Litcius/Paper detail

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy

Muhammad A. Usmani, Zubair M. Ahmed, Pamela Magini, Victor Murcia Pienkowski, Kristen Rasmussen, Rebecca Hernan, Faiza Rasheed, Mureed Hussain, Mohsin Shahzad, Brendan C. Lanpher, Zhiyv Niu, Foong‐Yen Lim, Tommaso Pippucci, Rafał Płoski, Verena Kraus, Karolina Matuszewska, Flavia Palombo, Jessica Kianmahd, Julián A. Martínez-Agosto, Hane Lee, Emma Colao, M. Mahdi Motazacker, Karlla W. Brigatti, Erik G. Puffenberger, Saima Riazuddin, Claudia Gonzaga‐Jauregui, Wendy K. Chung, Matias Wagner, Matthew Schultz, Marco Seri, Anneke J.A. Kievit, Nicola Perrotti, Jolien S. Klein Wassink‐Ruiter, Hans van Bokhoven, Sheikh Riazuddin, Saima Riazuddin

2021The American Journal of Human Genetics28 citationsDOIOpen Access PDF

Topics & Concepts

Intellectual disabilityEpilepsyNeurodevelopmental disorderAlleleDevelopmental disorderMedicinePsychologyGeneticsNeurosciencePsychiatryBiologyAutismGeneGenetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchGenomics and Rare Diseases