Litcius/Paper detail

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

Susan M. Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, E. Christopher Partridge, Fatima Abidi, Ashlyn G. Anderson, Muhammad Ansar, Stylianos E. Antonarakis, Azadeh Azadi, Ruxandra Bachmann‐Gagescu, Andrea Bartuli, Caroline Bénech, Jennifer L. Berkowitz, Michael J. Betti, Alfredo Brusco, Ashley Cannon, Giulia Caron, Yanmin Chen, Meagan E. Cochran, Tanner Coleman, Molly M. Crenshaw, Laurence Cuisset, Cynthia J. Curry, Hossein Darvish, Serwet Demirdas, Maria Descartes, Jessica Douglas, David A. Dyment, Houda Zghal Elloumi, Giuseppe Ermondi, Marie Faoucher, Emily Farrow, Stephanie A. Felker, Heather Fisher, Anna Hurst, Pascal Joset, Melissa Kelly, Stanislav Kmoch, Benjamin R. Leadem, Michael J. Lyons, Marina Macchiaiolo, Martin Magner, Giorgia Mandrile, Francesca Mattioli, Megan McEown, Sarah K. Meadows, Līvija Medne, Naomi Meeks, Sarah Montgomery, Melanie P. Napier, Marvin R. Natowicz, Kimberly M. Newberry, Marcello Niceta, Lenka Nosková, C. Nowak, Amanda G. Noyes, Matthew Osmond, Eloise J. Prijoles, Jada Pugh, Verdiana Pullano, Chloé Quēlin, Simin Rahimi-Aliabadi, Anita Rauch, Sylvia Redon, Alexandre Reymond, Caitlin Schwager, Elizabeth A. Sellars, Angela E. Scheuerle, Elena Shukarova-Angelovska, Cara Skraban, Elliot Stolerman, Bonnie Sullivan, Marco Tartaglia, Isabelle Thiffault, Kévin Uguen, Luis A. Umaña, Yolande van Bever, Saskia N. van der Crabben, Marjon A. van Slegtenhorst, Quinten Waisfisz, Camerun Washington, Lance H. Rodan, R Myers, Gregory M. Cooper

2022The American Journal of Human Genetics19 citationsDOIOpen Access PDF

Topics & Concepts

BiologyGeneticsPhenotypeCopy-number variationGeneMissense mutationGenomeGenetics and Neurodevelopmental DisordersGenomics and Chromatin DynamicsGenomics and Rare Diseases
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype | Litcius