Maria Rigau

2024

• Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

  Nature Communications

  I. Núñez-Carpintero, M. Rigau, M. Bosio, E. O'Connor, S. Spendiff, Y. Azuma, A. Topf, R. Thompson, T. Chamova, I. Tournev, V. Guergueltcheva, S. Laurie, S. Beltran, S. Capella-Gutierrez, D. Cirillo, H. Lochmüller, and A. Valencia

2019

• Intronic CNVs and gene expression variation in human populations

  PLOS Genetics

  M. Rigau, D. Juan, A. Valencia, and D. Rico

2018

• Loose ends: almost one in five human genes still have unresolved coding status

  Nucleic Acids Research

  F. Abascal, D. Juan, I. Jungreis, L. Martinez, M. Rigau, J. Manuel Rodriguez, J. Vázquez, and M. L. Tress