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Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations Jeanne, Mederic; Ronce, Nathalie; Remize, Solene; Arpin, Stephanie; Baujat, Genevieve; Breton, Sylvain; Petit, Florence; Vanlerberghe, Clemence; Coeslier-Dieux, Anne; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Khau Van Kien, Philippe; Van-Gils, Julien; Quelin, Chloe; Pasquier, Laurent; Odent, Sylvie; Demurger, Florence; Laffargue, Fanny; Francannet, Christine; Martin-Coignard, Dominique; Afenjar, Alexandra; Whalen, Sandra; Verloes, Alain; Capri, Yline; Delahaye, Andree; Plaisancie, Julie; Labrune, Philippe; Destree, Anne; Maystadt, Isabelle; Ciorna Monferrato, Viorca; Isidor, Bertrand; Vincent, Marie; Jean Marcais, Nolwen; Nambot, Sophie; Schaefer, Elise; El Chehadeh, Salima; Lespinasse, James; Collignon, Patrick; Busa, Tiffany; Philip, Nicole; Willems, Marjolaine; Planes, Marc; Vanakker, Olivier M.; Lambert, Laetitia; Leheup, Bruno; Mathieu-Dramard, Michele; Morin, Gilles; Dieterich, Klaus; Ginglinger, Emmanuelle; Bayat, Allan; Balasubramanian, Meena; Dauriat, Benjamin; Haye, Damien; Amiel, Jeanne; Rio, Marlene; Cormier-Daire, Valerie; Toutain, Annick Share Save
Prescribing sustainability: should UN sustainable development goals be part of the medical, pharmacy, and biomedical education? Wieers, Gregoire; Absil, Simon; Maystadt, Isabelle; Nicaise, Charles; Modrie, Pauline; Sibille, Francois-Xavier; Melly, Ludovic; Dogne, Jean-Michel Share Save
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske Share Save
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
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711 Wang, Jiyong; Foroutan, Aidin; Richardson, Ellen; Skinner, Steven A.; Reilly, Jack; Kerkhof, Jennifer; Curry, Cynthia J.; Tarpey, Patrick S.; Robertson, Stephen P.; Maystadt, Isabelle; Keren, Boris; Dixon, Joanne W.; Skinner, Cindy; Stapleton, Rachel; Ruaud, Lyse; Gumus, Evren; Lakeman, Phillis; Alders, Marielle; Tedder, Matthew L.; Schwartz, Charles E.; Friez, Michael J.; Sadikovic, Bekim; Stevenson, Roger E. Share Save
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals Bosch, Elisabeth; Popp, Bernt; Guese, Esther; Skinner, Cindy; van der Sluijs, Pleuntje J.; Maystadt, Isabelle; Pinto, Anna Maria; Renieri, Alessandra; Bruno, Lucia Pia; Granata, Stefania; Marcelis, Carlo; Baysal, Oezlem; Hartwich, Dewi; Holthoefer, Laura; Isidor, Bertrand; Cogne, Benjamin; Wieczorek, Dagmar; Capra, Valeria; Scala, Marcello; De Marco, Patrizia; Ognibene, Marzia; Abou Jamra, Rami; Platzer, Konrad; Carter, Lauren B.; Kuismin, Outi; van Haeringen, Arie; Maroofian, Reza; Valenzuela, Irene; Cusco, Ivon; Martinez-Agosto, Julian A.; Rabani, Ahna M.; Mefford, Heather C.; Pereira, Elaine M.; Close, Charlotte; Anyane-Yeboa, Kwame; Wagner, Mallory; Hannibal, Mark C.; Zacher, Pia; Thiffault, Isabelle; Beunders, Gea; Umair, Muhammad; Bhola, Priya T.; Mcginnis, Erin; Millichap, John; van de Kamp, Jiddeke M.; Prijoles, Eloise J.; Dobson, Amy; Shillington, Amelle; Graham, Brett H.; Garcia, Evan-Jacob; Galindo, Maureen Kelly; Ropers, Fabienne G.; Nibbeling, Esther A. R.; Hubbard, Gail; Karimov, Catherine; Goj, Guido; Bend, Renee; Rath, Julie; Morrow, Michelle M.; Millan, Francisca; Salpietro, Vincenzo; Torella, Annalaura; Nigro, Vincenzo; Kurki, Mitja; Stevenson, Roger E.; Santen, Gijs W. E.; Zweier, Markus; Campeau, Philippe M.; Severino, Mariasavina; Reis, Andre; Accogli, Andrea; Vasileiou, Georgia Share Save
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology (vol 3, 100102, 2022) Sobering, Andrew K.; Bryant, Laura M.; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M., Jr.; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjaersgaard; Adler, Elodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J.; Earl, Dawn; Tsai, Anne Chun-Hui; Yearwood, Katherine R.; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J. Share Save
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P.; Bjornsson, Hans T.; Harris, Jacqueline; Dyment, David A.; Graham, Gail E.; Nezarati, Marjan M.; Aul, Ritu B.; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernandez-Jaen, Alberto; Alvarez, Sara; Garcia-Prieto, Irene Diez; Alkuraya, Fowzan S.; Alsaif, Hessa S.; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C.; Shashi, Vandana; Sanchez-Lara, Pedro A.; Graham, John M., Jr.; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D.; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A.; Rodriguez, Nicolas; Sanchez-Martinez, Rosario; Tenorio-Castano, Jair; Nevado, Julian; Lapunzina, Pablo; Tirado, Pilar; Rodrigues, Maria-Teresa Carminho Amaro; Quteineh, Lina; Innes, A. Micheil; Kline, Antonie D.; Au, P. Y. Billie; Weksberg, Rosanna Share Save
