-Kwa, Jayne Y.; Kusters, Benno; Willemsen, Michel A. A. P.; van der Burgt, Ineke; Wesseling, Pieter; Blokx, Willeke A. M.; Groenen, Patricia J. T. A. Share Save
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M.; Abbott, Mary-Alice; Abdul-Rahman, Omar A.; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L.; Alkuraya, Fowzan S.; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F.; Bartell, Tina; Bernstein, Jonathan A.; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M. H. F.; Brilstra, Eva H.; Brown, Chester W.; Bruggenwirth, Hennie T.; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B.; Cushing, Tom; David, Dezso; Deardorff, Matthew A.; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B. A.; Earl, Dawn L.; Ferguson, Heather L.; Fisher, Heather; FitzPatrick, David R.; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T.; Gliem, Troy; Grady, Margo; Graham, Brett H.; Griffis, Cristin; Gripp, Karen W.; Gropman, Andrea L.; Hanson-Kahn, Andrea; Harris, David J.; Hayden, Mark A.; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D.; Hopkin, Robert J.; Hubshman, Monika W.; Innes, A. Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C.; Janssens, Sandra; Jewett, Tamison; Johnson, John P.; Jongmans, Marjolijn C.; Kahler, Stephen G.; Koolen, David A.; Korzelius, Jerome; Kroisel, Peter M.; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V.; Li, Haibo; Li, Hong; Liao, Eric C.; Lim, Cynthia; Lose, Edward J.; Lucente, Diane; Macera, Michael J.; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L.; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W.; Mendoza, Cinthya J. Zepeda; Menten, Bjorn; Middelkamp, Sjors; Mikami, Liya R.; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E.; Moya, Graciela; Nieuwint, Aggie W.; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P.; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Pina Aguilar, Raul E.; Poddighe, Pino J.; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L. P.; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R.; Tagoe, Julia; Thakuria, Joseph V.; van Bon, Bregje W.; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M.; van Roosmalen, Markus J.; Vergult, Sarah; Volker-Touw, Catharina M. L.; Warburton, Dorothy P.; Waterman, Matthew J.; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A.; Zori, Roberto T.; Levy, Brynn; Brunner, Han G.; de Leeuw, Nicole; Kloosterman, Wigard P.; Thorland, Erik C.; Morton, Cynthia C.; Gusella, James F.; Talkowski, Michael E. Share Save
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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders Stessman, Holly A. F.; Willemsen, Marjolein H.; Fenckova, Michaela; Penn, Osnat; Hoischen, Alexander; Xiong, Bo; Wang, Tianyun; Hoekzema, Kendra; Vives, Laura; Voge, Ida; Brunner, Han G.; van der Burgt, Ineke; Ockeloen, Charlotte W.; Schuurs-Hoeijmakers, Janneke H.; Wassink-Ruiter, Jolien S. Klein; Stumpel, Connie; Stevens, Servi J. C.; Vles, Hans S.; Marcelis, Carlo M.; van Bokhoven, Hans; Cantagrel, Vincent; Colleaux, Laurence; Nicouleau, Michael; Lyonnet, Stanislas; Bernier, Raphael A.; Gerdts, Jennifer; Coe, Bradley P.; Romano, Corrado; Alberti, Antonino; Grillo, Lucia; Scuderi, Carmela; Nordenskjold, Magnus; Kvarnung, Malin; Guo, Hui; Xia, Kun; Piton, Amelie; Gerard, Benedicte; Genevieve, David; Delobel, Bruno; Lehalle, Daphne; Perrin, Laurence; Prieur, Fabienne; Thevenon, Julien; Gecz, Jozef; Shaw, Marie; Pfundt, Rolph; Keren, Boris; Jacquette, Aurelia; Schenck, Annette; Eichler, Evan E.; Kleefstra, Tjitske Share Save
