Juan Francisco Quesada Espinosa

Prioritization of exome variants through an automatic system using HPO terms

Diego Tuñón Le Poultel, José Miguel Lezana Rosales, Juan Francisco Quesada Espinosa, 2021, Revista de Medicina de Laboratorio.

Expanding the clinical and genetic spectrum of SQSTM1-related disorders in family with personality disorder and frontotemporal dementia

Juan Francisco Quesada Espinosa, D. Pérez-Martínez, S. Llamas-Velasco, 2021, Amyotrophic lateral sclerosis & frontotemporal degeneration.

First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection

Juan Francisco Quesada Espinosa, M. Moreno-García, A. Méndez-Guerrero, 2020, American journal of medical genetics. Part A.