Litcius/Paper detail

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

Ange‐Line Bruel, Antonio Vitobello, Isabelle Thiffault, Linda Manwaring, Marcia Willing, Pankaj B. Agrawal, Allan Bayat, Thomas M. Kitzler, Catherine A. Brownstein, Casie A. Genetti, Joseph Gonzalez–Heydrich, Parul Jayakar, Jacob Zyskind, Zehua Zhu, Clemence Vachet, Gena Wilson, Brianna Pruniski, Anne-Marie Goyette, Yannis Duffourd, Christel Thauvin‐Robinet, Christophe Philippe, Laurence Faivre

2021European Journal of Human Genetics15 citationsDOIOpen Access PDF

Topics & Concepts

Intellectual disabilityAutismAutism spectrum disorderMissense mutationExome sequencingEpilepsyNeurodevelopmental disorderGeneticsExomeCopy-number variationPhenotypeBiologyGeneMedicinePsychiatryGenomeAutism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases