Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.

Angela Clara-Hwang Stefani Stefani Tracy Lau Marcello Scala Busra Aynekin Pia Bernardo Francesca Madia Sophia Bakhtadze Rauan Kaiyrzhanov Reza Maroofian Federico Zara Varunvenkat M Srinivasan Vykuntaraju K Gowda Ulviyya Guliyeva Alexandra Montavont Anne-Lise Poulat Ayten Güleç Colette Berger Dorothee M Ville Julitta de Bellescize Sara Cabet Antje Wonneberger Alexander Schulz Agustín Rodriguez-Palmero Nicolas Chatron Gaëtan Lesca Huseyin Per Himanshu Goel Janis Brown Tanja Frey Katharina Steindl Anita Rauch Mariasavina Severino Henry Houlden Paola Nicolaides Pasquale Striano Stephanie Efthymiou

Published in: Neurology. Genetics (2024)

Our study broadens the geographic scope of CHD2-related phenotypes, providing valuable insights into the prevalence and clinical characteristics of this genetic disorder in previously underrepresented populations.

Keyphrases

risk factors
genome wide
gene expression
single cell
copy number