Whole genome sequencing facilitates intragenic variant interpretation following modifier screening in C. elegans

por Jean, Francesca, Stasiuk, Susan, Maroilley, Tatiana, Diao, Catherine, Galbraith, Andrew, Tarailo-Graovac, Maja
Publicado 2021

A novel FAME1 repeat configuration in a European family identified using a combined genomics approach

por Maroilley, Tatiana, Tsai, Meng‐Han, Mascarenhas, Rumika, Diao, Catherine, Khanbabaei, Maryam, Kaya, Sabine, Depienne, Christel, Tarailo‐Graovac, Maja, Klein, Karl Martin
Publicado 2023

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Tela...

por Maroilley, Tatiana, Wright, Nicola A. M., Diao, Catherine, MacLaren, Linda, Pfeffer, Gerald, Sarna, Justyna R., Billie Au, Ping Yee, Tarailo-Graovac, Maja
Publicado 2022

Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling

por Brodehl, Andreas, Belke, Darrell D., Garnett, Lauren, Martens, Kristina, Abdelfatah, Nelly, Rodriguez, Marcela, Diao, Catherine, Chen, Yong-Xiang, Gordon, Paul M. K., Nygren, Anders, Gerull, Brenda
Publicado 2017