The Clinical and Molecular Spectrum of the KDM6B-related Neurodevelopmental Disorder
Dmitrijs Rots,Taryn E. Jakub,Crystal Keung,Vissers E. L. M. Lisenka,Siddharth Banka,Rolph Pfundt,Bert B. A. de Vries,Richard H. van Jaarsveld,Saskia M. J. Hopman,Ellen van Binsbergen,Irene Valenzuela,Maja Hempel,Tatjana Bierhals,Fanny Kortuem,Francois Lecoquierre,Alice Goldenberg,Jens Michael Hertz,Charlotte Brasch Andersen,Maria Kibaek,Eloise J. Prijoles,Roger E. Stevenson,David B. Everman,Wesley G. Patterson,Linyan Meng,Charul Gijavanekar,Karl De Dios,Shenela Lakhani,Tess Levy,Matias Wagner,Dagmar Wieczorek,Paul J. Benke,Maria Soledad Lopez Garcia,Renee Perrier,Sergio B. Sousa,Pedro M. Almeida,Maria Jose Simoes,Bertrand Isidor,Wallid Deb,Andrew A. Schmanski,Omar Abdul-Rahman,Christophe Philippe,Ange-Line Bruel,Laurence Faivre,Antonio Vitobello,Christel Thauvin,Jeroen J. Smits,Livia Garavelli,Stefano G. Caraffi,Francesca Peluso,Laura Davis-Keppen, Dylan Platt,Erin Royer,Lisette Leeuwen,Margje Sinnema,Alexander P. A. Stegmann,Constance T. R. M. Stumpel,George E. Tiller,Danielle G. M. Bosch, Stephanus T. Potgieter,Shelagh Joss,Miranda Splitt,Simon Holden,Matina Prapa,Nicola Foulds,Sofia Douzgou,Kaija Puura,Regina Waltes,Andreas G. Chiocchetti,Christine M. Freitag,F. Kyle Satterstrom,Silvia De Rubeis,Joseph Buxbaum,Bruce D. Gelb,Aleksic Branko,Itaru Kushima,Jennifer Howe,Stephen W. Scherer,Alessia Arado,Chiara Baldo,Olivier Patat,Demeer Benedicte,Diego Lopergolo,Filippo M. Santorelli,Tobias B. Haack,Andreas Dufke,Miriam Bertrand,Ruth J. Falb,Angelika Riess,Peter Krieg,Stephanie Spranger,Maria Francesca Bedeschi,Maria Iascone,Sarah Josephi-Taylor,Tony Roscioli,Michael F. Buckley,Jan Liebelt,Aditi I. Dagli,Emmelien Aten,Anna C. E. Hurst, Alesha Hicks,Mohnish Suri,Ermal Aliu,Sunil Naik,Richard Sidlow,Juliette Coursimault,Gael Nicolas,Hanna Kuepper,Florence Petit, Veyan Ibrahim,Deniz Top,Francesca Di Cara,Raymond J. Louie,Elliot Stolerman,Han G. Brunner,Lisenka E. L. M. Vissers,Jamie M. Kramer,Tjitske Kleefstra
The American Journal of Human Genetics（2023）
引用 2|浏览64
关键词
neurodevelopmental disorders,COMPASS,Mendelian disorders,missense variants,de novo variants,Drosophila,KDM6B
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