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome Vissers, Lisenka E. L. M.; Bonetti, Monica; Overman, Jeroen Paardekooper; Nillesen, Willy M.; Frints, Suzanna G. M.; de Ligt, Joep; Zampino, Giuseppe; Justino, Ana; Machado, Jose C.; Schepens, Marga; Brunner, Han G.; Veltman, Joris A.; Scheffer, Hans; Gros, Piet; Costa, Jose L.; Tartaglia, Marco; van der Burgt, Ineke; Yntema, Helger G.; den Hertog, Jeroen Share Save
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings Croonen, Ellen A.; Nillesen, Willy M.; Stuurman, Kyra E.; Oudesluijs, Gretel; van de Laar, Ingrid M. B. M.; Martens, Liesbeth; Ockeloen, Charlotte; Mathijssen, Inge B.; Schepens, Marga; Ruiterkamp-Versteeg, Martina; Scheffer, Hans; Faas, Brigitte H. W.; van der Burgt, Ineke; Yntema, Helger G. Share Save
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Nikkel, Sarah M.; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L.; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J. M.; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E.; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; da Cunha, Bruna Santos; Delaney, Louisa A.; Destree, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M. C.; Heron, Delphine; Hoischen, Alexander; Honey, Engela Magdalena; Hoefsloot, Lies H.; Ibrahim, Jennifer; Jacob, Claire M.; Kant, Sarina G.; Kim, Chong Ae; Kirk, Edwin P.; Knoers, Nine V. A. M.; Lacombe, Didier; Lee, Chung; Lo, Ivan F. M.; Lucas, Luiza S.; Mari, Francesca; Mericq, Veronica; Moilanen, Jukka S.; Moller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T.; Pope, Kate; Price, Susan; Renieri, Alessandra; Sa, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L.; Simon, Marleen E. H.; Slavotinek, Anne; Temple, I. Karen; van der Burgt, Ineke; de Vries, Bert B. A.; Weisfeld-Adams, James D.; Whiteford, Margo L.; Wierczorek, Dagmar; Wit, Jan M.; Yee, Connie Fung On; Beaulieu, Chandree L.; White, Sue M.; Bulman, Dennis E.; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M. Share Save
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects Runtuwene, Vincent; van Eekelen, Mark; Overvoorde, John; Rehmann, Holger; Yntema, Helger G.; Nillesen, Willy M.; van Haeringen, Arie; van der Burgt, Ineke; Burgering, Boudewijn; den Hertog, Jeroen Share Save
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation Jongmans, Marjolijn C. J.; van der Burgt, Ineke; Hoogerbrugge, Peter M.; Noordam, Kees; Yntema, Helger G.; Nillesen, Willy M.; Kuiper, Roland P.; Ligtenberg, Marjolijn J. L.; van Kessel, Ad Geurts; van Krieken, J. Han J. M.; Kiemeney, Lambertus A. L. M.; Hoogerbrugge, Nicoline Share Save
Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway Kleefstra, Tjitske; Wortmann, Saskia B.; Rodenburg, Richard J. T.; Bongers, Ernie M. H. F.; Hadzsiev, Kinga; Noordam, Cees; van den Heuvel, Lambert P.; Nillesen, Willy M.; Hollody, Katalin; Gillessen-Kaesbach, Gabrielle; Lammens, Martin; Smeitink, Jan A. M.; van der Burgt, Ineke; Morava, Eva Share Save
Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype Martinelli, Simone; De Luca, Alessandro; Stellacci, Emilia; Rossi, Cesare; Checquolo, Saula; Lepri, Francesca; Caputo, Viviana; Silvano, Marianna; Buscherini, Francesco; Consoli, Federica; Ferrara, Grazia; Digilio, Maria C.; Cavaliere, Maria L.; van Hagen, Johanna M.; Zampino, Giuseppe; van der Burgt, Ineke; Ferrero, Giovanni B.; Mazzanti, Laura; Screpanti, Isabella; Yntema, Helger G.; Nillesen, Willy M.; Savarirayan, Ravi; Zenker, Martin; Dallapiccola, Bruno; Gelb, Bruce D.; Tartaglia, Marco Share Save
Noonan Syndrome, the SOS1 Gene and Embryonal Rhabdomyosarcoma Jongmans, Marjolijn C. J.; Hoogerbrugge, Peter M.; Hilkens, Linda; Flucke, Uta; van der Burgt, Ineke; Noordam, Kees; Ruiterkamp-Versteeg, Martina; Yntema, Helger G.; Nillesen, Willy M.; Ligtenberg, Marjolijn J. L.; van Kessel, Ad Geurts; Kuiper, Roland P.; Hoogerbrugge, Nicoline Share Save
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