Fabíola Paoli Monteiro

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski et al. · The American Journal of Human Genetics · 2019 · 105 citations · Full text

Functional Genomics, Medicine, Genetics +6

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Down Syndrome, Deletion Syndrome, Developmental Biology +11

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing

Rodrigo Santa Cruz Guindalini, Danilo Vilela Viana, João Paulo Kitajima et al. · Scientific Reports · 2022 · 72 citations · Full text

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature

Fabíola Paoli Monteiro, Társis Paiva Vieira, Ilária Cristina Sgardioli et al. · European Journal of Pediatrics · 2013 · 67 citations

Clinical Population, New Guidelines, Clinical Epidemiology +7

Early role for a Na ⁺ ,K ⁺ -ATPase ( <i>ATP1A3</i> ) in brain development

Richard S. Smith, Marta Florio, Shyam K. Akula et al. · Proceedings of the National Academy of Sciences · 2021 · 55 citations · Full text