Cíntia Barros Santos-Rebouças

Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements

Guy Froyen, Stefanie Belet, Francisco Martı́nez et al. · The American Journal of Human Genetics · 2012 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A novel nonsense mutation in KDM5C/JARID1C gene causing intellectual disability, short stature and speech delay

Cíntia Barros Santos-Rebouças, Natalia Fintelman‐Rodrigues, Lars Riff Jensen et al. · Neuroscience Letters · 2011 · 55 citations

Life Sciences, Genetics, Molecular Genetics +17

Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

Cíntia Barros Santos-Rebouças, Raquel Boy, Evelyn Quintanilha Vianna et al. · Frontiers in Genetics · 2020 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing

Evelyn Quintanilha Vianna, Rafael Mina Piergiorge, Andressa Pereira Gonçalves et al. · Molecular Neurobiology · 2020 · 43 citations

Life Sciences, Genetics, Molecular Genetics +14

A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations

Cíntia Barros Santos-Rebouças, Stefanie Belet, Luciana Guedes de Almeida et al. · European Journal of Human Genetics · 2013 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17