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder Ziegler, Alban; Steindl, Katharina; Hanner, Ashleigh S.; Kar, Rajesh Kumar; Prouteau, Clement; Boland, Anne; Deleuze, Jean Francois; Coubes, Christine; Bezieau, Stephane; Kury, Sebastien; Maystadt, Isabelle; Le Mao, Morgane; Lenaers, Guy; Navet, Benjamin; Faivre, Laurence; Mau-Them, Frederic Tran; Zanoni, Paolo; Chung, Wendy K.; Rauch, Anita; Bonneau, Dominique; Park, Myung Hee Share Save
Natural history of KBG syndrome in a large European cohort Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A.; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukas; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-Gonzalez, Anna Maria; Trujillano, Laura; Valenzuela, Irene; Tizzano, Eduardo F.; Spinelli, Alessandro Mauro; Bruno, Irene; Curro, Aurora; Stanzial, Franco; Benedicenti, Francesco; Lopergolo, Diego; Santorelli, Filippo Maria; Aristidou, Constantia; Tanteles, George A.; Maystadt, Isabelle; Tkemaladze, Tinatin; Reimand, Tiia; Lokke, Helen; Ounap, Katrin; Haanpaa, Maria K.; Holubova, Andrea; Zoubkova, Veronika; Schwarz, Martin; Zordania, Riina; Muru, Kai; Roht, Laura; Tihverainen, Annika; Teek, Rita; Thomson, Ulvi; Isis, Atallah; Superti-Furga, Andrea; Buoni, Sabrina; Canitano, Roberto; Scandurra, Valeria; Rossetti, Annalisa; Grosso, Salvatore; Battini, Roberta; Baldassarri, Margherita; Mencarelli, Maria Antonietta; Lo Rizzo, Caterina; Bruttini, Mirella; Mari, Francesca; Ariani, Francesca; Renieri, Alessandra; Maria, Anna Share Save
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology Sobering, Andrew K.; Bryant, Laura M.; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M., Jr.; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjaersgaard; Adler, Elodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J.; Earl, Dawn; Tsai, Anne Chun-Hui; Yearwood, Katherine R.; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J. Share Save
Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance Demaret, Tanguy; Wintjens, Rene; Sana, Gwenaelle; Docquir, Joachim; Bertin, Frederic; Ide, Christophe; Monestier, Olivier; Karadurmus, Deniz; Benoit, Valerie; Maystadt, Isabelle Share Save
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Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype Zanoni, Paolo; Steindl, Katharina; Sengupta, Deepanwita; Joset, Pascal; Bahr, Angela; Sticht, Heinrich; Lang-Muritano, Mariarosaria; van Ravenswaaij-Arts, Conny M. A.; Shinawi, Marwan; Andrews, Marisa; Attie-Bitach, Tania; Maystadt, Isabelle; Belnap, Newell; Benoit, Valerie; Delplancq, Geoffroy; de Vries, Bert B. A.; Grotto, Sarah; Lacombe, Didier; Larson, Austin; Mourmans, Jeroen; Ounap, Katrin; Petrilli, Giulia; Pfundt, Rolph; Ramsey, Keri; Blok, Lot Snijders; Tsatsaris, Vassilis; Vitobello, Antonio; Faivre, Laurence; Wheeler, Patricia G.; Wevers, Marijke R.; Wojcik, Monica; Zweier, Markus; Gozani, Or; Rauch, Anita Share Save
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8 Van Gucht, Ilse; Meester, Josephina A. N.; Bento, Jotte Rodrigues; Bastiaansen, Maaike; Bastianen, Jarl; Luyckx, Ilse; Van den Heuvel, Lotte; Neutel, Cedric H. G.; Guns, Pieter-Jan; Vermont, Mandy; Fransen, Erik; Perik, Melanie H. A. M.; Velchev, Joe Davis; Alaerts, Maaike; Schepers, Dorien; Peeters, Silke; Pintelon, Isabel; Almesned, Abdulrahman; Ferla, Matteo P.; Taylor, Jenny C.; Dallosso, Anthony R.; Williams, Maggie; Evans, Julie; Rosenfeld, Jill A.; Sluysmans, Thierry; Rodrigues, Desiderio; Chikermane, Ashish; Bharmappanavara, Gangadhara; Vijayakumar, Kayal; Shahri, Hassan Mottaghi Moghaddam; Hashemi, Narges; Torbati, Paria Najarzadeh; Toosi, Mehran B.; Al-Hassnan, Zuhair N.; Vogt, Julie; Revencu, Nicole; Maystadt, Isabelle; Miller, Erin M.; Weaver, K. Nicole; Begtrup, Amber; Houlden, Henry; Murphy, David; Maroofian, Reza; Pagnamenta, Alistair T.; Van Laer, Lut; Loeys, Bart L.; Verstraeten, Aline Share Save
Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants Moortgat, Stephanie; Manfroid, Isabelle; Pendeville, Helene; Freeman, Stephen; Bourdouxhe, Jordane; Benoit, Valerie; Merhi, Ahmad; Philippe, Christophe; Faivre, Laurence; Maystadt, Isabelle Share Save
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frederic; Toutain, Annick; Bonnet-Brilhault, Frederique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna K.; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju G.; Chung, Wendy K.; Devriendt, Koenraad; Holder, Susan E.; Jewett, Tamison; Baldwin, Lauren M.; Wilson, William G.; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah F.; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sebastien; Sullivan, Jennifer A.; Shashi, Vandana; Koudijs, Suzanne M.; Heijligers, Malou; Kivuva, Emma; McTague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie L.; Houge, Gunnar; Janssens, Veerle Share Save
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