Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

Autor: Sabeh, Pascale ^{1, 44}, Dumas, Samantha A. ^{2, 44}, Maios, Claudia ³, Daghar, Hiba ³, Korzeniowski, Marek ², Rousseau, Justine ¹, Lines, Matthew ⁴, Guerin, Andrea ⁵, Millichap, John J. ⁶, Landsverk, Megan ⁷, Grebe, Theresa ⁸, Lindstrom, Kristin ⁹, Strober, Jonathan ¹⁰, Ait Mouhoub, Tarik ¹¹, Zweier, Christiane ¹², Steinraths, Michelle ¹³, Hebebrand, Moritz ¹⁴, Callewaert, Bert ¹⁵, Abou Jamra, Rami ¹⁶, Kautza-Lucht, Monika ¹⁷, Wegler, Meret ¹⁶, Kruszka, Paul ¹⁸, Kumps, Candy ¹⁵, Banne, Ehud ¹⁹, Waberski, Marta Biderman ²⁰, Dieux, Anne ²¹, Raible, Sarah ²², Krantz, Ian ²², Medne, Livija ²³, Pechter, Kieran ²³, Villard, Laurent ^{24, 41}, Guerrini, Renzo ^{25, 41}, Bianchini, Claudia ^{25, 41}, Barba, Carmen ^{25, 41}, Mei, Davide ²⁵, Blanc, Xavier ²⁶, Kallay, Christine ²⁷, Ranza, Emmanuelle ²⁶, Yang, Xiao-Ru ²⁸, O'Heir, Emily ²⁹, Donald, Kirsten A. ³⁰, Murugasen, Serini ³⁰, Bruwer, Zandre ³⁰, Calikoglu, Muge ³¹, Mathews, Jennifer M. ³¹, Lesieur-Sebellin, Marion ³², Baujat, Geneviève ³¹, Derive, Nicolas ³³, Pierson, Tyler Mark ^{42, 43}, Murrell, Jill R. ³⁴, Shillington, Amelle ³⁵, Ormieres, Clothilde ³², Rondeau, Sophie ³², Reis, André ¹⁴, Fernandez-Jaen, Alberto ³⁶, Au, Ping Yee Billie ²⁸, Sweetser, David A. ³⁷, Briere, Lauren C. ³⁷, Couque, Nathalie ³⁸, Perrin, Laurence ³⁸, Schymick, Jennifer ³⁹, Gueguen, Paul ³³, Lefebvre, Mathilde ⁴⁰, Van Andel, Michael ³⁹, Juusola, Jane ¹⁸, Antonarakis, Stylianos E. ²⁶, Parker, J. Alex ^{3, 45}, Burnett, Barrington G. ^{2, 45, ∗}, Campeau, Philippe M. ^{1, 45, ∗∗}

Publikováno v: In The American Journal of Human Genetics 2 January 2025 112(1):75-86