Litcius/Paper detail

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

Dara Tolchin, J. Paige Yeager, Priya Prasad, Naghmeh Dorrani, Alvaro Serrano Russi, Julián A. Martínez-Agosto, Abdul Haseeb, Marco Angelozzi, Gijs W.E. Santen, Claudia Ruivenkamp, Saadet Mercimek‐Andrews, Christel Depienne, Alma Kuechler, Barbara Mikat, Hermann‐Josef Lüdecke, Frédéric Bilan, Gwenaël Le Guyader, Brigitte Gilbert‐Dussardier, Boris Keren, Solveig Heide, Damien Haye, Hilde Van Esch, Liesbeth Keldermans, Damara Ortiz, Emily Lancaster, Ian D. Krantz, Bryan L. Krock, Kieran B. Pechter, Alexandre Arkader, Līvija Medne, Elizabeth T. DeChene, Eduardo Calpena, Giada Melistaccio, Andrew O.M. Wilkie, Mohnish Suri, Nicola Foulds, John C. Ambrose, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Mark J. Caulfield, G. C. Chan, C.E.H. Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, J.M. Hackett, Dina Halai, John E. Holman, Tim Hubbard, Dalia Kasperavičiūtė, Melis Kayikci, L. Lahnstein, Keith A. Lawson, S. E. A. Leigh, Ivone Leong, Fabrice Lopez, F. Maleady-Crowe, James Mason, Ellen M. McDonagh, Loukas Moutsianas, M. Mueller, Anna C. Need, Christopher A. Odhams, C. Patch, D. Perez-Gil, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Tim Rogers, Mina Ryten, K. Savage, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Kirstin Smith, Alona Sosinsky, Will Spooner, Hallam Stevens, Alexander Stuckey, Ellen Thomas, Sam Thompson, C. Tregidgo, Arianna Tucci, Elizabeth J. Walsh, Scott Watters, M. J. Welland, Eric O. Williams, Kate Witkowska, Shalandra Wood, Magdalena Zarowiecki, Amber Begtrup, Lindsay B. Henderson

2020The American Journal of Human Genetics35 citationsDOIOpen Access PDF

Topics & Concepts

HaploinsufficiencyGeneticsBiologyTestis determining factorMissense mutationCraniosynostosisNonsenseAllelePhenotypeAutismNeurodevelopmental disorderGenePsychologyY chromosomeDevelopmental psychologyinterferon and immune responsesGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesRNA Research and Splicing