Litcius/Paper detail

Rare and de novo coding variants in chromodomain genes in Chiari I malformation

Brooke Sadler, Jackson Wilborn, Lilian Antunes, Timothy Kuensting, Andrew T. Hale, Stephen R. Gannon, Kevin McCall, Carlos Cruchaga, Matthew Harms, Norine Voisin, Alexandre Reymond, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Marco Tartaglia, Marcello Niceta, Chiara Leoni, Giuseppe Zampino, Allison E. Ashley‐Koch, Aintzane Urbizu, Melanie E. Garrett, Karen Soldano, Alfons Macaya, Donald F. Conrad, Jennifer M. Strahle, Matthew B. Dobbs, Tychele N. Turner, Chevis N. Shannon, Douglas L. Brockmeyer, David D. Limbrick, Christina A. Gurnett, Gabe Haller

2020The American Journal of Human Genetics35 citationsDOIOpen Access PDF

Topics & Concepts

ChromodomainGeneChiari I malformationChiari malformationGeneticsBiologyComputational biologySyringomyeliaMedicineNeuroscienceHelicaseSpinal cordRNASpinal Dysraphism and MalformationsTuberous Sclerosis Complex ResearchFetal and Pediatric Neurological Disorders